Pediatrics

The MC clinical manifestation of Meningococcal infection is:

Asymptomatic carriage of the organism in the Nasopharynx

Evan's syndrome

Autoimmune Hemolytic Anemia Thrombocytopenia # Early Sign of: SLE, Autoimmune Lymphoproliferative Syndrome or CVID

Angiomyolipomas

The MC Benign solid tumors of the Kidney * Component of Tuberous Sclerosis Complex

coagulase Negative staph

The MC Nosocomial Infection in neonatal ICU

Infantile Hemangioma

The MC benign tumors of infancy, occur in approximately 5-10% of term infants

Staphylococcus epidermidis

The MC cause of Nosocomial Bacteremia, usually in association with Central Vascular Catheters

Myotonic dystrophy

The MC form of muscular dystrophy that begins in adulthood. Characterized by progressive muscle wasting and weakness. Patients have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use.

Wardenburg Syndrome

The MC of several syndromes that characterized by BOTH Deafness and Pigments # Autosomal dominant # white forelock # heterochromia irides # U/L or B/L congenital deafness # lateral displacement of inner canthi

Minimal change disease diagnosis:

The Urinalysis reveals: - 3+ or 4+ proteinuria - microscopic hematuria [20% of cases]. - spot urine protein:creatinine ratio should be > 2.0. - serum creatinine usually normal - serum albumin level is < 2.5 g/dL - serum cholesterol and triglyceride levels are elevated. - serum complement levels are normal. - renal biopsy is not routinely performed if the patient fits the standard clinical picture of MCNS.

Drug-Induced Thrombocytopenia

mnemonic: "TPV-CSV" TMP/SMX Phenytoin Valproic Acid Carbamazepine Sulfonamides Vancomycin # Tx: Direct Thrombin Inhibitors: Argatroban or Danaparoid and Removal of All Sources of Heparin, including line flushes.

signs of hypovolemic shock:

orthostatic hypotension dry mucous membranes dry axillae poor skin turgor decreased urine output. #pulses may be normal, decreased, or absent depending on disease severity

diminished pulses in all extremities:

pericardial tamponade left ventricular outflow obstruction cardiomyopathy.

signs of distributive shock

peripheral vasodilation and increased but inadequate cardiac output

Granulosa cell tumors

rare functional neoplasm, which can manifest as gonadotropin-independent premature puberty ***Peutz-Jeghers syndrome, CAH, familial gonadotropin-independent puberty, and granulosa cell tumors are NOT associated with cafe-au-lait macules or hyperthyroidism !!!

Poor maternal DM glucose control:

risk for infant to asymmetrical septal hypertrophy > aortic outflow obstruction

Functional constipation

similar to Hirschsprung Disease BUT: # onset of constipation : after 2yr of age # abdominal distention is NOT common # rectum filled with stool # anorectal manometry >>Relaxation of internal anal sphincter # rectal biopsy is NORMAL # Tx: Education, Relief of Impaction and Softening of the Stool [polyethylene, lactulose, or mineral oil]

Edward syndrome [trisomy 18]

small gestational age , micrognathia , low ears , cardiac defect, small palpebral fissure , microcephaly , clef-lip/palate , rocket bottom feet

Treponema pallidum

syphilis, painless ulcer

Strep pneumonia

the MOST frequent cause of bacteremia , bacterial pneumonia, otitis media, bacterial meningitis in children # segmental infiltrate , high fever , localized crackles

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Congenital heart defects [CHD]

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Dilated cardiomyopathy (DCM)

Meconium plugs

# Associated with small left colon syndrome in infants of diabetic mothers, CF (40%), Hirschsprung disease (40%), maternal opiate use, magnesium sulfate therapy for preeclampsia, and tocolysis. # Up to 30% of Pt's can have spontaneous resolution. # Initial Tx: glycerin suppository or rectal irrigation with isotonic saline. * In up to 95% of Pt's>> Gastrografin enema will be both diagnostic and therapeutic

Oligohydramnios

# Associated with: Congenital Anomalies, IUGR, Severe Renal, Bladder or Urethral Anomalies, PROM and Drugs # Can Cause: Fetal Compression Abnormalities: Fetal Distress/Stillbirth from Umbilical Cord Compression, Clubfoot, Spadelike Hands and Flattened Nasal bridge # Most Serious Complication: Pulmonary Hypoplasia

Thiazide Toxicity:

"Hyper - GLUC" Hyper- Glycemia Hyper- Lipidemia Hyper- Uricemia Hyper- Calcemia also: Hypo - Natremia Hypo - Magnesemia Hypo - Kalemia Metabolic Alkalosis Sulfa allergy

Drug-induced Thyroiditis

"LIITA" mnemonic Lithium Interferon-α Interleukin-2 Tyrosine Kinase Inhibitors [TKI] Amiodarone

Wiskott-Aldrich syndrome

"MR-TEXT" mnemonic M- low IgM R- Recurrent Infection [ otitis media, pneumonia, meningitis, and sepsis] T- Thrombocytopenia [ ↑bleeding circumscission OR bloody diarrhea, draining ears] E- Eczema [ atopic dermatitis] X- X-linked recessive T- T&B cells # The MC type of Malignancy: Lymphoma and Leukemia #Tx: Nutrition and IVIG HSCT [Hematopoietic stem-cell transplantation] -[TOC] Bone marrow or cord blood transplantation

Hemophilia A and B [ factors VIII and IX Deficiency]

# # Untreated> Temponade # 30% male: bleed with circumcision # The Hallmark: Hemarthrosis-> Bleeding into the Joints [ earliest Ankle] # Warm, Tingling sensation in the joint as the 1st Sign of an early Joint Hemorrhage # Lab: prolonged PTT * PT, Platelet count, Bleeding time and Thrombin Time: Normal! # Tx of Hemophilia A: Desmopressin # Tx of Hemophilia B: Emicizumab [humanized monoclonal antibody] *** Lifelong Prophylaxis

hypospadias

# 10% of male with hypospadias have an undescended testis! #inguinal hernia also common # present with disorder of sex development like: mixed gonadal dysgenesis, partial androgen insensitivity, true hermaphroditism, and congenital adrenal hyperplasia in female >>>>karyotype should be obtained in Pt's with midpenile or proximal hypospadias and cryptorchidism.

Food Protein-Induced Allergic Proctocolitis (FPIAP)

# 1st few mon of life: Blood-streaked Stools in healthy infants * 60% Occur among Breastfed infants [ rest: Cow's Milk or Soy Protein-based Formula]

Food Protein-induced Enteropathy (FPE)

# 1st few mon of life: Diarrhea, Steatorrhea, Poor Weight Gain, Vomiting [65%], FTT, Abdominal Distention, Early Satiety and Malabsorption. *Anemia, Edema and Hypoproteinemia # Cow's milk Sensitivity is The MC cause of FPE in young Infants # Celiac Disease: The Most Severe form of FPE [Malabsorption, Chronic Diarrhea, Steatorrhea, Abdominal Distention, Flatulence and Weight Loss or FTT]

Food Protein-Induced Enterocolitis Syndrome (FPIES)

# 1st few mon of life: Irritability, Intermittent Vomiting, and Protracted Diarrhea> Dehydration * Vomiting occurs 1-4 hr after feeding * Continued exposure may result: Abdominal Distention, Bloody Diarrhea, Anemia and FTT * Sxs are Most Provoked by Cow's Milk or Soy Protein-based Formulas Hypotension occurs in approximately 15% of patients after allergen ingestion and may initially be thought to be caused by sepsis. FPIES usually resolves by age 3-5 yr.

Transfusion Related Acute Lung Injury (TRALI)

# Complication of transfusion # Dx: confirmed by chest x-ray findings # The risk of TRALI may be reduced by Avoiding Transfusion of plasma or platelets from Female Donors, who were possibly alloimmunized to leukocyte antigens during pregnancy, or by selecting donors (e.g., males) who are likely to be Negative for Human Leukocyte Antigen (HLA) antibodies [Donor Anti-lukocytes antibodies] # Within 6hr

pyloric stenosis [pylorospasm]

# 1st sxs: Nonbilious Vomiting - after feeding [usually after 3wk of life] ~ age 3-8wk of life # the MC sign: Hyperbilirubinemia [Unconjugated] # Dx: palpate the mass [olive shaped] Hypokalemic, Hypochloremic & M.Alkalosis [vomiting] # U/S to confirm diagnosis , criteria: 1) pyloric thickness 3-4 mm 2) overall pyloric length 15-19 mm 3) pyloric diameter of 10-14 mm # Contrast studies: 1) elongated pyloric channel (string sign) 2) bulge of the pyloric muscle into the antrum (shoulder sign) 3) parallel streaks of barium seen in the narrowed channel ("double tract sign") # Tx: pyloromyotomy

Chlamydia trachomatis - Trachoma

# 2 types: lymphogranuloma venereum (LGV) and trachoma [oculogenital disease] #In developed countries>> the MOST prevalent STD, causing urethritis in men, cervicitis and salpingitis in women, and conjunctivitis and pneumonia in infants. # Trachoma: MOST important preventable cause of Blindness in the world. begins as a follicular conjunctivitis #Dx: clinically. confirmed by culture OR staining test [NO serology!!!] #Tx: single-dose Azithromycin[20mg/kg] ***Oral Doxycycline is effective but is Contraindicated in children younger than 8 yr of age.

Type 1 Diabetes Mellitus Etiology:

# 25-50% of T1DM present as Adults!!! # 85% of cases DO NOT have family member!!! # Up to: 40% of Congenital Rubella[virus] # HLA DR3/4-DQ2/8 # Thyroid Autoimmunity # Celiac Disease # DKA at presentation [25% of cases]

Ewing Sarcoma

# 2nd MC Bone Tumor [ After Osteosarcoma] # Small, Round, Blue cell tumors # sxs [Similar to Osteosarcoma]: Pain, Swelling, Limitation of Motion and Tenderness BUT also: Systemic sxs: Fever and Weight Loss and ↑Inflammatory markers # Dx: CT or MRI: Onion-Skinning # Tx: 1) Chemotherapy [ to Shrink]: Vincristine, Doxorubicin, Cyclophosphamide, Etoposide and ifosfamide 2) Radiation 3) Surgery # Pelvic tumor- Worst Prognosis

Membranoproliferative Glomerulonephritis (MPGN)

# 2nd Type [More common]: HBV, HCV syphilis, subacute bacterial endocarditis, and infected shunts, especially AV shunts (shunt nephritis) # 2nd decade of life. F=M # Nephrotic Syndrome, Acute Nephritic Syndrome (Hematuria, HTN and Renal Dysfunction), or persistent Asxs Microscopic Hematuria and Proteinuria. *Serum C3 complement levels are Low in the Majority # Prednisone

Actinomycosis

# 3 major forms: 1)cervicofacial- painless lumpy jaw 2)abdominal and pelvic- Hx of GI surgery, diverticulitis, or appendicitis. 3)pulmonary # Tx: 1) Antibiotics: IV penicillin G!!! other: tetracycline, clindamycin and carbapenems 2) surgical excision for sinus tract and abscesses #prognosis: Removal of chronically infected tonsils and treatment of periodontitis or caries may eliminate sources of possible reinfection.

Tetralogy of Fallot (TOF)

# 4 Components: 1) Obstruction to Right Ventricular Outflow (Pulmonary Stenosis) 2) VSD 3) Override Aorta 4) Right Ventricular Hypertrophy # Mild RV Outflow Obstruction: Cyanosis is NOT present at birth! # Severe RV Outflow Obstruction: Neonatal Cyanosis is noted Immediately! # Unrepaired Older Children: Dyspnea on exertion>> Squatting Relief of dyspnea # Paroxysmal Hypercyanotic Attacks (Hypoxic, "blue," or "tet" spells): During the 1st yr of life: Hyperpneic and Restless, Cyanosis Increases, Gasping Respirations ensue> Syncope. * Spells occur in the Morning or after Crying * ↓Intensity of systolic murmur during the spell # IV Phenylephrine [can improve RV outflow, ↓R>L shunt and improve sxs. IV Propranolol] # Delayed Growth and Development If: Severe and Untreated and SaO2<70% # Substernal RV Impulse # Systolic Thrill>Left Sternal Border [3rd parasternal] # Systolic Murmur: Loud and Harsh [left sternal border] # S2 is Single or Pulmonic component is Soft # Boot-shape Heart # ECG: Right Axis Deviation [RVH] * Dominant R wave: right precordial chest leads V1+2 or an RSR′. In some cases the Only Sign of RVH: Positive T wave in leads V3R and V1. The P wave: Tall and Peaked [ suggesting Right Atrial Enlargement] # Echo for Diagnosis # Complications: Cerebral thromboses Brain abscess Bacterial endocarditis # Tx: Depends on the Severity of the RVOT Obstruction * IV Prostaglandin E1 * If pulmonary valve is stenotic: Valvotomy * If pulmonary valve annulus is small or thickened: Valvectomy # Many Pt's have: Premature Ventricular Beats after repair of TOF

Congenital Diaphragmatic Hernia (CDH)

# 4 Types: Hiatal Hernia Para-esophageal Hernia Morgagni Hernia Bochdalek Hernia # Congenital Diaphragmatic Hernia (CDH): Bochdalek Hernia [90% of cases] and 90% on the Left side! # >50% of cases Dx Prenatal U/S>> 16 and 24 wk of Gestation. * US findings: Polyhydramnios, Chest Mass, Mediastinal Shift, Gastric Bubble or a liver in the thoracic cavity, and Fetal Hydrops # Respiratory Distress is The Cardinal Sign>> may occur Immediately after birth or may be a "Honeymoon" period up to 48 hr [stable]. # Early respiratory distress within 6 hr after birth> Poor Prognostic Sign. # Respiratory distress: Tachypnea, Grunting, Accessory Muscles, and Cyanosis. Also: Scaphoid Abdomen and ↑↑Chest Wall Diameter, Bowel sounds in the chest, ↓↓Breath Sounds Bilaterally, Point of maximal Cardiac Impulse Displaced. # CXR and Passage of a NGT: Confirm the Diagnosis # AVOID Prolonged Mask Ventilation!!! # Tx: mnemonic "CDH-E" Conventional Mechanical Ventilation Decompression NGT High-Frequency Oscillatory Ventilation (HFOV) ECMO # Complications: GERD [>50% of cases] Intestinal Obstruction [20% of cases]

Transposition of the Great Arteries [TGA]

# 5% of all CHD # 50% of Pt's have also VSD # More Common in Infants of Diabetic Mother # male:female - 3:1 # Cyanosis and Tachypnea in 1st hr of life # S2 heart sound is Single and Loud [can Split] Murmur Absent or soft Systolic Ejection murmur ~midleft sternal border. #Dx: Echo is Diagnostic and Confirms TGA!!! **CXR -mild Cardiomegaly, narrow Mediastinum (the classic "egg-shaped heart") and normal to increased Pulmonary blood flow. **Arterial Po2 is low and doesNOT rise after Pt's breathes 100% oxygen (Hyperoxia Test) **ECG: Right Ventricular Prominence and Right Axis Deviation #Tx: Immediately Prostaglandin E1!!! if still severely Hypoxic and Acidotic >> Rashkind balloon atrial septostomy !! The arterial switch (Jatene) procedure is the surgical treatment of choice for neonates with d-TGA and an intact ventricular septum and is usually performed within the 1st 2 wk of life.

Turner Syndrome

# 50% of cases have 45XO # 50% of cases have mosaicism of X and Y # sxs: Small size for gestational age, Webbing neck, Protruding ears, and Lymphedema of the hands and feet, newborns are phenotypically normal. *Older children and adults: Short Stature and exhibit variable Dysmorphic features. *Congenital Heart Defects (40%) *Structural Renal Anomalies (60%) *The MC Heart Defects: bicuspid aortic valves, coarctation of the aorta, Aortic Stenosis and MVP # Lymphedema: Hands or Lower Extremities can sometimes be The Only Indication # Thyroid Autoantibodies [40%] # Dx: Karyotype #Gonads are streaks of fibrous tissue (gonadal dysgenesis). #Primary Amenorrhea and lack of secondary sex characteristics. #Normal intelligence # Tx: Growth Hormone and Oxandrolone

Non-Hodgkin Lymphoma (NHL)

# 60% of Lymphomas in Children # The 2nd MC malignancy between ages 15- 35 yr # >70% Advanced Disease [ High grade] * Age 0-14yr: Lymphoblastic Lymphoma * Age 15-19yr: Diffuse Large B-cell Lymphoma # sxs: Painless, Rapid LN Enlargement, Cough or Dyspnea, Superior Mediastinal Syndrome, Ascites, ↑Abdominal Girth or Intestinal Obstruction with Abdominal Mass, Nasal Congestion, Earache, Hearing loss or Tonsil Enlargement and Localized Bone Pain # Tumor lysis syndrome (TLS) [Common in Burkitt]: Hyperuricemia, Hyperphosphatemia, Hyperkalemia, Hypocalcemia and Renal Insufficiency/Failure [ Tx: Hydration, Allopurinol or Rasburicase] # Superior Mediastinal Syndrome: Due to Large Mediastinal Mass causing Obstruction Blood Flow or Respiratory Airways # Spinal Cord Tumors: Cord Compression and Acute Paraplegias requiring Emergent Radiation Therapy # Surgery for: Diagnosis # Radiation for: CNS [Lymphoblastic Lymphoma] or Acute Superior Mediastinal Syndrome or Paraplegias # Prognosis is Excellent

Bronchopulmonary Dysplasia (BPD) [a.k.a. Chronic Lung Disease of Prematurity]

# 60% of infants born at ≤28 wk gestation # 100% of infants born 22-24 wk gestation # Occur in: Infant on prolonged Oxygen like: Mechanical Ventilation to Tx respiratory distress syndrome (RDS) # Excessive Pulmonary Interstitial Fluid that Compromises Lung Function and ↑work of Breathing # sxs: Tachypnea and Retractions, Hypercapnia, Hypoxia, and Oxygen Dependence. # CXR: RDS to Hyperinflation and Fine, Diffuse Interstitial Opacities. [if severe: airway obstruction] # Wandering Atelectasis is Common. # Diagnosed when a preterm infant requires supplemental oxygen for the 1st 28 postnatal days, and it is further classified at 36 wk PMA according to the degree of O2 supplementation # Tx: Furosemide, Corticosteroids, Bronchodilators # Complication: Pulmonary HTN

Acute Lymphoblastic Leukemia (ALL)

# 77% of cases of Childhood Leukemia # ↑Risk with Exposure to Radiation # Initial sxs (No-specific): Anorexia, Fatigue, Malaise, Irritability Intermittent low-grade Fever and Bone or Joint Pain [legs, can wake Pt's at night] # later sxs: (Bone Marrow Failure): Pallor, Fatigue, Exercise Intolerance, Bruising, Oral mucosal Bleeding or Epistaxis and Fever * Lymphadenopathy, HSM[30-40%], Testicular Enlargement # Dx: Anemia and Thrombocytopenia * Bone Marrow: >25% Lymphoblasts * If Lymphoblasts and CSF Leukocyte is Elevated: Overt CNS or Meningeal Leukemia -> Poorer Stage * If the Diagnosis of Leukemia was previously established from Bone Marrow-> LP staging with Intrathecal Chemotherapy * Clue for ALL: ↑LDH # HIGH RISK: <1 yr OR >10 yr and Initial Leukocyte >50k # Risk-directed Therapy: Imatinib

Developmental Dysplasia of the Hip [DDH]

# 80% female # In Neonate: NO sxs! # Barlow and Ortolani tests: POSITIVE! * These tests are NOT reliable after 3rd mon of life! # After 3rd mon of life the most reliable tests: * Limitation of Abduction is the Most reliable Sign * Galeazzi sign- look for knee asymmetry [in flexion] * Asymmetry of Gluteal skin creases * Klisic test- Horizontal line instead of half vertical * Trendelenburg sign * Abductor Lurch- when child walks # Limp, Waddling gait, or Leg-Length Discrepancy # Lordosis: common [inward curve of the spine] # Dx: 0-4wks of life: Physical examination <6mon of life: U/S [α angle is >60 is Normal] >6mon of life: Radiography [x-ray] * Acetabular index: newborn < 40c - Normal by 4mon of life <30c -Normal * Center-edge angle: for older children 6-13yr- angle >19c -Normal >14 yr -angle >25c -Normal # Tx: <6mon of life: Pavlik Harness [ASAP] 6mon-2yr of age: Closed Reductions [general anesthesia]. if failed: Open Reduction >2yr of age: Open Reduction with spica cast for 6-12 wk # Complications: The Most Important: Avascular Necrosis of the femoral epiphysis

Candida albicans

# 85% of valvulovaginitis # pruritus and burning , milky-white discharge # no odor

Hematuria

# >5 RBCs/high power field (HPF) # Heme-positive urine without RBCs: Hemoglobin or Myoglobin. 1) Hemoglobinuria without Hematuria: Hemolysis 2) Myoglobinuria without Hematuria: Rhabdomyolysis # Hx of recent URTI or GI infection: Postinfectious Glomerulonephritis, HUS or HSP nephritis # Rash and joint sxs: HSP or SLE nephritis #UTI: Frequency, Dysuria, and Unexplained Fever #Nephrolithiasis: Renal colic #Flank Mass can suggest: Hydronephrosis, Renal Cystic diseases, Renal Vein Thrombosis, or Tumor. #Hematuria with Headache, Mental Status changes, Visual changes (diplopia), Epistaxis, or Heart Failure suggests: Severe HTN # Pt's with hematuria and Hx of trauma require immediate evaluation # Child abuse must always be suspected in the child presenting with unexplained Perineal Bruising and Hematuria! # Abdominal Masses caused by: Bladder distention in Posterior Urethral Valves Hydronephrosis in ureteropelvic junction obstruction Polycystic kidney disease [PCKD] Wilms tumor # Hematuria with Neurologic or Cutaneous sxs: Tuberous Sclerosis Von Hippel Lindau Syndrome Zellweger (cerebrohepatorenal) Syndrome # The MC cause of Gross Hematuria is UTI. # Recurrent episodes of Gross Hematuria: IgA nephropathy Alport syndrome Thin glomerular basement membrane disease. # Asxs Pt's with isolated Microscopic Hematuria should NOT undergo extensive diagnostic evaluation, because such hematuria is often Transient and Benign # Urine Culture followed by a Spot Urine for Hypercalciuria with a calcium:creatinine ratio in Culture-Negative Pt's # Referral to a Pediatric Nephrologist should be considered for Pt's with Persistent Asymptomatic Hematuria> 1 yr !!!

Chlamydia trachomatis Conjunctivitis and Pneumonia in Newborns

# >60% of Neonatal Conjunctivitis # 50% of infants with Chlamydial Conjunctivitis also have Nasopharyngeal Infection. # persistent Cough, Tachypnea and Absence of Fever. # Auscultation reveals Rales # The absence of fever &wheezing helps to distinguish C. trachomatis pneumonia from RSV pneumonia!!! #Lab: peripheral eosinophilia (>400 cells/μL). #CXR: hyperinflation accompanied by minimal interstitial or alveolar infiltrates. #Dx: culture and direct fluorescent antibody #Tx: Erythromycin (14 days) and Azithromycin(3 days). #An association between Tx with oral Erythromycin and infantile pyloric stenosis has been reported in infants younger than 6 wk of age who were given the drug for prophylaxis after nursery exposure to pertussis.

Asthma [ spirometry]

# AIRFLOW LIMITATION: - LOW FEV1 - FEV1/FVC <0.8[80%] # BRONCHODILATOR RESPONSE TO B-AGONIST: - improvement in FEV1>12% , >200ml # EXCERSIZE CHALLENGE - worsening in FEV1>15% - daily peak flow OR FEV1 monitoring: day-day or am:pm ,>20%

Phrenic nerve injury

# C3-C5 nerves with diaphragmatic paralysis must be considered when cyanosis and irregular and labored respirations develop. # Unilateral, associated with ipsilateral upper brachial palsy. # Breath sounds are diminished on the affected side. # thrust of the diaphragm is absent on the affected side #Dx: U/S or fluoroscopy: elevation of the diaphragm on the paralyzed side and seesaw movements of the 2 sides of the diaphragm during respiration. # Tx: non-specific # Pulmonary infections are a serious complication.

Idiopathic Nephrotic Syndrome

# Accounts for 90% of Nephrotic syndrome in kids. # Includes 5 Types: MCNS [90%<6yr], FSGS, MPGN, MN and Mesangial Proliferation. # Male, 2-6yr old. # sxs: peri-orbital edema, ascites, pleural effusions, genital edema, anorexia, irritability, abdominal pain and diarrhea # Minimal Change Disease: Absence HTN and Gross Hematuria [these sxs are Nephritic syndrome] # Dx: Urinalysis with the 1st Morning Urine, Protein:Creatinine ratio and Serum Electrolytes, BUN, Creatinine, Albumin and Cholesterol levels * Children>10yr: complement C3 level, ANA and double-stranded DNA, HIV, HBV, HCV and Kidney Biopsy [ for age>12yr who are less likely to have MCNS] # Urinalysis: 3+ or 4+ Proteinuria and Microscopic Hematuria [20% of kids] # Spot Urine Protein:Creatinine ratio should be > 2.0 # Serum Creatinine is usually Normal # Serum Albumin is < 2.5 g/dL and Serum Cholesterol and Triglyceride are Elevated # Serum Complement: Normal # Renal Biopsy is NOT routinely performed if the Pt's fits the standard clinical picture of MCNS. * Renal Biopsy For: Gross Hematuria, HTN, Renal Insufficiency, Hypocomplementemia or age<1yr or>12 yr # TB must rule out before Corticosteroids [by PPD] # Tx: Prednisone or Prednisolone 60mg [90% respond] * Alternative: Calcineurin inhibitors (Cyclosporine or Tacrolimus)- initial Tx for steroid-resistant nephrotic syndrome. Cyclophosphamide

Poststreptococcal Glomerulonephritis (PSGN)

# Acute Nephritic Syndrome 1-2wks after Strep Pharyngitis # Age 5-12yr # From Asxs Microscopic Hematuria with normal renal function to Gross Hematuria with Acute Renal Failure #Edema, HTN, and Oliguria # Sudden Gross Hematuria, Edema, HTN and Renal Dysfunction. * One of the MC glomerular causes of gross hematuria in children # Dx: Urinalysis: RBC, RBC casts, Proteinuria and PMN Leukocytes. mild Normochromic Anemia * ↓↓Serum CH50 * ↓↓Serum C3 level [>90% of cases] * Normal C4 level # Confirmation Dx: need evidence of prior Strep Inx: Throat Culture, Antistreptolysin O[ASO], Antideoxyribonuclease B level [anti-DNase-B] * MRI: Posterior Reversible Encephalopathy Syndrome #Renal biopsy Indications: 1) Acute Renal Failure 2) Nephrotic syndrome 3) Absence of evidence of Streptococcal Infection or Normal complement levels 4) If Hematuria, Proteinuria, Renal Function and low C3 level persist more than 2 mon after onset. # Tx: Penicillin- 10days ↓↓HTN - Sodium and Fluid restriction, Diuretics, CCB, ACEi and Vasodilators # Complications: *HTN -60% of cases *HTN Encephalopathy[10% of cases] -blurred vision, severe headaches, altered mental status or new seizures.

Toxic shock syndrome (TSS):

# Acute Severe illness: fever, hypotension, erythematous rash with subsequent desquamation on the hands and feet, and multisystem involvement, including vomiting, diarrhea, myalgias, nonfocal neurologic abnormalities, conjunctival hyperemia, and strawberry tongue. # DD: Kawasaki disease # Tx: Clindamycine + Nafcillin/Oxacillin/Cefazolin

Hemolytic Uremic Syndrome (HUS)

# Acute kidney failure, Thrombocytopenia and Microangiopathic Hemolytic Anemia [schistocyte] # The MC form of thrombotic microangiopathy (TMA) # E.coli- O154H7 [MC-90% of cases] # HUS MC in pre-school &school children # Onset: few days after onset of gastroenteritis #sxs: Fever, Vomiting, Diarrhea and Abdominal Pain # anemia: mild at presentation > later> progress # platelets: 20,000-100,000 # PT&PTT: Normal # Leukocytosis # NEGATIVE coombs test: except in pneumococci- induce HUS+ coombs test # Urinanalysis: microscopic Hematuria and low-grade Proteinuria #↑ BUN and ↑ Creatinine #↑ LDH and ↑ Reticulocytes #↓ Haptoglobin # Plasma Infusion or Plasmapheresis-> for HUS with Severe CNS sxs # Eculizumab for Atypical HUS # Severe acute kidney injury requiring Dialysis [50% of Shigella-HUS cases] # Seizures and Encephalopathy the MC CNS sxs[<20%]

Alkaptonuria

# Adulthood: Arthritis and Ochronosis[dark spots on the sclera or ear cartilage] # Children: Blackening of the urine on standing # Radiologic findings are typical of Osteoarthritis # High incidence of heart disease (mitral and aortic valvulitis, calcification of heart valves and MI ) # Dx: massive excretion of homogentisic acid on urine organic acid testing. # Tyrosine levels are normal # Tx: Nitisinone

Von Hippel-Lindau Disease

# Affect: cerebellum, spinal cord, retina, kidney, pancreas, and epididymis # Autosomal Dominant, Mutation in VHL * 80% have family history and 20% De-Novo # Cerebellar Hemangioblastomas and Retinal Angiomas (a.k.a Retinal Capillary Hemangioblastomas)- sxs: ↑ICP 25% of cerebellar hemangioblastomas have retinal angioma> retinal detachment and visual loss #Brain CT or MRI: Cystic Cerebellar lesion with a Vascular Mural Nodule. # Total surgical removal of the tumor is Curative # Retinal angiomas are treated with Photocoagulation and Cryocoagulation. # Renal carcinoma is The MC cause of Death! # Screening: 1)>1yr: yearly neurologic, vision, hearing and BP 2)>5yr: yearly screening for Pheochromocytoma. Hearing evaluation every 2-3 yr, and contrast-enhanced MRI of the ear 3)>16yr: yearly Abdominal U/S and MRI of the abdomen

Billiary Atresia

# All Pt's with suspected biliary atresia should undergo Exploratory Laparotomy and Direct Cholangiography to determine the presence and site of obstruction. # Dx: Abdominal U/S -Triangular Cord Sign # Hepato-porto-enterostomy (Kasai) procedure [success >90% if done <8wk of age]

Polyhydramnios

# Amniotic Fluid Index (AFI) > 24cm # Associated with: Preterm Labor, Abruptio Placentae, Maternal Diabetes [25%], Multiple Congenital Anomalies[33%] , Aneuploidy, Congenital Nephrotic Syndrome, Hydrops Fetalis [edema] and Fetal Neuromuscular Dysfunction or Obstruction of GI Tract [interferes with reabsorption of the amniotic fluid that is normally swallowed ] # Idiopathic: The MC cause [40% of cases]

Autoimmune Hypoparathyroidism

# Associated with Addison disease and Chronic Mucocutaneous Candidiasis # Autoimmune Polyglandular Disease Type I [a.k.a Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy (APECED] -Autosomal Recessive Candidiasis (1st) [70% of <5yr of age cases] Hypoparathyroidism (2nd) [90% of>3yr of age cases] Addison Disease (3rd) [90% of>6yr of age cases] T1DM [18% of cases] # Other sxs: Alopecia Areata or Totalis, Malabsorption disorder, Pernicious Anemia, Gonadal Failure, Chronic active Hepatitis, Vitiligo, and Insulin-dependent Diabetes

Ascending cholangitis

# Associated with cholestatic disorders ,biliary tract obstruction caused by gallstones or sclerosing cholangitis or after a Kasai procedure. # MC pathogens: E.coli, Klebsiella, Pseudomonas, and Enterococcus. # In case of recurrent cholangitis >>Liver transplantation is the definitive treatment, especially when medical therapy is not effective. * Enterococcus Late onset infection (≥7 days of age) is associated with risk factors such as extreme prematurity, presence of an intravascular catheter, necrotizing enterocolitis, or it follows an intraabdominal surgical procedure [ ex: Kasai procedure].

Tuberous Sclerosis [TSC]

# Autosomal Dominant # Mutation in TSC [65% of cases] # The Hallmark: involvement of the CNS # 2 Majors OR 1 Major+ 2Minors 1) Major: Cortical dysplasias (tubers and cerebral migration lines) Subependymal nodules Subependymal giant cell astrocytoma [SEGA 5-10%] Facial Angiofibromas (≥3) [ age 4-6yr] Ungual fibromas (≥2) Hypomelanotic macules (≥3 mm diameter)>90% Shagreen patch [lumbosacral] Multiple retinal nodular hamartomas Cardiac Rhabdomyoma [50%] Renal Angiomyolipoma [80% of cases >10yr of age] Pulmonary lymphangioleiomyomatosis 2) Minor: Dental enamel pits (>3) Intraoral fibromas (≥2) Retinal achromic patch Confetti skin lesions Nonrenal hamartomas Multiple renal cysts # The MC neurologic manifestations of TSC consist of Epilepsy, Cognitive Impairment, and Autism. *TSC may present with Seizures [Infantile Spasm]-MC #Embolization followed by corticosteroids to alleviate postembolization syndrome is first-line therapy for angiomyolipoma presenting with acute hemorrhage # Asxs with angiomyolipomas>3cm: mTOR inhibitor: Everolimus. # For lymphangioleiomyomatosis: give Rapamycin # Dx: Brain MRI confirms in most cases # Screening: 1) Brain MRI every 1-3 yr 2) Renal Ultrasound, CT or MRI every 1-3 yr 3) Echo every 1-3 yr in Pt's with Cardiac Rhabdomyomas 4) ECG every 3-5 yr 5) High-resolution chest CT every 5-10 yr in females older than 18 yr 6) Dental examination twice a year 7) Skin examinations once a year 8) Ophthalmic examination once a year in Pt's with vision concerns or retinal lesions (sooner if they are receiving treatment with vigabatrin) 9) Neurodevelopmental testing at 1st grade 10) Screening for TAND at each clinic visit [Tuberous Sclerosis-Associated Neuropsychiatric Disorders] ------------------------------------------------------------ USMLE Step2 CK: # Dermatologic: 1) Hypopigmented macules (ash-leaf spots) 2) Angiofibromas of the malar region 3) Shagreen patches # Neurologic: 1) CNS lesions (eg, hamartoma) 2) Epilepsy 3) Intellectual disability 4) Autism and behavioral disorders (eg, hyperactivity) 5) Cardiovascular: Rhabdomyomas 6) Renal: Angiomyolipomas epilepsy, developmental delay, subependymal nodules, and hypopigmented macules Seizures (eg, infantile spasms, tonic-clonic) are the most common presenting feature of TS

Idiopathic Hypercalciuria

# Autosomal Dominant # recurrent gross hematuria, persistent microscopic hematuria, dysuria, crystalluria, or abdominal pain with or without kidney stone formation # Hypercalciuria: conditions resulting in Hypercalcemia: Hyper-Parathyroidism, vitamin D Intoxication, Immobilization and Sarcoidosis # Hypercalciuria: Cushing syndrome, Corticosteroid Tx, Tubular Dysfunction secondary to Fanconi syndrome as occurs with Wilson Disease, William syndrome, Distal RTA or Bartter syndrome # Dx: 24-hr Urinary Calcium Excretion > 4 mg/kg! *Screening: random Urine specimen by measuring the Calcium and Creatinine *Spot Urine Calcium:Creatinine ratio> 0.2 [older child] Normal ratios may be as high as 0.8 in infants < 7 mon of age # Tx: Oral thiazide *If still with sxs Hematuria and Dysuria -> Hydrochlorothiazide [titrated upward until the 24-hr urinary calcium excretion is < 4 mg/kg and clinical manifestations resolve. After 1 yr ->discontinued] *if Hypokalemia [due to S/E of Hydrochlorothiazide]->Potassium citrate [ also good for: low urinary citrate excretion, a low urine pH, and symptomatic dysuria or crystalluria] *Sodium Restriction # Dietary Calcium Restriction is NOT recommended!!! # Untreated-> Nephrolithiasis [15% of cases]

Waardenburg Syndrome

# Autosomal Dominant! # sxs: White forelock Lateral displacement of inner canthi of the eyes Broad nasal bridge Heterochromia of irides Sensorineural deafness # 4 major types * type 1 (WS1, the MC form) >>mutation (>90%) or deletion of the PAX3 gene * type 4 (WS4) associated with Hirschsprung disease

Hereditary Spherocytosis (HS)

# Autosomal Dominant[75%] # No Family History [25%] # The Leading Cause of Coombs-Negative Hemolytic Anemia requiring Transfusion in the 1st months of life # 20% Mild- No sxs! # 70% Typical - Hemolytic Anemia with Reticulocytosis: Fatigue, Pallor and Intermittent Jaundice. * Splenomegaly Common after Infancy [almost all HS Pt's by young adulthood] # 5% Severe- Life-Threatening Anemia and are Transfusion Dependent # Bilirubin Gallstone and Splenomegaly # Susceptible To: Aplastic Crises: Parvovirus B19 Hypoplastic Crises Megaloblastic Crises: Folate Deficiency # Dx: * Hemolytic Anemia with Reticulocytosis and Indirect Hyperbilirubinemia * MCV: Normal or Low * Mean Corpuscular Hemoglobin Concentration (MCHC): Increased (>35 g/dL) ***MCHC >35.4 g/dL combined with RDW <14%: Screening Test for HS *** ↓Haptoglobin and ↑LDH ***Spherocytes [smaller in diameter, are hyperchromic] and Polychromatophilic Reticulocytes ***Osmotic Fragility Test [spherocytes in blood, NO specific & NO sensitive] Cryohemolysis Test Acidified Glycerol Lysis Test Osmotic Gradient Ektacytometry # DD: Hemolytic Disease of the Newborn # Tx: Splenectomy: Curative!!! [IN Pt's: hemolysis, anemia, hyperbilirubinemia and gallstones]

Schwachman-Diamond syndrome (SDS)

# Autosomal Recessive # Congenital Neutropenia # Ribosomopathy # sxs: Pancreatic Insufficiency [ steatorrhea Not always], Thrombocytopenia, Neutropenia, which may be cyclic, neutrophil chemotaxis defects, Metaphyseal Dysostosis, FTT and Short Stature!!! # Dental Abnormalities and Poor Oral Health. Many have Neurocognitive problems and Poor Social skills # Lab: U/S or CT scan can visualize Fatty Replacement of Pancreatic Tissue. Fat Malabsorption can be proven by Assay on a 72 hr Stool Collection. # Dx: Bone Marrow Dysfunction and Exocrine Pancreatic Insufficiency # Mutation in SBDS gene [chromosome 7] # DD: Pearson Syndrome, Fanconi Anemia # Tx: Daily subcutaneous G-CSF for profound neutropenia *Allogeneic HSCT *Fludarabine

Sandhoff Disease [GM2 Gangliosidoses]

# Autosomal Recessive # Deficiency of both β-hexosaminidases A and B # Similar to Tay-Sachs Disease # sxs: Hepatosplenomegaly, Cardiac involvement, and Mild Bony Abnormalities. # No Tx for Tay-Sachs disease or Sandhoff disease # Neurologic sxs and Cherry-Red Spot. # Dx: β-hexosaminidase in Peripheral Leukocytes. # The 2 disorders are Distinguished by: Enzymatic Assay # At-risk Pregnancies for both disorders can be Prenatally Dx by: Enzyme levels in fetal cells obtained by Amniocentesis or Chorionic Villus Sampling

Tay-Sachs Disease [GM2 Gangliosidoses]

# Autosomal Recessive # Deficiency of β-Hexosaminidase A # sxs: Loss of Motor Skills [Hypotonia], ↑↑Startle Reaction, Macular pallor and Retinal Cherry-Red Spots and Macrocephaly # Develop normally until 4-5 mon of age, when decreased eye contact and an exaggerated startle response to noise (Hyperacusis) are noted. # 2nd yr of life: Seizures Develop # Death occurring by Age 4-5 yr # No Tx for Tay-Sachs Disease or Sandhoff Disease

Elevation of sweat chloride

# CF: cystic fibrosis # Adrenal insufficiency # Ectodermal dysplasia # NDI: nephrogenic diabetes insipidus # Hypothyroidism # Malnutrition

Acute Meningococcal Septicaemia

# Can NOT be distinguished from other viral or bacterial infections early after onset of symptoms # Early sxs: Fever , Irritability , Lethargy , Refusal to Drink and Vomiting, Petechial Rash[80% of cases] # <10% of cases have mutation in LPXL1 gene-> milder infection # The MC Complication: Focal Skin Infarction> Affects the Lower limbs > need for skin graft # Deafness: The Most Frequent Neurologic sequela of Meningitis

mitral valve prolapse (MVP)

# Murmur: late apical systolic and may preceded by a click [BUT these signs may vary in the same Pt's and, at times, only the click is audible.] # In the standing or sitting position: the click occur earlier in systole AND the murmur may be more prominent in late systole

Wilson disease (Hepatolenticular Degeneration)

# Autosomal Recessive # Hallmark: Hepatic copper accumulation # AR ΔATP7B (copper-transporting ATP-ase) → copper overload → cirrhosis + movement disorder + hemolytic anemia + Kayser-Fleischer corneal rings # sxs: asxs Hepatomegaly (+/- Splenomegaly), Hepatitis, Hepatic Failure [+/- Hemolytic Anemia], Cirrhosis, Portal HTN, Ascites, Edema and Variceal Bleeding. *Other effects of hepatic dysfunction: Delayed Puberty, Amenorrhea, Coagulation defects # In children: Liver disease the MC sxs # In adults[>20yr]: Neurologic sxs the MC # Neurologic sxs: Tremor, Dysarthria, Rigid Dystonia, Parkinsonism, Choreiform movements, Lack of motor coordination, Deterioration in school performance or Behavioral changes # Psychiatric sxs: Depression, Personality changes, Anxiety, Obsessive-Compulsive Behavior, or Psychosis # Coombs-negative Hemolytic Anemia may be an Initial manifestation !!! - Dx: ↑LFTs/↓ceruloplasmin ↓total copper/↑free copper [ copper level in urine ] # Tx: * Dietary intake of copper restricted to <1 mg/day * D-penicillamine [Chelating agent] * Trientine * Zinc [ Presymptomatic Pt's] * Side effect of D-penicillamine: Goodpasture syndrome, SLE, and Polymyositis # First-degree relatives of Pt's with Wilson disease should be screened for Presymptomatic Disease. *This screening: serum ceruloplasmin level and 24-hr urinary copper excretion. [if abnormal>> Liver biopsy]

Galactosemia

# Autosomal Recessive # Uridyl Transferase Deficiency # Few days- weeks of Life: Jaundice, Hepatomegaly, Vomiting, Hypoglycemia, Seizures, Lethargy, Irritability, Feeding Difficulties, Poor weight gain or Failure to Regain Birthweight, and Aminoaciduria. #If Untreated: Cataracts, Vitreous hemorrhage, Hepatic Failure, Cirrhosis, Ascites, Splenomegaly, or Intellectual Disability # Pseudotumor Cerebri can occur>> Bulging Fontanel. # ↑↑↑Risk for E.Coli Neonatal Sepsis !!! # The onset of sepsis precedes Dx of Galactosemia # Dx: urine with non-glucose reducing substance * Reducing Substance in several Urine specimens collected while the Pt's is receiving Human milk, Cow's milk, or any other Formula containing Lactose [Detected by Clinitest] *Dx: Direct Enzyme Assay using Erythrocytes # Hypergonadotropic Hypogonadism [>80% of cases]-Infertile # Tx: Avoid Galactose Food # Most Pt's have: Speech Disorders SIGNS AND SYMPTOMS Cataracts (with oil-spot appearance), sepsis (E. coli) hepatosplenomegaly and mental retardation # Triad: 1)Liver failure (jaundice and coagulation disorder) 2)Renal tubular dysfunction (glucosuria, aminoaciduria, and acidosis) 3)Cataract. #Most females with Galactosemia suffer from Ovarian Failure: Amenorrhea, ↓Bone Density, Developmental Delay, and Learning Disabilities # Tx: Exclude galactose and lactose from diet (example: dairy and breast milk). **Soy-based formula.

Congenital Adrenal Hyperplasia (CAH)

# Autosomal Recessive # MC due to 21-hydroxylase deficiency # The MC Cause of Ambiguous Genitals [>90%]! # Presents at birth with Ambiguous Genitalia in Females # Boys with classic CAH may present in infancy with a Salt-Wasting Crisis BUT they do NOT have Ambiguous or Abnormal Genitalia # sxs: Vomiting, Diarrhea, Dehydration, Hyperkalemia, Hyponatremia, Metabolic Acidosis, Hypoglycemia, Shock, Ambiguous Genitalia or Clitoral Enlargement, HTN [some] # Diagnosis: Confirmed with ↑17-Hydroxyprogesterone level for Gestational Age # Tx: Hydrocortisone [Glucocorticoid Replacement] Fludrocortisone [Mineralocorticoid Replacement]

Spinal Muscular Atrophy (SMA) - Type 1 Werdnig-Hoffmann disease

# Autosomal Recessive - Mendelian Trait # 2nd MC prevalence autosomal recessive [1st is CF] # Hallmark: progressive denervation of muscle # Type 1: Werdnig-Hoffmann disease: - Before <6 mon of age with Severe Hypotonia - Frog-leg posture - Tongue fasciculations - Hyporeflexia / Areflexia - Sucking and swallowing [feeding] difficulties - Respiratory failure [intercostal but NO diaphragm] - Symmetric generalized muscle Weakness [ lower limb and proximal] - Paradoxical abdominal breathing pattern - Bell-shaped chest - Weak cough # Infants lie flaccid with little movement, Unable to overcome gravity, and Lack head control! # Preservation of Cognitive Functions # Lab: ↑CK, CXR: thin ribs # Dx: Gold Standard is SMN1 deletion/mutation *Absence of SMN1 exon 7 confirms the diagnosis !!!

Kostmann syndrome

# Autosomal recessive # Severe congenital neutropenia # Infantile malignant agranulocytosis

Maple Syrup Urine Disease (MSUD)

# Birth: appear healthy # 1st day of life: Poor Feeding and Vomiting # In few days: Lethargy and Coma # Signs: Hypertonicity and Muscular Rigidity with severe Opisthotonos. Periods of hypertonicity may alternate with bouts of flaccidity manifested as repetitive movements of the extremities ("boxing" and "bicycling"). # Cerebral Edema, Convulsions occur in most infants, and Hypoglycemia is Common. # Dx: Odor of maple syrup in Urine, Sweat, and Cerumen. * Confirmed by Amino Acid Analysis: ↑↑↑Leucine, ↑Isoleucine, ↑Valine, and ↑Alloisoleucine and ↓↓ level of Alanine # Tx: Hemodialysis is The Most Effective!!

Anomalous Origin of Left Coronary Artery from Pulmonary Artery [ALCAPA]

# Blood supply to the left ventricular is severely compromised >> Soon after birth >> Myocardial ischemia, infarction, and fibrosis. # Mitral insufficiency is COMMON complication! # Heart failure- cardiomegaly ( within few mon of life) >> Infantile angina sxs: discomfort, restlessness, irritability, sweating, dyspnea, and pallor. # Murmur: Holosystolic or Continuous [apex] # ECG: looks like Left MI: deep Q, inverted T, ST -elevation in Lead I and aVL and V4-6 # Confirm Dx: 2D echo doppler [other CT or MRI] **Cardiac catheterization is diagnostic # Tx: standard therapy for heart failure ** If Untreated>> Death within 1st 6mon of life

Pneumocystis jiroveci [PCP] Diagnosis

# Bronchoalveolar lavage[ BAL] # Tracheal aspirate # Trans-bronchial lung biopsy # Bronchial brushings # Percutaneous transthoracic needle aspiration # Open lung biopsy * Bilateral Diffuse Interstitial or Alveolar Ground Glass Infiltrates

Infant Botulism

# Bulbar Palsies: poor feeding, weak suck, feeble cry, drooling and obstructive apnea # The Classic Triad: 1) Acute onset of a Symmetric Flaccid Descending Paralysis with Clear Sensorium 2) NO fever 3) NO paresthesias # Rule out sepsis remains The MC admission of Diagnosis # EMG finding: Facilitation (potentiation) of the evoked muscle action potential at high-frequency (50 Hz) stimulation # BSAP (brief, small, abundant motor unit action potentials), is present Only in clinically Weak Muscles # Diagnosis is confirmed by isolating the toxin in stool and find classic Triad on EMG pattern: 1) ↓ amplitude in >2 muscles 2) tetanic facilitation : amplitutde is >10% of baseline 3) prolonged post-tetanic fasci>120sec and absence

Founder effect

# Mutation originating with a single individual # Specific change affecting a disease causing gene becomes relatively common in a population derived from a small number of founders. # Example : Tay-Sachs Disease!!!

Myesthenia Gravis

# Can be associated with hypothyroidism [Hashimoto] # EMG is more specifically diagnostic than a muscle biopsy[lymphorrhages]! >>decremental response is seen to repetitive nerve stimulation; the muscle potentials diminish rapidly in amplitude until the muscle becomes refractory to further stimulation. # Motor nerve conduction velocity remains normal. # Reversed after a cholinesterase inhibitor # Clinical Test: give short acting cholinesterase inhibitor: Edrophonium chloride [Tensilon test]. Ptosis and ophthalmoplegia improve within a few seconds, and fatigability of other muscles decreases.

Chlamydia pneumoniae

# CanNOT be differentiated from other pathogen like mycoplasma # sxs: fever, malaise, headache, cough, and pharyngitis. Severe pneumonia with pleural effusions and empyema # Infectious trigger for asthma # can cause pulmonary exacerbations in cystic fibrosis # acute chest syndrome in sickle cell anemia Pt's #Dx: rales and wheezing. **CXR: appears worse than the patient's clinical status **Culture from posterior nasopharynx **Serology: using microimmuno-fluorescence (MIF) or the complement fixation tests. #Tx: Macrolides, Tetracyclines and Quinolones

Kawasaki Disease involvement:

# Cardiac involvement is the most important manifestation of KD !!! # Myocarditis occurs in most patients with acute KD and manifests as tachycardia disproportionate to fever, along with diminished left ventricular systolic function. # Occasionally, patients with KD present in cardiogenic shock (KD shock syndrome) # CAA develop in up to 25% of untreated Pt's in the 2nd to 3rd wk of illness. [ 2D echo the most useful, perfomed at diagnosis and again after 2-3 wk of illness. If the results are normal>>repeat>>6-8 wk after onset of illness] #Giant coronary artery aneurysms (classic definition of >8 mm internal diameter) pose the greatest risk for rupture, thrombosis or stenosis, and MI.

Hypercalcemia

# Causes: Subcutaneous Fat Necrosis [after Traumatic Birth], Iatrogenic (excess Calcium or vitamin D), Maternal Hypoparathyroidism, Parathyroid Hyperplasia and Williams syndrome # sxs: Irritability, Vomiting, increased Tone, Poor Weight Gain and Constipation.

Tympanometry [a.k.a Acoustic Immittance Testing]

# Check the presence or absence of MEE # Provides information about TM compliance . #In simple terms, anything tending to stiffen the TM, such as TM scarring or middle-ear fluid, reduces the TM compliance, which is recorded as a flattening of the curve of the tympanogram. An ear filled with middle-ear fluid generally has a very noncompliant TM and therefore a flattened tympanogram tracing. # Tympanometry also may be used to help confirm, refine, or clarify questionable otoscopic findings . # Can NOT distinguish the effusion of OME from that of AOM.

CMV

# Clinical Findings: Prematurity (<37 wk), Jaundice (direct bilirubin >2 mg/dL), Petechiae[MC], Purpura, Hepatosplenomegaly, Microcephaly and IUGR # 90% of cases DO NOT have clinical sxs in newborn period # Lab Findings: Elevated ALT (>80 IU/mL) [70% of cases] Thrombocytopenia (<100,000 k/mm3 ) Direct Hyperbilirubinemia (>2 mg/dL) Head CT abnormalities # Dx: recovery of replicating virus and viral nucleic acids within the 1st 3 wk of life. virus culture combined with immunofluorescence and PCR # CMV is The MC viral pathogen Complicating Organ Transplantation # CMV is The MC Congenital Infection! # Hearing Loss is the MC long-term sequela of CMV!

Rapidly Progressive Glomerulonephritis [RPGN] (Crescentic)

# Clinical course of several forms of glomerulonephritis that have the unifying feature of a histopathologic finding of crescents # Most: Acute Nephritis (Hematuria, various degrees of renal dysfunction and HTN) and usually have concomitant Proteinuria often with Nephrotic syndrome # PRIMARY: Type I: Anti-glomerular basement membrane antibody disease, Goodpasture syndrome (with pulmonary disease) Type II: Immune complex mediated Type III: Pauci-immune (usually antineutrophil cytoplasmic antibody-positive) #SECONDARY: Membranoproliferative glomerulonephritis IgA Nephropathy Henoch-Schönlein purpura Postinfectious glomerulonephritis Systemic lupus erythematosus Polyarteritis nodosa, hypersensitivity angiitis

Membranous Nephropathy [MN]

# Common Nephrotic syndrome in adult BUT Rare in children. # The MC cause of 2nd MN: SLE(!) and Chronic HBV and Congenital Syphilis. # Can occur in any age BUT -> MC 2nd decade of life # Present at Nephrotic syndrome [2-6% of all nephrotic] # Most: Microscopic Hematuria and HTN[20-30%] # Dx: Renal Biopsy [nephrotic syndrome in a child > 10 yr or unexplained persistent hematuria with significant proteinuria] # Poor Prognostic Factors: Male High levels of Proteinuria Reduced Kidney Function Findings of Glomerulosclerosis and Tubular Damage # Tx: Immunosuppressive and Prednisone

Celiac Disease [CD]

# Common sxs: FTT, Chronic Diarrhea, Vomiting, Abdominal Distention, Muscle Wasting, Anorexia, and Irritability # one of MC sxs: Iron-deficiency Anemia, which is usually Unresponsive to Iron Tx and Osteoporosis # other sxs: Short Stature, Delayed Puberty, Arthritis and Arthralgia, Epilepsy with B/L Occipital Calcifications, Peripheral Neuropathies, Dental Enamel Hypoplasia and Aphthous Stomatitis. # Disease associated with CD: T1DM Autoimmune Thyroid disease Autoimmune Hepatitis Autoimmune Cholangitis Primary Biliary Cholangiti Addison Disease Sjögren Syndrome Rheumatoid Arthritis * Selective IgA Deficiency Down, Turner and Williams Syndromes # Dx: 1) for symptomatic Pt's: anti-TG2 IgA antibodies and total IgA [To exclude IgA deficiency] *If IgA anti-TG2 antibodies are Negative and serum Total IgA is Normal>> CD is Unlikely *If anti-TG2 antibody levels <10 times the upper limit of normal>>Upper Endoscopy with multiple Biopsies *If anti-TG2 antibody levels at or >10 times the upper limit of normal>> blood for HLA and EMA testing [endomysial antibodies] *If Positive for EMA antibodies and positive for DQ2 or DQ8 HLA testing> Diagnosis of CD is Confirmed [life-long gluten-free diet] *If Negative for EMA antibodies and Negative for HLA BUT Positive for TG2 antibody titers >10 times the upper limits of normal>> Diagnostic extended: Repeated testing and Duodenal Biopsies 2) for Asymptomatic Pt's : Duodenal Biopsies #IgA anti-TG2 decline if the Pt's is on Gluten free diet # In Pt's with Selective IgA Deficiency>> testing is recommended with IgG antibodies to TG2

Ataxia telangiectasia (AT)

# Complex syndrome with immunologic, neurologic, endocrinologic, hepatic, and cutaneous abnormalities # Autosomal Recessive # Mutation (ATM) gene # MC features: Cerebellar Ataxia, Oculocutaneous Telangiectasias, Chronic Sinopulmonary Disease[80%] # Absence of IgA # Highly Sensitive to Ionizing Radiation>> ↑↑ risk for developing malignancies, particularly of lymphoid origin. [ AVOID any radiography] # Tx: Supportive

Citrate toxicity

# Complication of massive transfusion # Hypocalcemia and Metabolic Alkalosis

Diamond-Blackfan anemia (DBA)

# Congenital Bone Marrow Failure Syndrome # Ribosomopathy # Diagnose during 1st yr of life [>90%] # Congenital Anomalies [50%] # >1 anomaly [25%] # Craniofacial abnormalities: MC [50%]: snub nose and high-arched palate. *Skeletal anomalies: upper limb and hand [30%] * Flat thenar eminence, Triphalangeal Thumb and Absent radial artery. * Short Stature Common # Macrocytic, ↑HbF, Thrombocytosis, ↓Reticulocytes%, ↑Iron # Tx: Corticosteroids [80%] Red Cell Transfusions [35%] Hematopoietic stem cell transplantation[HSCT]-curative # Cancer Predisposition Syndrome: Myelodysplastic Syndrome Acute Myeloid Leukemia [AML] Colon Carcinoma Osteogenic Sarcoma Female Genital Cancers Iron Overload-Endocrine (DM, Hypogonadism)

Colic

# Crying more than 3 hours per day for more than 3 days per week for more than 3 weeks !!! # Begins during the 2nd week of life, peaks at 6 weeks, and resolves by the end of the 3 month. # Normal growth, development, and general health. # Uncommon causes: cow's milk protein intolerance, maternal fluoxetine hydrochloride (Prozac) via breast milk, infantile migraine, and anomalous left coronary artery. # Most infants with crying/fussiness DO NOT HAVE GERD, lactose intolerance, or cow-milk protein allergy.

Venom Immunotherapy [VIT]

# Decreasing the risk for severe anaphylaxis [95%] # Effective for: Severe Systemic Reactions [like: Airway involvement or Hypotension] and Specific IgE to venom allergens # Duration of Therapy: 3-5yr # Lifelong Therapy for: Pt's with life threatening Anaphylaxis with Insect Stings, Pt's with Honeybee Allergy, Pt's with Occupational exposures to Hymenoptera and Pt's with Mast Cell Disorders

Hereditary Angioedema (HAE)

# Deficiency of C1 inhibitor [C1 INH] # Autosomal Dominant # sxs: Swelling rapidly, without urticaria, itching, discoloration, or redness and often without severe pain. # Attacks begin in the 1st 5 yr of life [50% of cases] # Tx: 1) Avoid factors [ex: Trauma] 2) Infusion C1-esterase inhibitor 3) Lanadelumab and Ecallantide[inhibitor of kallikrein] -> long-term prophylaxis, preparation for surgery or dental procedures, or treatment of acute attacks 4) Oxandrolone [Androgen]

DiGeorge [a.k.a Velocardiofacial Syndrome]

# Deletion of chromosome 22q11.2 [90% of cases] # Inherit from a Parent [25% of cases] # Neonatal Hypocalcemia[60% of cases] # Also due to: Infants of Diabetic Mothers and Infants to mothers Tx with Retinoic Acid-acne early in pregnancy # Abnormalities of the 3rd&4th Pharyngeal Pouches: Renal Anomalies [35% of cases] Velopharyngeal Insufficiency [32% of cases] Conotruncal defects-heart [25% of cases] Cleft Palate [9% of cases] Thymus Aplasia&Severe Immunodeficiency [1% of cases]

Neonatal Alloimmune Thrombocytopenic Purpura (NATP)

# Development of Maternal Antibodies Against Antigens present on Fetal Platelets that are shared with the Father # This is the Platelet equivalent of Rh Disease of the Newborn # 1st few days after Delivery> Generalized Petechiae and Purpura # Lab: Normal Maternal Platelet Count BUT moderate to severe Thrombocytopenia in the Newborn # Up to 30% with Severe NATP may have ICH # 1st Pregnancies may be Severely Affected and Subsequent Pregnancies are More Severely Affected # Dx: Maternal Alloantibodies Directed Against the Father's Platelets * The MC cause is Incompatibility for the platelet alloantigen HPA-1a!!! # Tx: IVIG Prenatally to the Mother> from 2nd trimester *Delivery: C-section # If Severe Thrombocytopenia persists> Transfusion of 1 unit of Platelets that share the Maternal Alloantigens (e.g., washed maternal platelets)

Fanconi Anemia

# Development of: Bone Marrow Failure and predisposition to Malignancy: Myelodysplasia (MDS) and Acute Myeloid Leukemia (AML) # sxs: 1) Skeletal [MC sxs]: Absence of Radii and/or Thumbs that are Hypoplastic, Supernumerary, Bifid, Congenital Hip Dislocation 2) Skin Hyperpigmentation [trunk, neck], Café-au-lait Spots and Vitiligo 3) Short Stature is Common [Due to Subnormal Growth Hormone (GH) Secretion or Hypothyroidism] 4) Male: Underdeveloped Penis, Undescended, Atrophic or Absent Testes and Hypospadias or Phimosis *** All are Infertile 5) Females: Genital Malformations *** All Reduced fertility 6) Many Pt's have characteristic facial dysmorphisms: Microcephaly, Small Eyes, Epicanthal Folds and Abnormal Shape, Size or Positioning Ears 7) Kidneys: Ectopic, Horseshoe, Hypoplastic, Dysplastic or Absent 8) 10% of Pt's: Cognitively Delayed 9) Neonates: Intrauterine Growth Restriction [IUGR] and Low Birthweight and Malformations with VACTERL 10) Bone marrow Failure: Appears within the 1st decade of life. * Thrombocytopenia, RBC Macrocytosis and ↑HbF # Complications: CANCER! * Squamous Cell Carcinomas (SCCs) of the Head&Neck * Carcinoma of the Upper Esophagus * Carcinoma of the Vulva # Tx: * Mild-Moderate: Observed Closely with Peripheral Blood Counts every 3 mon and Bone Marrow Aspiration every year. * Glucose annually * Screening for Hypothyroidism: yearly * Chromosome Fragility for Siblings and Parents *** HSCT is The Only Curative Therapy *** Androgens [70%]: Oral Oxymetholone and Danazol

Rotavirus

# Diarrhea: Leading Cause of childhood death in the world # The single Most important Cause of severe Dehydrating Diarrhea # Incubation of 48hr> mild to moderate Fever as well as Vomiting, followed by Watery Diarrhea [all 3 sxs 50% of cases] # Dx: PCR stool testing , ELISA # Lab: Isotonic dehydration with acidosis-MC stools are free of blood and leukocytes # 3dose Vaccine at 2, 4, and 6 mon of age

Acute Tubulointerstitial Nephritis [TIN]

# Drugs are the MC cause of acute TIN in children -> NSAID's, Penicillin and Sulfonamides [MC] # sxs: Fever, Rash and Arthralgia in the setting of a rising serum Creatinine. # nausea, vomiting, fatigue, weight loss and flank pain # Peripheral eosinophilia in Drug Induce-TIN # NSAID-induce-TIN can present with nephrotic syn. # Urinalysis: WBC, Granular or Hyaline or WBC Casts *NO RBC CASTS # Because Pyuria-> Initial Dx: UTI # Dx: Clinical + Lab + Renal Biopsy # Tx: Stop the DRUG prednisone [if not improve after stopping the drug] IV methylprednisolone [ in Severe Cases] # Prerenal AKI - Hyaline casts ↑↑ specific gravity (>1.020) ↑↑ urine osmolality (UOsm > 500 mOsm/kg) ↓↓ urine sodium (UNa < 20 mEq/L) ↓↓ Fena < 1% (<2.5% in neonates) # Intrinsic AKI - ATN[brownish granular casts], AIN[ WBC, eosinophils, cellular casts] ↓↓ specific gravity of < 1.010 ↓↓ urine osmolality (UOsm < 350 mOsm/kg) ↑↑ urine sodium (UNa > 40 mEq/L) ↑↑ FeNa > 2% (>10% in neonates) # Postrenal AKI -Bland or bloody ↓↓ urine sodium <20 (Acute) ↑↑ urine sodium >40 (few days) ↓↓ urine osmolality (UOsm < 350 mOsm/kg) ↓↓ Fena <1 (Acute) ↑↑ Fena >1 (few days)

Denys-Drash syndrome (DDS)

# Mutations in the WT1 gene # Pt's present with early-onset Nephrotic Syndrome, progressive Renal Insufficiency, Ambiguous Genitalia, and Wilms tumors

Duodenal Obstruction

# Duodenal atresia 25-40% of All GI atresia's # 50% are Premature # 50% associated Polyhydramnios # 30% have Trisomy21 [down syndrome] # 30% have Jaundice # Concomitant congenital anomalies: heart (30%), malrotation (30%), annular pancreas (30%), renal anomalies (5-15%), esophageal atresia with or without tracheoesophageal fistula (5-10%), skeletal malformations (5%), and anorectal anomalies (5%) # The Hallmark: Bilious Vomiting without abdominal distention, which is usually noted on the first day of life! # Dx: Double-bubble on abdominal x-ray # Tx: initial: NGT decompression & IV fluid replacement. when stabilized: Duodeno-duodenostomy

Menkes disease

# During 1st month of life # Hypothermia, Hypotonia, Myoclonus Seizures # Chubby , Rosey Cheeks , Colorless Hair # Severe Mental Retardation # ↓Cooper serum & ↓ Ceruloplasmin [Defect in copper transport]

Shigellosis

# Dysentery: bloody diarrhea with fever, abdominal cramps, vomiting, rectal + defecation pain, and mucoid stools. * Bacillary dysentery> caused by Entamoeba histolytica. * High Fever with Shigellosis distinguishes it from EHEC # RF: Contaminated food[salad], fresh and salt water # signs: abdominal distention and tenderness, hyperactive bowel sounds, and a tender rectum #Rectal Prolapse >>malnourished children #Neurologic sxs: Seizures, Convulsions, headache, lethargy, confusion, nuchal rigidity, or hallucinations >MC Extra-intestinal sxs of Bacillary Dysentery [40% of hospitalized Pt's] * EIEC can cause similar neurologic toxicity. # Hypocalcemia or Hyponatremia with Seizures # The MC complication of Shigellosis is Dehydration [other: DIC] # Hemolytic-Uremic Syndrome [HUS] is caused by Shiga toxin[non-dysenteria Shigella & E. coli O157:H7] #Rectal prolapse, toxic megacolon or pseudomembranous colitis (usually associated with S. dysenteriae), cholestatic hepatitis, conjunctivitis, iritis, corneal ulcers, pneumonia, arthritis (usually 2-5 wk after enteritis) #Risk groups for severe illness and poor outcomes: Infants, Not Breastfed, HIVB recovering from Measles, Malnourished, Adults >50 yr old and Pt's with: Dehydration, Unconsciousness, hypo- or hyperThermia, Hyponatremia, or lesser stool frequency who have a history of convulsion when first seen. # Dx: Fecal Leukocytes (usually >50 PMNs confirming Colitis), Fecal Blood and Leukocytosis with a dramatic Left Shift. WBC: 5,000-15,000 cells/µL, although Leukopenia and Leukemoid Reactions occur. * Culture and PCR # Tx: Ciprofloxacin [drug of choice for bloody diarrhea] ** Other Options: Azithromycin, Ciprofloxacin or Ceftriaxone (single daily dose IV or IM) for empirical , Cefixime [Orally] , Vitamin A and Zinc * Vitamin A: ↓↓Severity * Zinc: ↓↓Duration of Diarrhea, improves weight gain during recovery, enhances Adaptive Immunity Shigella is resistant to Ampicillin and TMP-SMX!!! # Prevention: prolong breastfeeding, proper handwashing and Measles Immunization

Esophageal Atresia [EA] and Tracheoesophageal Fistula [TEF]

# EA is The MC Congenital Anomaly of the Esophagus # MC form of EA: Upper Esophagus ends in a blind pouch and TEF is Connected to Distal esophagus (type C) # Risk Factors: Advanced Maternal Age, European ethnicity, Obesity, Low Socioeconomic status, Tobacco Smoking and Polyhydramnios #~50% Have: VATER (vertebral defects, imperforate anus, tracheoesophageal fistula, radial and renal dysplasia) syndrome # sxs of EA: Frothing and Bubbling [mouth and nose] after birth, Salivation, Coughing, Cyanosis and Respiratory Distress. * Feeding exacerbates these sxs>> causes Regurgitation, and Aspiration. * Isolated TEF in the absence of EA ("H-type" fistula)> sxs later in life: Chronic Respiratory problems: refractory Bronchospasm and recurrent Pneumonias # Dx: Inability to pass NGT into stmoach>> suggests EA * Plain x-ray: Coiled feeding tube in the Esophageal Pouch and/or Air-distended stomach>> Indicating presence of coexisting TEF. *Pure EA: Airless Scaphoid Abdomen # Tx: maintaining Patent Airway *Pre-operative proximal pouch Decompression to prevent: Aspiration *Antibiotics to prevent: Pneumonia *Prone Positioning: ↓Reflex Gastric content .*Surgical ligation [TEF] and Primary end-to-end Anastomosis of Esophagus via right sided Thoracotomy * AVOIDE: Endotracheal Intubation with Mechanical Ventilation> They can worsen distention of the stomach # Complications: GERD Reactive Airway Disease Delayed Gastric Emptying

Tricuspid Atresia

# Early cyanosis # Decrease pulmonary perfusion # ECG: LVH , L-Axis deviation

Pulmonic atresia

# Early cyanosis # Large heart

Transposition of the great vessels

# Early cyanosis # No Cardiomegaly # Egg-on-String # ECG: RVH , R-Axis deviation

Thiamine (Vitamin B1) Deficiency

# Early sxs: Fatigue, Apathy, Irritability, Depression, Drowsiness, Poor Mental Concentration, Anorexia, Nausea and Abdominal Discomfort # BeriBeri: Peripheral Neuritis (Tingling, Burning, Paresthesias of the toes and feet), ↓Deep Tendon Reflexes, Loss of Vibration Sense, Tenderness and Cramping of the leg muscles, Heart Failure and Psychologic Disturbances. # Dry (neuritic) and Wet (cardiac) [ depends on fluid]

Russell Sign

# Eating disorder # self-induced vomiting [Calluses over proximal knuckle joints of hand] # Other sxs associated with Eating disorder: hypothermia, bradycardia, hypotension, fatigue, growth stunting, delayed puberty, irregular periods (oligomenorrhea and amenorrhea), lanugo and hair loss, brittle nails and hair, tooth decay and gingivitis, and salivary gland enlargement.

Foreign Body in Esophagus

# Emergency, potential for perforation and sepsis. # The MC ingested foreign bodies: coins and small toy # 30% with NO sxs # Choking, gagging, coughing, excessive salivation, dysphagia, food refusal, emesis, or pain in the neck, throat, or sternal notch regions. # Stridor, wheezing, cyanosis, or dyspnea- larynx or membranous posterior tracheal wall # Cervical swelling, erythema, or subcutaneous crepitations suggest perforation of the oropharynx or proximal esophagus. # AP Xray of the neck, chest, and abdomen, along with lateral views of the neck and chest.

Goiter

# Enlargement of the Thyroid Gland # Can be: Eu/Hypo/Hyper- Thyroidism # The MC causes: Inflammation (Chronic Lymphocytic Thyroiditis) and in Endemic Areas: Iodine Deficiency (endemic goiter) # Other causes: Inborn Errors in Thyroid Hormone Synthesis (Dyshormonogenesis), Thyrotropin Receptor-Stimulating antibodies (TRSAb) in Graves disease and Maternal Ingestion of Antithyroid Drug # Iodine Deficiency Goiter: TSH-Normal ↓T4 and ↑T3 * Endemic Cretinism: The Most Serious Consequence of Iodine Deficiency

Acute Flaccid Myelitis (AFM)

# Enterovirus # Paralysis or Weakness, CSF Pleocytosis and MRI: myelitis with abnormalities of: Anterior horn gray matter # Paralysis may be Asymmetric without Sensory Deficit # Cranial Nerve: Facial weakness, Dysarthria and Dysphagia # Tx: Steroids and IVIG

Herpangina

# Enterovirus [Coxsackie A type is MC] # sxs: fever, sore throat, dysphagia, painful lesions in the posterior pharynx. *Headache and Backache in: older children *Vomiting and Abdominal pain in: 25% of cases # 1-2 mm vesicles and ulcers that enlarge over 2-3 days and surrounded by erythematous rings: anterior tonsillar pillars, soft palate, uvula, tonsils, posterior pharyngeal wall and posterior buccal surfaces. # Complications: dehydration and meningitis # Resolution in 3-7 days

Myocarditis and Pericarditis

# Enterovirus- account for 25-35% of Myocarditis cases > Coxsackie B viruses are MC # Upper respiratory symptoms frequently precede fatigue, dyspnea, chest pain, congestive heart failure, and dysrhythmias. # Presentations may mimic MI, sudden death may also occur (including apparent SIDS). # Pericardial friction rub # CXR: cardiac enlargement # Echo: ventricular dilation, ↓↓contractility, and/or pericardial effusion

Neurologic Manifestations of Enteroviruses

# Enteroviruses are the MC cause of viral meningitis in mumps-immunized populations, accounting for up to 90% # Enteroviruses are also responsible for ≥10-20% of cases of Encephalitis

Seborrheic Dermatitis (Cradle Cap)

# Erythematous and greasy, yellowish scaling on vulva and labial crural folds associated with greasy dandruff-type rash of scalp, behind ears and face. # Greasy scales that flake and crumble as they are detached from the epidermis; # Associated changes in: scalp, forehead, cheeks, brow, postauricular areas, and concha ***Usually No itchy and limited to scalp

sinusitis

# Ethmoidal & maxillary: present at birth, ethmoid is pneumatized while maxillary become pneumatized by age 4. #sphenoidal sinus: present at age 5 # frontal sinus: present at age 7 but not completely developed # The ostia draining sinus: middle meatus # paranasal sinus: sterile, maintained by mucocilliary clearance system # pus from middle meatus: maxillary, frontal and anterior ethmoid sinus #pus in superior meatus: sphenoidal OR posterior ethmoidal sinus # causes: strep pneumonia[30%], non-typ hemophilus influenza[20%], Moraxella[20%] # Tx: Amoxicillin # frontal sinusitis: can rapidly progress to serious intracranial > ceftriaxone IV

Subacute Thyroiditis [a.k.a de Quervain Disease]

# Etiology: Virus # Pain, Low-grade Fever, Minimal Thyroid Tenderness and Lab of Thyrotoxicosis: ↓TSH and ↑T4&T3 [↑ESR] # 4 Phases: Thyrotoxic, Euthyroid, Hypothyroid and Remission to Euthyroidism # Dx Confirmed by: ↑ ESR No/ Low Radioiodine uptake # Associated with: HLA-B35

Thyroid Storm

# Extreme form of Hyperthyroidism Severe Biochemical Derangement Hyperthermia Tachycardia Heart Failure Restlessness # Rapid progression to: Delirium, Coma and Death # Precipitating events include: Trauma, Infection, Radioactive Iodine (RAI) Treatment or Surgery

Ileus

# Failure of intestinal peristalsis caused by loss of coordinated gut motility without evidence of mechanical obstruction # Associated with Abdominal surgery or Infection (Gastroenteritis, Pneumonia, Peritonitis) # Accompanies metabolic abnormalities (e.g., Uremia, Hypokalemia, Hypercalcemia, Hypermagnesemia, Acidosis) or drugs: Opiates, Vincristine, and antimotility agents such as Loperamide when used during gastroenteritis. # sxs: nausea, vomiting, feeding intolerance, abdominal distention with pain, delayed passage of stool and bowel gas. # Bowel sounds are minimal or absent [ in contrast to early mechanical obstruction>>hyperactive] # Abdominal imaging: multiple air-fluid levels # Tx: underling cause , NGT decompression and isotonic crystalloid solution

Slipped Capital Femoral Epiphysis [SCFE]

# Failure of the Physis and Displacement of the Femoral Head relative to the Neck # Age 6-10 yr # Risk factor: Obesity! # Stable SCFE: when the child is able to walk with or without crutches. # Unstable SCFE: when the child is Unable to walk with or without crutches. * Unstable SCFE: Osteonecrosis (up to 50%) # Head-Shaft angle : Mild<30 , Moderate 30-60, and Severe >60. # Boy, Black and Obese . age 10-16yr [female younger] * Limp and externally rotated lower extremity * Restriction of internal rotation, abduction, and flexion * Affected hip is flexed * Groin sxs but isolated thigh or knee pain is Common! * Pain along the course of the Obturator nerve # Refuse to allow any range of motion of the hip [like a hip fracture] * Extremity: shortened, abducted and externally rotated # Dx: AP and frog-leg lateral x-ray ["blanch sign of Steel"] * check both hips because 25% of Pt's present with contralateral slip] * Klein's line: NO intersection with the epiphysis # Tx: Hospital Immediately and bed rest [TOC]: In Situ Pinning with a Single large Screw * Pt's with Severe Residual Deformity: Proximal Femoral Osteotomy * Prophylactic Pin Fixation of the contralateral side (Normal) in Pt's with a Unilateral SCFE due to high risk. # Osteonecrosis and Chondrolysis are the 2 Most Serious complications of SCFE!!!

Simple motor tics

# Fast, brief movements involving one or a few muscle groups # Example: eye blinking, neck jerking, shoulder shrugging, extension of the extremities

Niemann-Pick disease (NPD)

# Fatal disorder of Infancy # Failure to thrive, Hepatosplenomegaly, Psychomotor Retardation [by 6mon of age] and a rapidly progressive Neurodegenerative course that leads to Death by 2-3 yr of age # Tx: Orthotopic Liver Transplantation Cord Blood Transplantation Bone Marrow Transplantation

Hand-Foot Syndrome [a.k.a Dactylitis]

# First sxs pain in Pt's with Sickle Cell Anemia # by 2yr of age>> present in 50% of cases # Painful Swelling and Redness of the hand & foot # May be associated with Antineoplastic Chemotherapy or Sickle Cell Disease. # Tingling or Numbness are also observed

Brucella

# Food borne: Unpasteurized milk [ goat cheese] # Incubation: 2-4wks # Infected livestock: the MC source of human infection # The MC signs: Fever[>75% of cases], Arthralgia, Myalgia and Back Pain # other systemic sxs: fatigue, sweats, chills, anorexia, headache, weight loss, malaise [less in children]. Other associated symptoms include abdominal pain, diarrhea, rash, vomiting, cough, and pharyngitis # Triad: Fever [>75% of cases], Arthralgia and Hepatosplenomegaly[50% of cases] !!! * NOT Arthritis! -Monoarticular knee/hip # Hematologic sxs [common]: thrombocytopenia, leukopenia, anemia, or pancytopenia. Hemolytic complications: microangiopathic hemolytic anemia, thrombotic microangiopathy, and autoimmune hemolytic anemia. ↑↑ liver enzymes [50% of cases]. # Serious sxs: endocarditis, meningitis, osteomyelitis, and spondylitis # Dx: serum agglutination test is the most widely used and detects antibodies [ NOT for B.canis] titers of ≥1 : 160. # Tx: 1) for age <8 yr: TMP/SMX plus Rifampin 2) for age>8 yr: Doxycycline plus Rifampin 3) for serious sxs: Gentamicin [for the 1st 7-14 days] continue with Doxycycline or TMP/SMX plus Rifampin [for 4-6 mon] ** Tx continued for up to 1 yr in severe CNS disease # common signs: refuse to eat, lassitude[תשישות], refuse to bear weight , FTT

Listeriosis (Listeria monocytogenes)

# Foodborne pathogen # Affect neonates, pregnant women, the elderly, and the immunocompromised host. # The mother sxs: flu-like illness and gastroenteritis #Early onset disease usually presents at 1 to 2 days of age and typically exhibits a "septic-like picture" #Late-onset disease typically presents at 2 weeks of age, most commonly as meningitis. #Dx: culture of L. monocytogenes from blood or CSF #Tx: Ampicillin with OR without Aminoglycoside

Indication for Tonsillectomy and Adenoidectomy Together:

# For Recurrent infection: are the same as those for Tonsillectomy Alone!!! # Other indication for both procedures: 1) Upper airway obstruction secondary to Adenotonsillar Hypertrophy that results in Sleep-disordered breathing 2) Failure To Thrive, Craniofacial or Occlusive developmental abnormalities, Speech abnormalities, or, rarely, Cor Pulmonale #High proportion of children with FTT in the context of Adenotonsillar Hypertrophy resulting in Sleep disorder experience significant Growth Acceleration after Adenotonsillectomy. # Rare cases: children with Chronic airway obstruction from Enlarged Tonsils and Adenoids can present with Cor Pulmonale

The Candida Skin Test

# For T- cell function # Age>6 # Tested by intradermal injection 0.1ml of 1:1000 dilution of candida albican # if NEGATIVE reguslt at 24hr,48hr and 72hr do 1:100 dilution [ this is also can be tested age<6] # if POSITIVE ( erythema + induration>10mm at 24hr,48hr) - all primary T-CELL defect precluded > need extensive in-vitro test like: Lymphocyte phenotype OR assessment response

Adenoidectomy

# For the Tx of: 1) Chronic nasal infection (chronic adenoiditis) 2) Chronic sinus infections that have failed medical Tx 3) Recurrent bouts of AOM [including Pt's with Tympanostomy Tubes suffer from recurrent otorrhea] 4) Chronic / Recurrent Otitis Media with Effusion. 5) Upper Airway Obstruction is suspected of causing Craniofacial or Occlusive developmental abnormalities. # Curative Tx for: Nasal Obstruction Chronic Mouth Breathing Loud Snoring suggesting sleep-disordered breathing

Giardia Lamblia

# Foul-smelling Diarrhea and Constipation, Malabsorption, Chronic Crampy Abdominal Pain and Bloating, FTT or Weight Loss. # Stools doNOT contain blood, mucus or fecal leukocytes # Tx: Nitazoxanide or Tinidazole has the advantage of single-dose treatment [>90%] and Metronidazole

Gastric Outlet Obstruction (GOO)

# From pyloric atresia and antral webs -Rare!!! # Pyloric atresia- associated with epidermolysis bullosa # Nonbilious vomiting, feeding difficulties, and abdominal distention during the 1st day of life ! # Polyhydramnios in Most cases and low birth weight # Dx: large, dilated stomach on abdominal plain radiographs or in utero U/S. Upper GI contrast series is usually diagnostic and demonstrates a pyloric dimple # Tx: correction of dehydration and hypochloremic alkalosis and when stable >> endoscopic repair

Legionnaires disease (Legionella pneumonia) -99.5% of legionella

# From water or Aerosols [exp: AC] # Atypical Pneumonia: Fever, cough [any type], chest pain, tachypnea and dyspnea. #other sxs: abdominal pain, diarrhea, headache, confusion, Hyponatremia, hypophosphatemia, abnormal liver function test results, and renal dysfunction. #CXR: tumor-like shadows, evidence of nodular infiltrates, unilateral or bilateral infiltrates, or cavitation # Dx: Culture of Legionella from sputum [gold standard] **urinary antigen assay for: L. pneumophila serogroup I # Tx: Azithromycin, Clarithromycin or Quinolones (Ciprofloxacin and Levofloxacin) *Doxycycline is alternative # Corticosteroid therapy poses a high risk for infection

Sturge-Weber syndrome (SWS)

# GNAQ Mutation 1) Facial capillary malformation (port-wine stain), 2) Abnormal blood vessels of the brain>>Leptomeningeal Angioma 3) Abnormal blood vessels of the eye>>Glaucoma. # Buphthalmos and Glaucoma of the ipsilateral eye are Common Complications!!! # Pt's present with: Seizures [80% of cases], prolonged postictal deficits, hemiparesis, stroke-like episodes, headaches, and developmental delay. #Dx: MRI with contrast is the imaging modality of choice for demonstrating the leptomeningeal angioma in SWS #Tx: Pulsed-dye laser therapy, Antiepileptic drugs and Intraocular pressure reduction

Sandifer Syndrome

# Gastroesophageal reflux # Generalized stiffening and opisthotonic posturing # apnea, staring, and minimal jerking of the extremities. # episodes often occur 30 min after a feed.

Long QT Syndromes [LQTS]

# Genetic abnormalities (mutation-80% of cases) # Associated: malignant ventricular arrhythmias (torsades de pointes and VF). # sxs: syncope and sudden death and may be the cause of some cases of: sudden infant death syndrome, drowning, and intrauterine fetal demise # Jervell-Lange-Nielsen syndrome: associated with congenital sensorineural deafness. # 13 varients - most of them Uncommon *LQT1- induced by stress or exertion *LQT2- postpartum period or with auditory triggers *LQT3- occur at rest, sleep [highest probability for sudden death] # sxs: syncopal-exercise, fright, or sudden startle

Familial Mediterranean Fever (FMF)

# Genetic disorder caused by mutations in the MEFV gene>>auto-inflammatory disorder characterized by recurrent fever and serositis, as well as rash and arthritis. # The serositis: severe abdominal pain, but pleuritis and pericarditis can occur as well. # Amyloidosis due to chronic inflammation has been the primary cause of poor outcomes in FMF. #Colchicine is the Tx of choice in FMF>>it reduces the number and severity of attacks in FMF, as well as the occurrence of amyloidosis in this population of patients. # Amyloidosis, caused by the accumulation of amyloid in organs, can be diagnosed by RENAL or GI biopsy, or by abdominal fat pad aspiration. # Amyloidosis is a late finding in FMF

Scarlet Fever

# Group A streptococcus (GAS) pyogenes # Rash [Neck(1st)>trunk>extremities] in 3-4days: Desquamation and Strawberry Tongue - sandpaper rash - pharyngitis - fever - strawberry tongue - Tx: PO Penicillin V or Amoxicillin X10days if Allergic> Cephalosporin. if Resistanc> Clindamycin [if allergic to clindamycin>> Macrolides] # Start Therapy Immediately even before Lab conformation!

Crohn disease

# Hypoalbuminemia [50-60%] # low MCV [ Iron-deficiency-Anemia] * WE DONT see in Crohn: - Hyperbilirubinemia - ↑BUN - Hypophosphatemia

Transient Hypoparathyroidism

# Hypocalcemia: Tetany or Seizure in Newborn # Hyperphosphatemia # Low PTH level # Testing for DiGeorge Syndrome

Infants of diabetic mothers (IDM)

# Hypoglycemia [25-50% of cases] # Cardiomegaly [ 30% of cases] # Tachypnea [1st 2days of life] # incidence of congenital anomalies is increased 3-fold # Higher incidence of Respiratory Distress Syndrome

Poor prognosis for meningococcal factor:

# Hypothermia OR Extreme Hyperpyrexia # Hypotension OR Shock # Purpura Fulminans # Seizures # Leukopenia # Thrombocytopenia [including DIC] # Acidosis # High Endotoxin& INF alpha # Petechia<12hr before admission # Absence meningitis # Low-normal ESR

IUGR or Physical Abnormality on Prenatal fetal Ultrasound raises concern for:

# IUGR is: Deficiency of Fetal Growth and Abnormal Fetal Growth Trajectory # Congenital Infection: "TORCH" mnemonic T-toxoplasma gondii O-other (Treponema pallidum, parvovirus B19, HIV, Zika virus, others) R-rubella C-cytomegalovirus H-herpes simplex virus (HSV) # Other Causes of IUGR: Placental Insufficiency, Environmental Factors (Maternal Smoking) and certain Congenital Conditions (Aneuploidy)

Alport Syndrome [AS] (Hereditary Nephritis)

# IV collagen # 85% X-linked , COL4A5 gene # All Pt's have: Asymptomatic Microscopic Hematuria # Gross Hematuria in 1-2 post URTI [50% of cases] # Proteinuria [ in male] # Bilateral Sensorineural Hearing Loss # Eye: Anterior Lenticonus ~ in 30-40% of cases # Dx: FHx, screening Urinalysis of 1st-degree relatives, Audiogram and Ophthalmologic examination # Tx: ACEi or ARBi * if ESRD > dialysis and kidney transplantation #Fechtner syndrome (AS with Macrothrombocytopenia)

Maternal Phenylketonuria (PKU)

# If pregnant woman is NOT on phenylalanine restricted diet>> high risk for child with: Intellectual disability Microcephaly Growth retardation Congenital malformations Congenital heart disease # The recommended phenylalanine concentration is: 2-6 mg/dL

Meconium ileus

# Impaction of inspissated meconium in the distal small bowel # Accounts for up to 30% of cases of neonatal intestinal obstruction. # It is Common in Pt's with CF [25% for 2copies] # Present with intestinal obstruction with or without perforation. Abdominal distention is prominent, and vomiting, often bilious, becomes persistent, although occasionally inspissated meconium stools may be passed shortly after birth. # Meconium ileus can present as early as in utero, in which the fetus develops acute intestinal obstruction resulting in volvulus or perforation, peritoneal ascites, meconium peritonitis, and hydrops # Tx: for simple meconium ileus is a high-osmolarity Gastrografin enema, as described for meconium plugs. If the procedure is unsuccessful or perforation of the bowel wall is suspected>> laparotomy # 50% of these infants have associated intestinal atresia, stenosis, or volvulus that requires surgery

Serious Bacterial Infection [SBI]

# In 7-13% of Neonates and Young Infants with Fever! # The MC SBI: UTI [5-13%] -> Bactermia [1-2%]-> Meningitis [0.5%]. # E.coli is The MC Organism causing SBI -> followed by GBS

Splenectomy

# Indications: traumatic splenic rupture anatomic defects severe transfusion-dependent hemolytic anemia immune-mediated cytopenias metabolic storage diseases secondary hypersplenism. # The major long-term risk of splenectomy is sudden, overwhelming post-splenectomy infections (sepsis or meningitis)!!! [high in children <5 yr old at surgery] # The risk of sepsis is less when splenectomy is performed for trauma, RBC membrane defects, and immune thrombocytopenia than when there is sickle cell anemia, thalassemia, or a preexisting immune deficiency (Wiskott-Aldrich syndrome, Hodgkin disease) or reticuloendothelial blockade (storage disease, severe hemolytic anemia) # Encapsulated bacteria: Strep pneumoniae (>60% of cases), H.influenzae, and N.meningitidis, account for >80% of cases of posts-plenectomy sepsis. #Febrile splenectomized Pt's : Cefotaxime or Ceftriaxone. Vancomycin-to cover penicillin-resistant pneumococci #Pneumococcal, meningococcal, and H. influenzae conjugate vaccines(PCV13) given at least 14 days before splenectomy may reduce post-splenectomy sepsis!!! # The 23-valent pneumococcal polysaccharide vaccine (Pneumovax) should be given at age ≥2 yr and a 2nd dose 5 yr later # Prophylaxis with oral penicillin VK should be given until at least 5 yr of age and for at least 2 yr after splenectomy!!! # In children with sickle cell disease>>penicillin prophylaxis>>start as soon as the diagnosis is made. # Complications: Post-splenectomy sepsis and Thromboembolic complications: arterial and venous [portal] thrombosis and pulmonary hypertension

Mosaicism - Pallister-Killian syndrome

# Individual or Tissue that contains ≥2 different cell lines typically derived from a single Zygote and the result of Mitotic Nondisjunction! [exp: Pallister-Killian syndrome] 1) Pallister-Killian syndrome: # mosaicism for an isochromosome 12p # sxs: Coarse facies (prominent full cheeks) Abnormal ear lobes Localized alopecia (sparse hair in the temporal regions) Pigmentary skin anomalies Diaphragmatic hernia Cardiovascular anomalies Supernumerary nipples Seizures Intellectual disability

Infant Dyschezia

# Infants straining prior to defecation associated with visible distress, crying, a red/purple facial discoloration, with symptoms persisting for 10-20 min alleviated by the passage in stools # Infants < 9 mon of age. # There is no associated obstruction or anal anomaly # Stools are passed several times daily and are not associated with other health problems

Phenylketonuria (PKU) - Infant

# Infants: normal at birth! # Inadequate intake of natural proteins>>the Major culprit # Intellectual disability in few mon if Untreated ! # Vomiting is severe[ may be early sxs] # Older Untreated: purposeless hand movements, rhythmic rocking, and athetosis [involuntary writhing movements.] # Eczema/Seborrheic rash, musty odor, seizures ( 25%), spasticity, hyperreflexia, tremors, microcephaly, prominent maxillae with widely spaced teeth, enamel hypoplasia, and growth retardation # Low bone mineral density and Osteopenia # Dx: quantitative plasma phenylalanine>20 mg/dL # 50% have EEG abnormalities # Tx: low-phenylalanine diet Sapropterin dihydrochloride

Erb-Duchenne paralysis

# Injury is limited to the 5th and 6th cervical nerves # Loss the power to abduct the arm from the shoulder, rotate the arm externally, and supinate the forearm. The characteristic position consists of adduction and internal rotation of the arm with pronation of the forearm #Moro reflex is absent on the affected side #the presence of hand grasp is a favorable prognostic sign!

Klumpke paralysis

# Injury to the 7th and 8th cervical nerves and the 1st thoracic nerve # produce Horner Syndrome: Paralyzed Hand and Ipsilateral Ptosis and Miosis * Involvement of the Deltoid is: The Most Serious problem and may result in: Shoulder Drop #MRI: Nerve Root Rupture or Avulsion

Sydenham Chorea

# Involuntary Uncoordinated jerks of the arms and legs # The MC acquired Chorea of childhood # After infections with group A β-hemolytic streptococci, and is associated with rheumatic heart disease and arthritis. 1)"milkmaid" grip with sequential grip tightening and relaxing 2)darting tongue 3)spooning and pronation of the hands when the patient's arms are extended 4)examination of handwriting to evaluate fine motor movements # Tx: Phenobarbital [DOC]

Diagnosis of Meningococcal disease

# Isolation N. meningitidis from body fluid: blood ,CSF # Culture can be negative initially (30% of cases) # Lumbar Puncture for diagnosis in Pt's without contraindication # Contraindication of LP: *↑ICP(Bulging fontanelle) or (Cushing reflex: HTN, Bradycardia with Respiratory Abnormalities) *Septic shock *Coagulopathy *Thrombocytopenia<20 *Respiratory distress *Seizures *Local skin infection # Lab: Leukocytopenia or Leukocytosis, ↑Neutrophils and Band forms, Anemia, Thrombocytopenia, Proteinuria, Hematuria, ↑ESR and CRP, Hypoalbuminemia, Hypocalcemia, Hypokalemia, Hypomagnesemia, Hypophosphatemia, Hypoglycemia, Metabolic Acidosis and ↑LDH * ↑CRP with Fever and Petechiae more likely * Coagulopathy: ↓Prothrombin and Fibrinogen and Prolonged Coagulation Times # CH50 test: Abnormal results ↑↑susceptibility to Recurrent Neisseria bacteremia. [check complement deficiency]

Hypernatremia

# Na+ >145 mEq/L # The Most Severe Complication: Brain Hemorrhage # idiogenic osmoles inside brain cells # If correct rapidly->brain swelling manifests as seizures or coma-> Tx: 3% saline can acutely increase the serum [Na+ ], reversing the cerebral edema The goal is to decrease the serum [Na+ ] by <10 mEq/L every 24 hr.

Glanzman Syndrome

# Normal PT and PTT and Platelet count # Prolonged Bleeding Time # Lack GPIIb/IIIa - which is required for bridging platelets > platelets can aggregate #Dx:flow cytometric analysis of the Pt's platelet glycoproteins. #no response to ADP, Serotonin , Thromboxane A2 , Epinephrine

Klinefelter Syndrome (XXY)

# Karyotype: 47 XXY # Etiology: MC due to nondisjunction of sex chromosomes during meiosis of parental germ cells Clinical features: Male Symptoms rarely observed during childhood Testicular dysgenesis and subsequent testosterone deficiency become apparent at the onset of puberty. Eunuchoid growth pattern; tall, slim stature with long extremities Gynecomastia, reduced body hair Testicular hypoplasia with a normal sized penis Reduced fertility Mitral valve prolapse #Dx: karyotyping confirms the diagnosis #Complications: Increased risk of breast cancer development due to decreased levels of testosterone and increased levels of estrogen. Testicular hypoplasia → ↓ testosterone → loss of negative feedback on gonadotropins → ↑ FSH → ↑ aromatase activity → ↑ testosterone to estradiol conversion #Tx: testosterone substitution

Focal Segmental Glomerulosclerosis (FSGS)

# Lesions can be secondary to HIV, VUR and IV Heroin # Only 20% of Pt's respond to Prednisone. # The MC cause of End-Stage Renal Disease in Adolescents # The MC cause of Idiopathic Nephrotic Syndrome in older age> 6yr

ventricular septal defect (VSD) murmur

# Loud, harsh, or blowing holosystolic murmur -lower left sternal border # Accompanied by a thrill # The holosystolic murmur of a large VSD is less harsh than that of a small VSD and more blowing !

Adrenal Insufficiency:

# MC Cause in Infancy [Congenital]: salt-losing forms of CAH [75% of infants with 21-hydroxylase deficiency] # MC Cause of Addison Disease [Acquired]: Autoimmune Destruction of the Glands * Anti-adrenal Cytoplasmic Antibodies * 21-hydroxylase (CYP21): Autoantigen # The MC Infectious etiology for Adrenal Insufficiency is Meningococcemia * Adrenal Crisis from this cause: Waterhouse-Friderichsen syndrome # Drug Cause Adrenal Insufficiency: Ketoconazole Etomidate Fatigue Anorexia / weight loss Nausea and Vomiting ↓BP / orthostatic HoTN Skin/mucosa Hyperpigmentation [only primary] High ACTH [ only primary] High plasma Renin [ only primary] Hyperkalemia [ only primary] Hyponatremia Hypoglycemia and Ketosis Low random Cortisol level # Dx: Serum Cortisol before &after ACTH-Cosyntropin # Tx: *IV 5% Glucose in 0.9% Saline [correct Hypoglycemia, Hypovolemia and Hyponatremia] * Calcium and/or Bicarbonate, Intrarectal Potassium-Binding Resin (sodium polystyrene sulfonate, Kayexalate) or IV Glucose and Insulin [Hyperkalemia] * IV Hydrocortisone Sodium Succinate * If Aldosterone Deficiency-> PO Fludrocortisone [plasma Renin: monitor Mineralocorticoid Replacement] *Hypotonic fluids (e.g. 5% Glucose in water or 0.2% Saline) Must be Avoided-> Exacerbate Hyponatremia # Secondary Adrenal Insufficiency: MC occurs when the HPA axis is Suppressed by Prolonged high doses Glucocorticoid which is Suddenly Withdrawn /Stopped * low-dose ACTH stimulation testing [Dx 2nd AI] * Up to 60% of Prader-Willi syndrome have 2nd AI

Acute Lymphoblastic Leukemia[ALL]

# MC childhood malignancy[85%] # AML represent 15% of leukemia # Age:2-6yr

Transient Hypothyroxinemia

# MC in Premature Infants # Low Thyroxine levels [T4] # Normal Thyrotropin level [TSH] # Thyroid Hormone Replacement: No Difference in Developmental Outcomes or Morbidities # Follow Thyroxine[T4] until levels Normalize

urinary tract infection (UTI)

# MC in children under age 1 yr ! # In males, most UTIs occur during the first year of life # UTIs are much more common in Uncircumcised males # In females, the first UTI usually occurs by the age of 5 yr, with peaks during infancy, toilet training, and onset of sexual activity 1) Pyelonephritis: abdominal, back, or flank pain; fever, malaise; nausea; vomiting; and, occasionally, diarrhea. **Fever may be the only manifestation; particular consideration should occur for a temperature > 39°C without another source lasting more than 24 hr for males and more than 48 hr for females. **Newborns: poor feeding, irritability, jaundice, and weight loss. **Pyelonephritis is the most common serious bacterial infection in infants younger than 24 mo of age who have fever without an obvious focus! **Renal abscess: S. aureus or pyelonephritic infection caused by the usual uropathogens. Most abscesses are unilateral and right sided and can affect children of all ages 2) Cystitis: dysuria, urgency, frequency, suprapubic pain, incontinence, and possibly malodorous urine. Cystitis does NOT cause high fever and does NOT result in renal injury. **Malodorous urine is not specific for a UTI. **Acute hemorrhagic cystitis: uncommon in children, is often caused by E. coli; it also has been attributed to Adenovirus types 11 and 21. it is self-limiting, with hematuria lasting approximately 4 days. Patients receiving immunosuppressive therapy (bone marrow transplantation) are at higher risk for hemorrhagic cystitis. **Eosinophilic cystitis: hematuria **Interstitial cystitis: irritative voiding symptoms but a negative urine culture.

Acute Mastoiditis

# MC organism: Strep Pneumonia[ 10-50%] # Least Common organism: H.Influenzae [2-3%] # Present simillar to AOM and 97% of Mastoiditis have coexisting AOM [ on same side] # Sxs: Protrusion of the ear (87%) Retroauricular Erythema (87%) Retroauricular Swelling and Tenderness (67%) Fever (60%) Otalgia Hearing Loss # Children with acute mastoiditis were less likely to have Bilateral Infection # Dx: clinical and CT [bony demineralization, loss of bony septations and subperiosteal abscess]

External Otitis (Swimmer's Ear)

# MC pathogen is P. aeruginosa # sxs: ear pain[accentuated by manipulation of the pinna] itching. *Acute disease: edema of the ear canal, erythema, and thick, clumpy otorrhea. *other sxs: palpable and tender LN in the Periauricular region, erythema and swelling of the pinna and Periauricular skin. * Ear canal and TM cannot be adequately visualized * Cerumen is WHITE and soft [normally it's yellow] # Tx: 1)Topical Acetic Acid+ Hydrocortisone+ Neomycin 2)Polymyxin 3)Hydrocortisone

Tyrosinemia Type I

# Normal at birth. sxs appear in 2-6mon of life 1) Hepatic Crisis: fever, irritability, vomiting, hemorrhage, hepatomegaly, jaundice, ↑serum transaminases, hypoglycemia, and neuropathy are Common! *Odor resembling boiled cabbage [↑methionine] *Hepatic crises progress to liver failure and death. Between the crises: FFT, hepatomegaly, and coagulation abnormalities often persist. *Cirrhosis and eventually HCC occur with ↑↑age 2) Peripheral neuropathy [40%]: severe pain in legs with extensor hypertonia of the neck and trunk, vomiting, and paralytic ileus 3) Kidney: Fanconi-like-syndrome: hyperphosphaturia, hypophosphatemia, normal-anion gap metabolic acidosis, and vitamin D-resistant rickets. # Dx: ↑↑Succinylacetone in serum and urine # Tx: Nitisinone - treatment of choice !!!

Chlamydia trachomatis - Genital Tract Infections

# Major cause of epididymitis and nongonococcal urethritis [25-55%] # Active sexual - high risk # asxs[MC~75% of cases] # cervicitis, salpingitis, epididymitis, urethritis, proctitis, PID. # Mucoid discharge and dyspareunia #Dx: nucleic acid amplification test [ NAAT] Or culture *cervical swabs from adolescent girls and women *urethral swabs from adolescent boys and men *urine from adolescents and adults #Tx: 1)Uncomplicated infection in men and Nonpregnant woamn: Azithromycin (1 g PO as a single dose) and doxycycline (7days) *alternative: erythromycin, ofloxacin and levofloxacin 2)For pregnant woman: azithromycin (1 g PO as a single dose) or amoxicillin ( 7 days). *alternative: erythromycin **Doxycycline and Quinolones are contraindicated in pregnant women!!! **Quinolones are contraindicated in <18 yr of age **Sexual partners should be treated as well!!! #Complications: perihepatitis (Fitz-Hugh-Curtis syndrome) and salpingitis **50% of neonates born to untreated mother will have infection **PID: 1) Signs of Lower genital tract infection: vaginal discharge [yellow thick], suprapubic pain, cervical tenderness 2) Signs of Upper genital tract infection: fever, ↑ESR ,leukocytosis and adnexal tenderness or mass. ** Proctocolitis= rectal infection with LGV strain # Chlamydia Trachomatis and Neisseria gonorrhea > the MC bacterial STI in young woman

Thrombotic Thrombocytopenic Purpura (TTP)

# Majority cases due to Deficiency of ADAMTS13 # Pentad: 1) Microangiopathic Hemolytic Anemia [MHA] 2) Thrombocytopenia 3) Renal Failure [ ↑BUN and Creatinine] 4) Fever 5) Neurologic Findings [similar to HUS] # MHA: Abnormal RBCs Schistocytes [Peripheral smear blood] Spherocytes Helmet cells ↑Reticulocyte with Thrombocytopenia # <10% ADAMTS13-> idiopathic TTP [ more common in pregnant women and HIV] # Findings to Support TTP: ↑ LDH ↑ Indirect Bilirubin ↑ Reticulocyte count ↓Haptoglobin Negative direct antiglobulin test # Tx Acquired: Plasmapheresis (plasma exchange) # Tx Congenital: Fresh-Frozen Plasma [FFP] # Tx for refractory or relapsing TTP: Rituximab [Most Efficacy] Vincristine Cyclophosphamide Splenectomy

Prune Belly Syndrome (Eagle-Barrett Syndrome OR Triad syndrome)

# Males 95% of cases !!! # Deficient abdominal muscles, undescended testes, and urinary tract abnormalities probably results from severe urethral obstruction in fetal life. # Oligohydramnios and pulmonary hypoplasia are common complications in the perinatal period # Many cases : Stillborn[30%] and Vesicoureteral reflux # Urinary tract abnormalities: Massive dilation of the ureters and upper tracts and a very large bladder, with a patent urachus or urachal diverticulum [megalourethra] # Limb abnormalities and scoliosis [50% of cases] # if NO obstruction>> the GOAL of Tx is the prevention of UTI with antibiotic prophylaxis. # if YES obstruction>> temporary drainage procedures: Vesicostomy

Folic Acid Deficiency

# Malnutrition is The MC cause of Folate Deficiency in Older Children # Goat's milk is folate deficient [give folic acid] # Drugs causing Impair Folic acid Absorption: Phenytoin, Primidone, Phenobarbital and Alcohol # Drugs causing Impair Folic Acid Metabolism: Methotrexate, Pyrimethamine and Trimethoprim [ Tx: Folinic Acid] #Neutropenia and thrombocytopenia [ in severe] #hypersegmented nuclei # Folic acid <3ng

Meconium aspiration syndrome (MAS)

# Meconium-Stained Amniotic Fluid: 10-15% of Births # Meconium-Aspiration Syndrome: 5% of those # 30% required Mechanical Ventilation # Risk Factors: Fetal Distress and Hypoxia # 1st birth>>Aspiration>>Small Airway Obstruction>> Respiratory Distress the 1st hrs>> sxs: Tachypnea, Retractions, Grunting, and Cyanosis # CXR: Patchy Infiltrates, Coarse Streaking of both lung fields, ↑AP Diameter, and Flattening of the Diaphragm # Normal CXR in Infant with Severe Hypoxemia and NO Cardiac Malformation >> Dx: Pulmonary Hypertension # Complication: Persistent Pulmonary HTN

Treatment of Epiglottitis:

# Medical emergency - Artificial Airway!!! # Cultures: blood and epiglottis . # CSF fluid after the airway is stabilized # Ceftriaxone, Cefepime, or Meropenem parenterally # Racemic Epi and Corticosteroids are INeffective !!! # Indications for Rifampin prophylaxis: 1)All household members include a child within the home who is younger than 4 yr of age and incompletely immunized 2)Younger than 1yr of age and has NOT completed the primary vaccination series 3)Immunocompromised

Menstrual Irregularities

# Menorrhagia: Regularly Bleeding that was excessive in Amount or Duration # Metrorrhagia: Irregular Bleeding between periods. # Abnormal uterine bleeding (AUB): Uterine Bleeding that is Abnormal in Regularity, Volume, Frequency, or Duration>> Bleeding as Heavy menstrual bleeding, or intermenstrual bleeding. # In the early Post-Menarcheal years [within 2yr of menarche] the MC cause of AUB in adolescents is Anovulation caused by Immaturity of the Hypothalamic-Pituitary-Ovarian Axis

Pearson Syndrome

# Mitochondrial DNA mutation # Severe Macrocytic Anemia and Thrombocytopenia # Bone marrow: vacuoles in Erythroid and Myeloid precursors as well as Ringed Sideroblasts. # Refractory Sideroblastic Anemia, Cytoplasmic Vacuolization of Bone Marrow precursors, Metabolic Acidosis, Exocrine Pancreatic Insufficiency and Diagnostic Mitochondrial DNA mutation *Severe Anemia requiring Transfusion from birth to 1 yr # ↑HbF # severe bone marrow failure and pancreatic insufficiency contributes to growth failure

Aortic stenosis murmur

# More frequent in males 3:1 # Mild to moderate valvular aortic stenosis is usually associated with an early systolic ejection click # best heard at the apex and left sternal edge # If the stenosis is severe, the 1st heart sound [S1] may be diminished !!!

Tonsillectomy

# Most Commonly performed for Recurrent or Chronic Pharyngotonsillitis #↓↓ number of Infections and the symptoms of Chronic Tonsillitis such as Halitosis, Persistent or Recurrent Sore Throats, and Recurrent Cervical Adenitis # Curative Tx for: Cryptic Tonsillitis

Transient Synovitis

# Most prevalent Age: 3-8yr [mean age: 6yr] # 70% Nonspecific URTI 7-14 days before sxs onset # sxs: Afebrile [<38c], Limp, Pain in: groin, anterior thigh, or knee, which may be referred from the hip. # These children are usually able to bear weight on the affected limb and typically walk with an Antalgic gait with the foot Externally rotated. * The Hip is NOT held in some position [ unless effusion] #Dx: clinical ! all Labs: NORMAL !!! # The Most important condition to exclude before confirming DX of toxic synovitis is Septic Arthritis!!! High fever, refusal to walk and ↑↑ESR, CRP &WBC >>Dx of Septic Arthritis>> Ultrasound-guided Aspiration # Tx: Anti-inflammatory, Analgesics and Bed rest

Congenital Mitral Insufficiency

# Mostly in combination with AV septal defect!!! # Pt's with: Dilated cardiomyopathy Coarctation of the aorta VSD Corrected transposition of the great vessels Anomalous origin of the left coronary artery from the pulmonary artery Marfan syndrome

Noonan Syndrome

# Normal karyotypes BUT phenotypic of Turner syndrome # Autosomal Dominant [20% cases] # sxs: short stature, webbing of the neck, pectus carinatum or pectus excavatum, cubitus valgus, right sided congenital heart disease, characteristic facies. Hypertelorism [increase distance between the eyes], Epicanthus, downward-slanting palpebral fissures, Ptosis, Micrognathia, Low posterior hairline, Low-set Ears, shield chest and ear abnormalities are Common. # Affect BOTH sexes #Tx: human growth hormone

Foreign body in Respiratory tact

# Nuts the MC bronchial foreign body # 3 stages of symptoms: 1. Initial event: Violent paroxysms of coughing, choking, gagging, and possibly airway obstruction occur immediately when the foreign body is aspirated. 2. Asymptomatic interval: The foreign body becomes lodged, reflexes fatigue, and the immediate irritating symptoms subside. This stage is most treacherous and accounts for a large percentage of delayed diagnoses and overlooked foreign bodies. It is during this 2nd stage, when the child is first seen, that the possibility of a foreign-body aspiration is minimized, the physician being reassured by the absence of symptoms that no foreign body is present. 3. Complications: Obstruction, erosion, or infection develops to direct attention again to the presence of a foreign body. In this 3rd stage, complications include fever, cough, hemoptysis, pneumonia, and atelectasis. # Dx: Choking or Coughing episodes accompanied by NEW onset Wheezing are highly suggestive !!! **PA and lateral Chest x-ray are Standard in the assessment of infants and children suspected of having Aspirated Foreign Object!

Familial gonadotropin-independent puberty

# ONLY in males !!! # mutation of the LH receptor # signs: virilization and penile enlargement with only a small and disproportionate increase in testicular volume.

Total anomalous pulmonary venous return (TAPVR)

# Obstruction to pulmonary venous return # "Fluffy-venous congestion"- [ "snowman"]

Transient Hyperthyroidism

# Occur at Birth in Infants of Mothers with or cured Hyperthyroidism (e.g., Graves disease with Positive TSH receptor- Stimulating Antibodies)

Respiratory Distress Syndrome (Hyaline Membrane Disease)

# Occur in Premature Infants! # Related: Gestational Age[GA] and Birthweight. # Infants <28 wk GA [60-80%], 32-36 wk GA[15-30%] # Risk Factors: Maternal Diabetes, Multiple Births, Cesarean Delivery, Asphyxia, Cold stress, and a Maternal Hx of Previously affected infants. # The Risk Reduced in: Pregnancies with Chronic or Pregnancy-with HTN, Maternal Heroin use, Prolonged Rupture Of Membranes[PROM] and Antenatal Corticosteroid Prophylaxis. # sxs usually within min after Birth: Tachypnea, Expiratory Grunting, Intercostal and Subcostal Retractions, Nasal Flaring, and Cyanosis # CXR: Low Lung Volumes, Diffuse, Fine Reticular Granularity of the Parenchyma (Ground-Glass appearance), and Air Bronchograms # Tx: Nasal CPAP Assisted ventilation and Surfactant Mechanical Ventilation [lung failure/persistent apnea] # Prevention: Betamethasone and Dexamethasone

Pallegra [ V.B3 - niacin deficiency disease]

# Occur in ppl who corn (poor source of tryptophan) is the major foodstuff # Early sxs: anorexia, lassitude, weakness, irritability, abdominal pain, burning sensation, numbness, and dizziness. After a long period of deficiency, the CLASIC TRIAD: Dermatitis, Diarrhea and Dementia appears

Acute Cerebellar Ataxia

# Occurs at age 1-3yr # Diagnosis of exclusion # Occur in association to: Infection [VZV], Metabolic, Toxin Ingestion, Hydrocephalus, Cerebellar Lesions, MS and Neuroblastoma # Following VZV, coxsackievirus, or echovirus infection # Unable to stand or sit, vomiting, horizontal Nystagmus [50% of cases], and if the child is able to speak>> Dysarthria may be impressive *ataxia, nystagmus, and dysarthria #NO fever and nuchal rigidity due to the lack of meningeal involvement !!! # Fredrich-Ataxia: Triple gene expansion # Ataxia Telangiectasia - skin Both of above↑ chronic # ingestion toxin: barbiturate phenytoin alcohol # agenesis of corpus colosseum - diagnosis CT chronic

Congenital Hypothyroidism

# One of The MC Preventable causes of Developmental Disability #Most cases [85%] due to: Thyroid Dysgenesis [aplasia] # No sxs at birth! # Femal:Male - 2:1 # Birthweight and length are normal # ↑↑Head size # Anterior & Posterior fontanels are open widely [1st clue] # Prolonged Physiologic[Unconjugated] Jaundice [earliest sign] # Feeding difficulties: sluggishness, lack of interest, somnolence, and choking spells [ 1st mon of life] # Respiratory difficulties, partly caused by the large tongue, include: apneic episodes, noisy respirations, and nasal obstruction. [Some may develop ARDS] # Cry little, Sleep much, Poor appetites, and are generally Sluggish. # Constipation that does not usually respond to Tx # Large abdomen & Umbilical Hernia is usually present. # Temperature is subnormal<35°C (95°F), and the skin: extremities, may be cold and mottled. # Edema of the genitals and extremities may be present # Pulse is slow, and heart murmurs, cardiomegaly, and asymptomatic pericardial effusion are Common # Macrocytic anemia is often present and is refractory to treatment with hematinics # Severe Chronic Hypothyroidism: Constipation, Prolonged Jaundice, Goiter, Lethargy, Umbilical Hernia, Macroglossia, Hypotonia with Delayed Reflexes, Mottled Skin or Cold Extremities # Down Syndrome Pt's have Higher Incidence! # 10% have anomaly >>Cardiac anomalies MC!!! # Tx: Levothyroxine

Beckwith-Wiedemann syndrome

# Overgrowth syndrome # Excess insulin-like growth factor 2 (IGF-2) # Sxs: Macrosomia, Macroglossia, Hemihypertrophy, Omphalocele and Renal Anomalies * Eye Proptosis with Periorbital Fullness, Mid-glabellar Capillary Malformation (nevus flammeus), Earlobe Creases, HSM and Nephromegaly # Hypoglycemia with Hyperinsulinemia[50% of cases] # ↑↑risk of Wilms tumor, Hepatoblastoma, Rhabdomyosarcoma, Neuroblastoma and Adrenal Cortical Carcinoma # α-fetoprotein every 3 mon Until age 8 yr # Pt's with Isolated Omphalocele->Survival rate is >90%

Hand-Foot-and-Mouth Disease - Coxsackievirus A16

# Painful Vesicles on the tongue, buccal mucosa, posterior pharynx, palate, gingiva, and/or lips # Onychomadesis (nail shedding)-Coxsackievirus A6

Neonatal hemochromatosis

# Rapid progressive disease # ↑ iron deposition in: liver, heart, endocrine organs. without ↑ iron stores in reticuloendothelial system # Pt's have multiorgan failure and short survival # Familial case - same family common *Lab: ↑ferritin hyperbilirubinemia hypoglycemia hypoalbuminemia profound hypoprothrombinemia *Dx confirmed: Buccal mucosa biopsy OR MRI> extra-hepatic siderosis

Transient neonatal diabetes mellitus (TNDM)

# Rare! #presents on day 1 of life # Polyuria, Dehydration, Loss of Weight or Acidosis in Infants who are Small for Gestational Age. # The MC cause (70%) is Disruption of the Imprinted locus at chromosome 6q24

Infectious Upper Airway Obstruction

# Parainfluenza viruses [75% of cases] # Most Pt's with croup: age 3mon - 5yr 1)Croup (Laryngotracheobronchitis): *The MC form of acute upper respiratory obstruction *Most Pt's have URTI: rhinorrhea, pharyngitis, mild cough, and low-grade fever for 1-3 days before sxs of upper airway obstruction appear *Later: barking cough, hoarseness, fever, inspiratory stridor, worse at night, prefer to be upright *Other family member can have sxs of laryngitis *Croup: clinical Dx, does NOT required neck xray! *Neck X-ray: subglottic narrowing [steeple sign] of croup on PA view [ mainly to distinguish between severe laryngotracheobronchitis and epiglottitis] 2)Acute Epiglottitis (Supraglottitis): *Rapidly progressing respiratory obstruction *Respiratory distress can be 1st sxs or sore throat and fever>> in few hr>>Pt's look toxic with difficulties in swallowing and breathing, drooling, hyperextended neck , Tripod position *Stridor- late sign of complete obstruction *NO barking cough *NO other family member ill *Dx: laryngoscopy: cherry red, swollen epiglottis Lateral neck X-ray [thumb sign] 3)Spasmodic Croup: *Allergic reaction to virus rather than Infection *Age 1-3yr *Similar to Laryngotracheobronchitis BUT NO history of infection / fever /family member ill *Occur at night >> awaken with: barking, metallic cough, noisy inspiration, and respiratory distress # Bacterial tracheitis is the Most important DD # Tx: airway management and treat hypoxia *Corticosteroids *Nebulized racemic epinephrine- mod -severe croup

Atelectasis

# Perfused BUT NOT Ventilated Alveoli>> Hypoxia and Hypercapnia! Decreased lung compliance Small Tidal Volumes Increased Physiologic Dead Space Insufficient Alveolar Ventilation # Combination of: Hypercapnia, Hypoxia and Acidosis >> Pulmonary Arterial Vasoconstriction>> with increased R>L shunting through the Foramen Ovale and Ductus Arteriosus and within the lung itself

Diabetes Insipidus (DI)

# Polydipsia and Polyuria # Dx: Serum osmolality >300 mOsm/kg Urine osmolality <300 mOsm/kg # If Pt's Serum Osmolality <300 BUT >270-> And Pathologic Polyuria and Polydipsia->>Water Deprivation Test is indicated to establish the diagnosis of DI and to Differentiate Central from Nephrogenic causes 1) Central DI: * 10% etiology: Idiopathic * Mutation in Vasopressin Gene [AVP] * Wolfram Syndrome: CDI, DM, Optic Atrophy and Deafness * optic nerve hypoplasia syndrome * Empty sella syndrome * Trauma and Neurosurgery [ Common Causes] * Germinomas and Pinealomas [MC Primary Brain Tumor cause DI] * Langerhans Cell Histiocytosis and Lymphocytic Hypophysitis [MC infiltrative Types causing CDI] * Meningitis and CMV [ Infectious causing DI] * Drugs: Ethanol, Phenytoin, Opiate Antagonists, Halothane and α-Adrenergic Agents 2) Nephrogenic DI: #Genetic: After Weaning or with Longer Periods of Nighttime Sleep * Fever, Vomiting, Dehydration and FTT * Nonobstructive Hydronephrosis, Hydroureter and Megabladder # Acquired: Hypercalcemia or Hypokalemia, Lithium, Demeclocycline, Foscarnet, Clozapine, Amphotericin, Methicillin and Rifampin * ↓Protein or Sodium intake or Excessive Water Intake # Tx of CDI: Neonate and young Infants: Fluid Therapy~ 3L/24hr Older Children: DDAVP [Desmopressin] Nasal Spray *Following Neurosurgery: Synthetic Aqueous Vasopressin (Pitressin) # Tx of NDI: Thiazide Diuretics, Indomethacin and Amiloride * High-dose DDAVP with Indomethacin for: Genetic Defects in V2 receptor

Sickle Cell Nephropathy

# Polyuria caused by Urinary Concentrating Defect, Renal Tubular Acidosis and Proteinuria # 30% of Pt's with Sickle Cell Disease develop Proteinuria # Tx: ACEi or ARBi - ↓↓Proteinuria Desmopressin - ↓↓Gross Hematuria Hydroxyurea - ↓↓Sickle Cell Disease

Todd Paralysis

# Postictal State: During the slow, gradual recovery of consciousness and cognition after focal [motor] seizure >>Transient [<48hr] weakness/paralysis of limb can appear [Hemiparesis]

Hurler Syndrome (MPS I)

# Premature Death by age 10yr # Normal at birth! # Early sxs: Inguinal Hernias and Hearing Loss. # Dx: at 6-24 mon, Hepatosplenomegaly, Coarse facial features, Glaucoma, Corneal Clouding, Large Tongue, Enlarged Head Circumference, Joint Stiffness, Short Stature, Skeletal Dysplasia and Cardiomyopathy[<1 yr] # Most Pt's have recurren URTI ear, Noisy Breathing, and Persistent Copious Nasal Discharge # Radiographs: Skeletal Dysplasia known as: Dysostosis Multiplex # The earliest radiographic signs: Thick Ribs

Autosomal Recessive Polycystic Kidney Disease [a.k.a ARPKD-congenital hepatic fibrosis]

# Prenatal U/S: Oligohydramnios and B/L Enlarged Kidneys # sxs: bilateral flank masses, respiratory distress and spontaneous pneumothorax in the neonatal period *Severe HTN - 1st few weeks of life # Perinatal demise (25-30%) # oligohydramnios complex (Potter syndrome): low-set ears, micrognathia, flattened nose, limb-positioning defects, and intrauterine growth restriction, may be present at death from pulmonary hypoplasia. Renal function is usually impaired but may be initially normal in 20-30% of patients. Approximately 50% of patients with a neonatal-perinatal presentation develop end-stage renal disease (ESRD) by age 10 yr Hepatic fibrosis manifests as portal hypertension, hepatosplenomegaly, gastroesophageal varices, episodes of ascending cholangitis, prominent cutaneous periumbilical veins, reversal of portal vein flow, and thrombocytopenia. Congenital hepatic fibrosis may manifest with cholangiodysplastic changes or a frank Caroli type with marked intrahepatic bile duct dilation # Dx: bilateral palpable flank masses in an infant with pulmonary hypoplasia, oligohydramnios, and hypertension and the absence of renal cysts by sonography of the parents *confirmed by genetic testing #Tx: supportive/ Aggressive ventilatory support

Persistent Pulmonary Hypertension of the Newborn (PPHN)

# Present in Term and Postterm Infants # Risk Factors: Birth Asphyxia, MAS, Early-onset Sepsis, RDS, Hypoglycemia, Polycythemia, Maternal use NSAID's with in utero Constriction of the Ductus Arteriosus, Maternal Late trimester use SSRI, and Pulmonary Hypoplasia [ caused by Diaphragmatic Hernia, Amniotic Fluid Leak, Oligohydramnios, or Pleural Effusions] # Hypoxemia from R>L shunting and normal or elevated PaCO2 are present! # sxs: 1st 12hr after birth> Cyanosis, Grunting, Flaring, Retractions, Tachycardia, and Shock # Dx: Echo with Doppler # Tx: Sedation, Inotropic [Dopamin] and Inhaled NO * Use of iNO ↓↓the need for ECMO support by 40% # Complication: Hypoxic-Ischemic Encephalopathy

Endocardial Fibroelastosis (EFE)

# Primary : Mumps virus # Secondary: Left side obstructive lesions: aortic stenosis or atresia, hypoplastic left heart syndrome, or coarctation of the aorta # opaque, white, fibroelastic thickening on the endocardial surface of the ventricle >>systolic and/or diastolic dysfunction # surgery to remove it # Standard heart failure Tx, including transplantation

Varicella-zoster virus (VZV)

# Primary infection is varicella (chickenpox) # Reactivation is herpes zoster (shingles) # Fever, malaise, anorexia, headache, and mild abdominal pain may occur 24-48 hr before the rash appears! # Neonate: Limb hypoplasia, Cicatricial skin lesions, Ocular abnormalities and Cortical atrophy #Dx: Clinical picture. Leukopenia is typical during the 1st 72 hr after onset of rash>>followed by lymphocytosis>>liver function tests are also usually (75%) mildly elevated #Secondary bacterial infections of the skin: caused by group A Strep and S. aureus [5% of cases]. >>range from impetigo to cellulitis, lymphadenitis, and subcutaneous abscesses. >>An early sign is erythema of the base of a new vesicle. >>Exacerbation of fever 3-4 days after the initial exanthem also means: secondary bacterial infection. #Smoking is a risk factor for severe pneumonia complicating varicella # Rare,but can cause: cerebellar ataxia and pneumonia #vaccine: 2 shots first: 12-15mon of age second: 4-6yr of age # The Recommendations for use of human varicella-zoster immunoglobulin (VZIG) differ based on when the infant is exposed to varicella. * Newborns whose mothers develop varicella during the period of 5 days before to 2 days after delivery should receive VZIG as soon as possible after birth! [BUT still can occur in 50% milder] * All Premature infants born < 28 wk of gestation to a mother with Active Varicella-> VZIG

Autoimmune Hemolytic Anemia (AIHA) - COLD antibodies

# Primary: 2nd to M.pneumoniae and EBV infections # Secondary: Lymphoproliferative disorders # IgM class and require complement for hemolytic activity. Temp' <37 # Anti-i-antibodies # Spontaneous RBC agglutination and RBC aggregates >> ↑↑↑ MCV and reticulocytes # Only complement, NOT IgM, is detected on RBCs because the IgM is removed during the washing steps of the direct antiglobulin (Coombs) test. Hemoglobinemia and Hemoglobinuria # Tx: self-limited - Pt's should AVOID exposure to cold and should be treated for any underlying disease! -Rituximab -RBC transfusion is indicated based on symptoms and severity of anemia. -Immunosuppression and Plasmapheresis -Glucocorticoids is NOT effective !!! -Splenectomy is NOT effective !!!

Vitamin K Deficiency

# Prolonged PT and PTT # ↓↓Prothrombin (II), factors VII, IX, and X # Bleeding occur between 2nd-7th day of life # Early-onset vitamin K deficiency bleeding: 1st 24hr of life. due to mother's drugs: Warfarin, Phenytoin, Phenobarbital or Cholesterol-Lowering Medication * Tx: IV vitamin K 1-2mg [ still bleeding> FFP 10mg] # Late-onset vitamin K deficiency bleeding: after 2 wk of life. due to: CF, Neonatal Hepatitis or Biliary Atresia * Tx: IM Phytonadione

Nephrotic Syndrome

# Proteinuria >3.5 g/24 hr or Urine protein:creatinine ratio>2 # Triad: Hypoalbuminemia (≤2.5 g/dL) Edema [The MC sxs] Hyperlipidemia (cholesterol > 200 mg/dL) *↑Cholesterol, TAG, LDL and VLDL [normal or ↓HDL] *Anti-lipids in children: Uncommon # MC cause of death: Infections # Glomerular lesions [Primary]: Minimal Change Disease (The MC) Focal Segmental Glomerulosclerosis [FSGS] Membranoproliferative Glomerulonephritis [MPGN] C3 Glomerulopathy Membranous Nephropathy * These etiologies have different age distributions # Secondary to Systemic Diseases: SLE HSP Malignancy (Lymphoma and Leukemia) Infections (Hepatitis, HIV, and Malaria) # Due to loss of Ig -> ↑risk for infection with Encapsulated bacteria: Pneumococcal disease # Spontaneous Bacterial Peritonitis [SBP- Peritoneal leukocyte counts > 250 cells]: Fever, Abdominal Pain and Peritoneal Signs *Pneumococcus: Most frequent cause of Peritonitis # Tx for Edema: Diuretics, Sodium restriction and IV Albumin #Hypercoagulability-> DVT can occur in: Cerebral Venous Sinus, Renal Vein and Pulmonary Veins

Fanconi Syndrome

# Proximal Tubule transport disorder # Tetracycline side effect # signs: Hypophosphatemia Hypocalcemia Hyperchloremia Metabolic acidosis # the MC inherited cause in children is Cystinosis > cell dysfunction . other causes: tyrosinemia and glycogen storage disorder # Ifosfamide and Valproate: can cause Fanconi # sxs: FTT, Fever , Constipation , Polydipsia # Tx: Phosphate supplementation

Goodpasture Disease

# Pulmonary Hemorrhage, Rapidly Progressive Glomerulonephritis, and Elevated Anti-glomerular basement membrane Antibody titers [anti-type IV collagen in GBM] # RARE! # hemoptysis, acute glomerulonephritis with hematuria, nephritic urinary sediment with cellular casts, proteinuria, and hypertension # No Systemic sxs [ Fever might present] # C3 complement : Normal! # ↑ANCA [10-40% of cases] # Dx: Anti-GBM Antibody and Kidney Biopsy # Tx: Plasmapheresis, High-dose IV Methylprednisolone and Cyclophosphamide. *if cyclophosphamide toxicity-> Rituximab # After Remission-> Maintenance Tx with lower doses of Prednisone and Azathioprine (or Mycophenolate mofetil) is continued for 6-9 mon! # Renal failure Develops within day-weeks

Conjunctivitis-Associated Otitis Media

# Purulent and Erythematous conjunctivitis with an ipsilateral OM >> nontypeable H. influenzae # multiple family members and affects young children and infants.

Myocarditis

# Range from asxs to Nonspecific Generalized illness to Acute Cardiogenic Shock and Sudden Death. # sxs: Fever, Respiratory Distress, Tachycardia, Hypotension, Gallop Rhythm, Cardiac Murmur, Chest Discomfort, Palpitations, Easy Fatigability and Syncope # Cardiac Findings: overactive precordial impulse, gallop rhythm, and an apical systolic murmur of mitral insufficiency. #In Pt's with associated pericardial disease>>rub #Hepatic enlargement, peripheral edema, and pulmonary findings: wheezes or rales may be present in Pt's with decompensated heart failure. # Dx: Cardiac MRI is a standard imaging modality other: ** ECG: Nonspecific changes: sinus tachycardia, atrial or ventricular arrhythmias, heart block, diminished QRS voltages, and nonspecific ST and T-wave changes, often suggestive of acute ischemia. ** CXR: cardiomegaly, pulmonary vascular prominence, overt pulmonary edema, or pleural effusions. ** Echo: ventricular systolic function, cardiac chamber enlargement, mitral insufficiency, and pericardial infusion. # Tx: Acute: inotropic- milrinone [caution arrhythmia] IVIG Corticosteroids

Transverse Myelitis [TM]

# Rapid Development Both Motor and Sensory Deficits # Age <5yr and >10yr # Followed by illness # Pain in the Neck or Back # Urinary Retention -Common and Early sxs # Numbness, Anesthesia, Ataxia, Areflexia and Motor Weakness [distal to the lesion] *Paralysis begins: Flaccidity (paraparesis, tetraparesis), BUT over few wk> Spasticity: Hyperreflexia and Clonus * Rarely U/L [ if U/L-> Hemicord lesion with MS] # Dx: MRI-> then-> LP * CSF: ↑mononuclear, protein, inflammatory cells # Tx: High-dose Steroids: Methylprednisolone * if Not Responsive: IVIG and Plasma Exchange # Complication: Bladder Dysfunction

Parvoviruses B19 [Erythema Infectiosum or Fifth disease]

# Rash of Erythema Infectiosum and Transient Aplastic Crisis> School-Age Children (70% between 5-15 yr) #Slapped-Cheek, Lacy, Reticulated appearance # Arthritis and Arthralgia in older Pt's # B19V-induced RBC Aplasia or Transient Aplastic Crisis->In: Chronic Hemolysis, Sickle Cell disease, Thalassemia, Hereditary Spherocytosis, and pyruvate kinase def. [arrest of Erythropoiesis and Reticulocytopenia] # Immunocompromised Pt's-> can have Chronic Anemia # Infants Pt's: Anemia, high-output Cardiac Failure, Fetal Hydrops Fetalis and Bone Lesions # Papularpurpuric Gloves&Socks Syndrome (PPGSS) # Tx: self-limited IVIG for Immunocompromised for Fetuses with Anemia and Hydrops: Intrauterine RBC transfusions # Any child with Sickle Cell Disease, Fever and Reticulocytopenia should be presumed to have B19

anaphylactoid purpura (HSP)

# Rash: extensor of extremities # edema, arthralgia and arthritis #colicky abdominal pain with GI bleeding # acute scrotal pain and kidney problems range from: microscopic hematuria to renal failure

Transient Monoarticular Synovitis (Toxic Synovitis)

# Reactive Arthritis # One of the MC causes of hip pain in young children # Can occur in any age BUT mostly: 3-8yr old # 70% of cases have URTI 7-14days prior sxs! # sxs: Pain in the groin, anterior thigh, or knee, which may be referred from the hip and afebrile /low grade fever <38c # Able to bear weight on the affected limb and walk with an Antalgic gait with the foot externally rotated. # The hip is NOT held flexed, abducted, or laterally rotated unless a significant Effusion # Dx: Clinical!!! * Lab: Normal [ sometimes ESR] * Radiography: Normal * U/S: small joint effusion [preferred to x-rays] #The Most important condition to exclude before confirming Dx of Toxic synovitis is Septic arthritis #Tx: activity limitation and relief of weight bearing Anti-inflammatory agents and Analgesics

Complex vocal tics

# Recognizable word or utterances (e.g., partial words [syllables] # Words out of context, coprolalia [obscenities or slurs] # Palilalia [repeating one's own sounds or words] # Echolalia [repeating the last heard word or phrase]

Rhus dermatitis (poison ivy, poison sumac, poison oak)

# Response to Allergen Urushiol # The MC allergic contact dermatitis # Linear streaks of vesicles # Spontaneous resolution occurs in 1-3 wk # The MC complication: Secondary Bacterial Infection # Exposure avoidance and thorough washing after exposure are the mainstays for Prevention

Patent Ductus Arteriosus (PDA)

# Risk Factors: Maternal Rubella, Prematurity # Usually it's asxs >> Usually diagnose due to Murmur * Bounding Peripheral Arterial Pulses and Wide Pulse Pressure * Thrill: maximal in the 2nd left interspace * Continuous Murmur: "Machinery-like" * Pt's with Large L>R shunt: low-pitched Mitral Mid-Diastolic murmur may be audible at the Apex * ECG: LV or biventricular hypertrophy # Manifestations of PDA: 1) Hyperdynamic Precordium, Bounding Pulses, Wide Pulse Pressure and Machine-like Continuous Murmur 2) CXR: Cardiomegaly &↑Pulmonary Vascular Markings 3) Hepatomegaly 4) ↑↑Oxygen Dependence 5) CO2 Retention 6) Renal Failure # Confirm Dx: Echo and Doppler [L>R or bidi] # Tx: Transcatheter PDA closure is routinely performed in the Cardiac Catheterization Laboratory # Prophylactic Indomethacin or Ibuprofen given over the 1st 72 hr of age to Preterm Infants with Birthweight <1,000 g # Contraindication for Indomethacin: 1) Thrombocytopenia (<50,000 platelets ) 2) Active Hemorrhage (including severe IVH) 3) NEC or isolated Intestinal Perforation 4) ↑↑Plasma Creatinine (>1.8 mg/dL) 5) Oliguria (urine output <1 mL/kg/hr)

Acute Adrenal Hemorrhage

# Risk Factors: Vaginal Delivery, Macrosomia and Fetal Acidemia # sxs: Mild with Spontaneous Regression # In neonates with B/L Adrenal Hemorrhage: Evaluation of Cortisol> (high-dose ACTH stimulation test) and if Insufficient> Tx: Glucocorticoids and Mineralocorticoids

Acute Tubular Necrosis (ATN)

# Risk Factors: prolonged renal ischemia, sepsis, shock, hypovolemia, and nephrotoxic medications # The MC cause of intrinsic Acute Kidney Injury (AKI) # Accumulation of fluid, ↑↑BUN and Creatinine and ↓↓ Urine Output # Mainly Asymptomatic # Signs: edema, HTN and evidence of Heart Failure. Children with Intravascular volume depletion exhibit: Tachycardia, Hypotension, Decreased skin turgor and Dry Mucous Membranes. # Dx: Voided Urine: Positive Blood and Protein and Microscopy: RBC and broad, Muddy-Brown granular Casts. * Low Urine Specific Gravity and a High Urinary Sodium and Fractional Excretion of Sodium[FeNa] * Heme-positive Urine withOUT RBC-> suspicion for Hemolysis or Rhabdomyolysis. # The Hallmark: Progressive ↑Serum Creatinine & BUN # mild-to-moderate Anemia->due to dilution and ↓Erythropoiesis. # High Anion Gap Metabolic Acidosis # Lab: Hyponatremia [↓Na] Hypocalcemia [↓Ca] Hypomagnesemia [↓Mg] Hyperkalemia [↑K] Hyperphosphatemia [↑Po3] # Tx: IV hydration STOP THE Nephrotoxic DRUG # Indications for Dialysis: *Fluid overload Unresponsive to Diuretics *Hyperkalemia Unresponsive to medical Tx *Symptomatic acid-base Imbalances *Refractory HTN

Severe Sepsis

# SIRS+ Suspected infection +Oligouria +Prolonged Capillary Refill # 1st order: Blood Test [ if LDH>4 -> ASAP correct it] # 2nd order: Blood Culture [X2], IV empirical broad Antibiotics and 30ml/kg Crystalloid

Complex motor tics

# Sequentially and/or simultaneously produced, relatively coordinated movements that can seem purposeful # Example: brushing back one's hair bangs, tapping the foot, imitating someone else's movement [echopraxia], or making a sexual or obscene gesture [copropraxia]

Simple vocal tics

# Solitary, meaningless sounds and noises # Example: throat clearing, sniffing, coughing

Septic Arthritis

# Staph aureus is the MC cause of bacterial arthritis in all age groups ! [MRSA >25%] # S. pneumoniae is most likely in the 1st 2 yr of life, BUT its frequency has declined since the introduction of the pneumococcal conjugate vaccines # In sexually active adolescents, gonococcus is a common cause of septic arthritis and tenosynovitis, usually of small joints or as a monoarticular infection of a large joint (knee) # N.meningitidis can cause either a septic arthritis that occurs in the first few days of illness or a reactive arthritis that is typically seen several days after antibiotics have been initiated. # Monoarticular.[ knee35% , hip25%, ankle&elbow10%] # The signs and symptoms of septic arthritis depend on the age of the Pt's # Neonates>> Pseudoparalysis or pain which limits voluntary movement of the affected extremity (e.g., diaper changes) # Older infants and children: fever and pain, with localizing signs such as swelling, erythema, and warmth of the affected joint. With involvement of joints of the pelvis and lower extremities, limp or refusal to walk. # Erythema and edema of the skin and soft tissue overlying the site of infection are seen earlier in septic arthritis than in osteomyelitis # Dx: ↑↑↑WBC, CRP, ESR **Blood cultures should be performed in all cases of suspected septic arthritis but are positive in 20%!!! **Aspiration of the joint fluid>>To confirm the diagnosis **Joint fluid white blood cell counts >50,000 cells/mm3 suggest bacterial infection as the most likely etiology **When the results of aspiration and culture are NOT suggestive and clinical pictures yes >>>MRI # Radionuclide Imaging: although NOT routinely indicated-> is More Sensitive than plain radiographs. and is also useful for evaluating the Sacroiliac Joint! # Tx: 1) Neonates: Nafcillin or Oxacillin with Cefepime 2) MRSA: Vancomycin instead of Nafcillin / Oxacillin 3) Older infants and children: Nafcillin or Cefazolin 4) Immunocompromised Pt's: Vancomycin and Ceftazidime, Cefepime, or Piperacillin/ Tazobactam, with or without an Aminoglycoside 5) Infection of the hip>>surgical emergency 6) If fluid continues to accumulate after 4-5 days, arthrotomy or video-assisted arthroscopy.

Graves Disease

# The MC Cause of Hyperthyroidism # Earliest signs: Acceleration Growth and Neuropsychologic systems # Tremulousness, Headaches, Mood Disturbances, Behavioral swings, Difficulties with Sleep, Decrease in Attention span, Hyperactivity, Decline in school Performance [ADHD] # Lab: ↓TSH and ↑T4 & T3 Thyrotropin Receptor antibodies (TSHR-Abs) Thyroid-Stimulating Immunoglobulin (TSI) Thyrotropin-Binding Inhibitory Immunoglobulin (TBII) RAI uptake↑ # Tx: antithyroid drugs (ATDs) 1st line: Methimazole [Transient urticarial rashes Common S/E> give H-blockers] [Agranulocytosis] *The MC liver disease with Methimazole: Cholestatic Jaundice [Tx: discontinue] *Propylthiouracil: Not Recommended in children> Liver Failure * B-Blockers: Propranolol or Atenolol for: Tachycardia, Tremor, excessive Sweating, Lid Lag and Stare

Osteomyelitis

# Staphylococcus aureus The MC organism # Salmonella and Staph. aureus are the 2 MC causes of Osteomyelitis in children with sickle cell disease # Kingella kingae: The 2nd MC cause of Osteomyelitis in children younger than 4 yr of age # The median age: 6 yr # Infants: Pseudo-paralysis or pain with movement of the affected extremity (e.g., diaper changes). *50% of neonates don't have fever and not appear ill. # Older: pain, fever, and localizing signs: edema, erythema, and warmth. With involvement of the lower extremities: limp or refusal to walk -50% of Pt's * Focal tenderness over a long bone can be an important finding. * Local swelling and redness with osteomyelitis suggests spread of infection beyond the metaphysis and into the sub-periosteal space. # Some Pt's with Osteomyelitis due to S. aureus develop DVT >> Septic Pulmonary Emboli # Dx: Culture, MRI # Tx: 1) Neonates: Nafcillin or Oxacillin and Cefepime 2) Cefazolin or Nafcillin: the Agent of Choice for parenteral Tx of Osteomyelitis caused S. aureus and is the backbone of empirical Tx for Acute Hematogenous Osteomyelitis * Vancomycin for MRSA 3) Cefotaxime or Ceftriaxone for Pneumococcal isolates with resistance to penicillin and for Salmonella 4) Cefepime with Vancomycin or Clindamycin: for Pt's allergic to β-lactam drugs # Tx Chronic Osteomyelitis consists of surgical removal of: Sinus Tracts and Sequestrum. Antimicrobial Tx is continued for several months or longer until clinical and radiographic findings suggest that healing has occurred

Cephalohematoma

# Sub-periosteal hemorrhage>>limited to the surface of 1 cranial bone ( does NOT cross suture lines) * Subgaleal Hemorrhage cross suture lines!!! # Firm tense mass with a palpable rim localized over 1 area of the skull. # Most resorbed within 2 wk-3 mon, depending on their size. # If remain for years >> Widening of the diploic space # NO Tx!!! BUT Phototherapy for Hyperbilirubinemia !!

Legg-Calvé-Perthes Disease

# Temporary interruption of the blood supply to proximal femoral epiphysis>> Osteonecrosis and Femoral head Deformity. [ Unknown etiology] # sxs: MC- Limp of varying duration. [+/- pain] # Failure to recognize that thigh or knee pain in a child may be secondary to hip pathology can cause further delay in the diagnosis. # Antalgic gait - at the end of the day # Limited Hip- internal rotation and abduction # Leg-Length Discrepancy # Dx: AP and Lauenstein (frog-leg) lateral [X-ray], MRI and Arthrography # Herring lateral pillar classification [ for treatment and prognosis] # Pt's>9yr have poorer prognosis # Tx: Activity Limitation, Protected Weight bearing and NSAID's. * Non-surgical: Petrie Cast * Surgical: MC varus osteotomy of the proximal femur * After healing of the epiphysis: Valgus-producing proximal femoral Osteotomy

Thalassemia Major [a.k.a Cooley Anemia]

# Thalassemic Facies (maxilla hyperplasia, flat nasal bridge, frontal bossing) Pathologic Bone Fractures, Hepatosplenomegaly and Cachexia # Transfusion-induced hemosiderosis becomes the major clinical complication of transfusiondependent thalassemia [ Iron overload-> Hypothyroidism, Hypogonadotrophic Gonadism, Growth Hormone Deficiency, Hypoparathyroidism and DM # Hemosiderosis-induced morbidity can be Prevented by adequate Iron Chelation Therapy ->> If NOT receiving Iron Chelation Therapy-> die from Cardiac Failure or Cardiac Arrhythmias 2nd to Hemosiderosis # Lab: HbF on Hemoglobin Electrophoresis # Tx: 1) Transfusion Therapy 2) Quantitative liver iron: R2 or R2 MRI is The Best Indicator of total body iron stores 3) Chelation Therapy [Deferoxamine]: after 1 yr of transfusion therapy, serum ferritin >1,000 ng/ mL and/or liver iron concentration of >5,000 µg/g 4) Hematopoietic Stem Cell Transplantation 5) Splenectomy

Langerhans cell histiocytosis (LCH)

# The Hallmark: Birbeck Granule # Skeleton [80% of cases]- can be the only sxs! * Bone lesions - Mostly on the skull # Skin [50% of cases]- difficult-to-treat scaly, papular, seborrheic dermatitis of the scalp, diaper, axillary, or posterior auricular regions * exanthem may be petechial or hemorrhagic, even in the absence of thrombocytopenia # Lymphadenopathy [33% of cases] # Hepatosplenomegaly [20% of cases]-jaundice and ascites # Otitis Media [30-40% of cases] # Pulmonary Infiltrates [10% of cases] # Diabetes Insipidus

Aplastic Anemia

# The Hallmark: Peripheral Pancytopenia with Hypoplastic or Aplastic Bone Marrow *The severity related to: Degree of Myelosuppression. *Severe Aplastic Anemia: ≥2 cell components compromised (Absolute Neutrophil count <500/mm3 , Platelet count <20,000/mm3 , Reticulocyte count <1% after correction for Hematocrit) in Pt's whose Bone Marrow Biopsy material has <30% Cellularity # Pancytopenia ↑risks of: Cardiac Failure, Infection, Bleeding and Fatigue # Acquired Pancytopenia: Anemia, Leukopenia and Thrombocytopenia in ↑serum Cytokine # Flow Cytometric Analysis of Erythrocytes for CD55 and CD59 is The Most Sensitive Test # Tx: for Acquired Pancytopenia: allogeneic hematopoietic stem cell transplantation (HSCT) * Alemtuzumab

Herpes Simplex Virus

# The Hallmark: skin vesicles and shallow ulcers 1) Herpes Gingivostomatitis: * Children 6 mon to 5 yr of age * Painful vesicles in mouth, drooling, refusal to eat or drink, and fever 40c. * Tender submandibular, submaxillary, and cervical lymphadenopathy 2) Fever blisters (cold sores): * The MC manifestation of recurrent HSV-1 infections. * The MC site is the vermilion border of the lip 3) Genital HSV: * Urethritis and Dysuria severe enough to cause urinary retention and bilateral, tender inguinal and pelvic lymphadenopathy. *Women: watery vaginal discharge *Men: clear mucoid urethral discharge. *Significant local pain and systemic symptoms such as fever, headache, and myalgia are common. *Aseptic meningitis: 15% of cases *Most Transmissions: asymptomatic shedding episodes 4) CNS HSV: * The MC cause of recurrent aseptic meningitis (Mollaret meningitis). 5) Perinatal Infection HSV: *Acquired in utero, during the birth process, or during the neonatal period. *The risk for infection is higher in infants born to mothers with primary genital infection (>30%) *Intrauterine infection: skin vesicles or scarring, eye findings including chorioretinitis and keratoconjunctivitis, and microcephaly or hydranencephaly that are present at delivery! # Most sexual transmissions and maternal-neonatal transmissions of virus result from asymptomatic shedding episodes # The risk for infection is higher in infants born to mothers with Primary Genital Infection (>30%) than with Recurrent Genital Infection (<2%) # Dx: PCR [ also test of choice in CSF cases suspected HSV encephalitis] * Neonatal: culture and PCR [of both CSF and blood]

Chronic Lymphocytic Thyroiditis [Hashimoto Thyroiditis, Autoimmune Thyroiditis]

# The MC Cause of Thyroid Disease in children and adolescents -Goiter # also The MC cause of Acquired Hypothyroidism with or without Goiter # Female 4X , after age>6yr # The MC signs: Goiter and Growth Deceleration # Most Pt's: Euthyroid # Subclinical Hypothyroidism: ↑TSH and T4 Normal # Confirm Dx by checking: Serum Antibodies for Thyroglobulin and Thyroid Peroxidase [ TPO-abs ,Tg-abs] # Normal values Thyroid TSH: 0.5-4.5 Free T4: 10-20

Atopic Dermatitis (Eczema)

# The MC Chronic Relapsing Skin disease seen in Infancy and Childhood # Predispose for: Food Allergy, Allergic Rhinitis, and Asthma later in childhood [Atopic March] # 50% of cases have sxs during 1st yr of life # sxs: Pruritus [at Night!!!], Cutaneous Reactivity *Acute: Erythematous Papules #Chronic: Fibrotic Papule and Lichenification # Infants: face, scalp, and Extensor surfaces of the extremities [Usually No Diaper area] # Older children: Flexural folds of the extremities # Lab: Eosinophilia and Increased serum IgE # Identify the Allergen: Serum IgE or skin-prick Test # Dx: Pruritus, Eczematous Dermatitis [fits into a typical pattern of skin inflammation] and Chronic or Chronically Relapsing Course. # Tx: 1st line: Moisturizers *Topical Corticosteroids> for Acute Exacerbations * Topical Calcineurin Inhibitors> for ↓↓Skin Inflammation and No responsive to corticosteroids Pimecrolimus- mild-moderate Tacrolimus- moderate-severe 1st gen Cephalosporine- Cephalexin

Von Willebrand disease (VWD)

# The MC Inherited Bleeding Disorder # Female: Epistaxis, Easy Bruising and Menorrhagia * Type 1 [MC type 60-80%]: VWF:Ag <30 IU * Type 3: The Most Severe [sxs like to mild Hemophilia] # Tx: Type 1: Desmopressin Type 2&3: VWF-Containing Concentrate

Fragile X Syndrome

# The MC Inherited form of Intellectual Disability visible after puberty sxs: long face , large ears, prominent jaw , macro-orchidism , micropenis , hypotonia , repetitive speech , gaze avoidance , hands flapping , boys of all ages with developmental delay, autism . ** Abnormal behavior should test for fragile x syndrome 1) Male: Intellectual disability, Autistic behavior, post-pubertal Macroorchidism[40%], Hyperextensible finger joints, Long face, Large ears and Prominent jaw [obvious with age] # Mitral Valve Prolapse, Scoliosis, joint laxity, seizures (20%) and recurrent otitis media (60%) 2) Female: Intellectual disability and/or Learning disabilities # Dx: Expansion triplet [CGG] DNA inside FMR1 gene # Tx: Minocycline: short-term improvements in anxiety and mood.

Retinoblastoma

# The MC Intraocular Tumor in Children # Progresses to Metastatic disease and Death in >50% # Rosettes # Vitreous Seeding # Leukocoria: white pupillary reflex # Strabismus [usually 1st sign] * ↓Vision, Orbital Inflammation, Hyphema and Pupil Irregularity #ONLY 10% detected by routine screening # Tx: U/L: Enucleation B/L: Chemoreduction with Focal Therapy (Laser Photocoagulation or Cryotherapy) # Prognosis: 95% Cured

Hodgkin Lymphoma (HL)

# The MC Malignancy in Age 15-19 # 3rd MC malignancy in Age<15 * ↑Risk with EBV * Reed-Sternberg (RS) cell # sxs: Painless, Nontender, Firm, Rubbery, Cervical or Supraclavicular Lymphadenopathy and HSM # Signs of Airway Obstruction (Dyspnea, Hypoxia, Cough), Pleural or Pericardial Effusion, Hepatocellular Dysfunction or Bone Marrow Infiltration (Anemia, Neutropenia or Thrombocytopenia) # B symptoms: Fever, Weight Loss >10% total body weight over 6 mon and Night Sweats! # Dx: 1st Chest Radiography! then: Excisional Biopsy [LN] * Lugano classification # Tx: COPP (cyclophosphamide, vincristine [Oncovin], procarbazine, and prednisone) or ABVD (doxorubicin [Adriamycin], bleomycin, vinblastine, and dacarbazine) with Prednisone, Cyclophosphamide and Etoposide * Rituximab: anti-CD20 antibody * Brentuximab vedoti

Osteosarcoma

# The MC Primary Malignant Bone Tumor in Children and Adolescents # Initial Complaint Due to Sports Injury # sxs: Pain, Limp, Swelling, Limitation of Motion, Joint Effusion, Tenderness and Warmth. * CBC usually Normal! * Alkaline phosphatase [ALP] or Lactate Dehydrogenase [LDH] Elevated * "sunburst" Appearance # Chemotherapy: Methotrexate, Doxorubicin, Cisplatin # Prognostic Factor: Histologic Response to Chemotherapy

Wilms Tumor [a.k.a Nephroblastoma]

# The MC Primary Malignant Renal Tumor of Childhood # The 2nd MC Malignant Abdominal Tumor in Childhood after Neuroblastoma # The MC sites of metastases: Lungs, Regional LN and Liver # The MC initial Sign: Asymptomatic Abdominal Mass by parents while bathing or clothing *HTN [25%], Abdominal pain (40%), gross Painless Hematuria (18%) and constitutional sxs: Fever, Anorexia and Weight Loss are other findings at diagnosis # Pulmonary Embolism, Microcytic Anemia [Iron Deficiency] or Anemia of Chronic Disease, Polycythemia, ↑Platelet count and acquired Deficiency of Von Willebrand factor or factor VII Deficiency # Associated with: WAGR, Denys-Drash syndrome, Beckwith-Wiedemann syndrome, Fanconi anemia and Trisomy 18 # Dx: 1st: U/S with Doppler imaging of renal veins and the IVC # Tx: Partial Nephrectomy: In Pt's with B/L disease or those with U/L Wilms tumor and predisposing syndrome such as the Denys-Drash and WAGR syndromes, to minimize the Risk of Future Renal Failure.

Juvenile Idiopathic Arthritis (JIA)

# The MC Rheumatic Disease in children # The MC: Oligoarthritis (40-50%)>> Polyarthritis (25-30%)>> Systemic JIA (5-15%) # Arthritis: Intraarticular swelling or ≥2 of the following signs: Limitation in range of motion (ROM), Tenderness or Pain on Motion, and Warmth. * Initial sxs: morning stiffness with a limp #

Impetigo

# The MC Skin infection in Children * Bullous Impetigo: Always due to Staph aureus * Non-Bullous Impetigo: Staph aureus [MC] but also group A β-hemolytic streptococci (GABHS) # Non-Bullous Impetigo [70% of cases]: start on the Face or Extremities with trauma. Pruritus, Regional Adenopathy[90%] and Leukocytosis[50%]. # Bullous Impetigo: Infants and Children. Face and Diaper. Erythema and Regional Adenopathy ABSENT # "Honey-Crusted" # Complications: Rare! PSGN # Tx: Topical Mupirocin 10days [for localized staph aureus] * Cephalexin [ for strep or widespread staph]

Transient Erythroblastopenia of Childhood (TEC)

# The MC acquired red cell aplasia occurring in children # Age>1yr # Reticulocytopenia and Severe Normocytic Anemia # Neutropenia[20%], Thrombocytosis # MCV and HbF: Normal! # Corticosteroid Tx is of NO value!!!

Idiopathic Thrombocytopenic Purpura (Autoimmune) [ITP]

# The MC cause of Acute Onset of Thrombocytopenia in Healthy Child!!! # Recent Hx of Viral illness [50-60%] # Age: 1-4yr # Sudden Generalized Petechiae and Purpura # Bleeding from Gums and Mucous Membranes [particularly with Profound Thrombocytopenia (platelet count <10 × 109 /L] 1. No sxs 2. Mild sxs: Bruising and Petechiae, occasional minor Epistaxis, very little interference with daily living 3. Moderate sxs: Severe Skin and Mucosal lesions, Epistaxis and Menorrhagia 4. Severe sxs: Bleeding episodes—Menorrhagia, Epistaxis, Melena—requiring Transfusion or Hospitalization, sxs interfering seriously with the quality of life # Mucosal Bleeding: The Most Significant of predicting Severe Bleeding! # Complication: * <1%- Intra-Cranial Hemorrhage * 20% continue to Chronic ITP [Thrombocytopenia>1yr] # Indications for Bone Marrow Aspiration/Biopsy: -abnormal WBC count -abnormal Differential -Unexplained Anemia -History and physical examination findings suggestive of a Bone Marrow Failure Syndrome or Malignancy # ↑Megakaryocytes # Tx: Observation is Recommended for Children with Only Mild Bleeding sxs: Bruising or Petechiae * Single Dose IVIG or Short course Corticosteroids for Mucocutaneous Bleeding *IVIG-induced Aseptic Meningitis: after infusion: Headaches and Vomiting * Corticosteroid: Prednisone: for Short Course until a rise in Platelet count to >20 × 109 /L [safe level] # Platelet Transfusion in ITP is Usually Contraindicated unless life-threatening Bleeding is Present!!! # Splenectomy in ITP: 1) Older Child (≥4 yr) with Severe ITP >1 yr (chronic ITP) and whose sxs are Not Controlled with Therapy 2) Life-threatening Hemorrhage (ICH) complicates Acute ITP, if the Platelet count Cannot be corrected rapidly with Transfusion of Platelets, IVIG and Corticosteroids. # Alternative to Splenectomy: Rituximab-> Tx Chronic ITP [30-40% remission] * other for Chronic ITP: Romiplostim and Eltrombopag

Bartonella Henselae - Cat Scratch Disease [CSD] and Bacillary Angiomatosis

# The MC cause of Chronic Lymphadenitis that persist for longer>3weeks # Hallmark: chronic regional lymphadenitis # Affected LN [ from MC to least]: Axillary> cervical> submandibular>periauricular # The MC eye signs: Parinaud Oculoglandular Syndrome: which is unilateral conjunctivitis followed by preauricular lymphadenopathy [5% of all CSD] # Tx: observation , some need azithromycin # Complications: 1)Encephalopathy [5% of all CSD] 2)Stellate macular retinopathy 3)Hematologic: hemolytic anemia, thrombocytopenic purpura, nonthrombocytopenic purpura, and eosinophilia. 4)Leukocytoclastic vasculitis: similar to HSP

Staphylococcus aureus

# The MC cause of pyogenic infection of the skin and soft tissues. # The Most significant risk factor: Disruption of intact Skin # Common cause of acute endocarditis on native valves # Transmitted by hand contact>>hand hygiene # Tx: 1) Initial Empirical life threatening [ex: sepsis or endocarditis]: Vancomycin + Nafcillin or Oxacillin 2) Methicillin-Susceptible: Nafcillin 3) Methicillin-Resistant: Vancomycin

Multicystic Dysplastic Kidney (MCDK)

# The MC cause of: Abdominal Mass in Newborn!!! * BUT Majority are Non-palpable at birth. # In most cases>> Discovered Incidentally during Prenatal U/S # Contralateral Hydronephrosis present in 5-10% of Pt's

Fetal alcohol spectrum disorders (FASDs) - Fetal alcohol syndrome:

# The MC causes of preventable developmental delay and intellectual disability # The MC comorbid mental health: ADHD [50% of Pt's] # Diagnosis: 1) Facial Dysmorphology >2: *Short palpebral fissures *Thin vermilion border of upper lip *Smooth philtrum 2)Deficient Brain Growth: *Head circumference ≤10th centile *Structural brain anomalies *Recurrent nonfebrile seizures 3) Neurobehavioral Features: Cognitive deficit # Hirsutism in the newborn # Outcomes: High Risk for Victimization and Bullying *95% have likelihood of having a Mental Health diagnosis and are at higher risk for Suicide

Mycoplasma pneumoniae

# The MC causing respiratory infections [CAP] in school-age children and young adults. [age 3-15yr] # Tracheobronchitis and Pneumonia the MC # sxs: gradual onset of headache, malaise, fever, and sore throat, followed by lower respiratory sxs: hoarseness and nonproductive cough # The hallmark: cough [ worsen in 1st wk > resolve 2nd] #Clinical findings are often less severe than suggested by the Pt's CXR>> "walking pneumonia" * Pneumonia: interstitial or bronchopneumonic, and involvement is MC: lower lobes. *Bilateral Diffuse/Patchy Infiltrates, Lobar pneumonia, or Hilar Lymphadenopathy [all these 3 - 30% of cases] # CNS disease: the MC outside lung site!!! sxs: encephalitis, transverse myelitis, aseptic meningitis, GBS, ataxia and Bell palsy # Dx: combination of PCR from respiratory samples and serology . Cold hemagglutinins [50% of cases] # Tx: Macrolides, Tetracyclines and Quinolones * Macrolides [Clarithromycin or Azithromycin preferred in age <8yr] * Tetracycline [Doxycycline] for age >8yr * Quinolones [Levofloxacin] NOT 1st line!!!

IgA Nephropathy (Berger Nephropathy)

# The MC chronic glomerular disease in children # Male, benign cause of ESRD during childhood # Acute Nephritic Syndrome, Nephrotic Syndrome # Gross Hematuria 1-2days after URTI or GI infection # Proteinuria< 1,000 mg/24 hr in asxs microscopic hematuria # HTN # Normal serum levels of C3 # Serum IgA: NO diagnostic value because they are elevated in only 15% of cases # Tx: control BP and Proteinuria * ACEi or ARBi - proteinuria * Corticosteroids [if proteinuria presist and GFR>60] * Tonsillectomy

Complications of Neisseria meningitidis

# The MC complication of Acute Severe Meningococcal Septicemia: Focal Skin Infarction [lower limbs and can lead to substantial scarring and require skin grafting] # Acute : Adrenal hemorrhage, endophthalmitis, arthritis, endocarditis, pericarditis, myocarditis, pneumonia, lung abscess, peritonitis, and renal infarcts # Reactivation of latent HSV is common! # Deafness is the Most frequent neurologic sequela of meningitis [5-10% of cases]

Mumps

# The MC complications of Mumps: Meningitis, with or without Encephalitis, Parotid gland and Gonadal involvement. # Other: Pancreatitis , Heart [Myocarditis], Arthritis and Thyroiditis [rare] # Prodrome lasting 1-2 days: fever, headache, vomiting and achiness. Parotitis [70% bilateral] *Submandibular can be enlarged withOUT parotid #The opening of the Stensen duct may be red and edematous # Tx: ↓pain, ↓fever and hydration # Prevention: MMR 1st dose: 12-15mon of age 2nd dose: 4-6yr of age

Meckel diverticulum

# The MC congenital anomaly of the GI tract # omphalomesenteric duct remnants # painless rectal bleeding [sxs average age:2yr] # 50% of all lower GI bleeds in children younger than 2 yr of age. # Dx: radionuclide scan[technetium-99m] # Tx: for symptomatic >> surgical excision [diverticulectomy can be performed safely as either a laparoscopic or open procedure]

Kallmann syndrome

# The MC form of Hypogonadotropic Hypogonadism # ↓LH, ↓FSH, ↓Testosterone # Can be AR, AD and X-linked forms of Inheritance #sxs: Anosmia [smell loss], Synkinesia (mirror movements), Hearing Loss, Midfacial Defects and Renal Agenesis

Hemolytic-uremic syndrome (HUS)

# The MC form of thrombotic microangiopathy (TMA) # Triad: microangiopathic hemolytic anemia, thrombocytopenia, and renal insufficiency # The MC form of HUS is caused by Shiga toxin-producing Escherichia coli (STEC) #occurs 5-7 days after the onset of gastroenteritis with fever, vomiting, abdominal pain, and diarrhea( often bloody) #Dx:combination of microangiopathic hemolytic anemia with schistocytes, thrombocytopenia[<100,000 platelets], and some degree of kidney involvement * PT and PTT - normal!!! * coombs test NEGATIVE [except pneumococci-induced HUS] #Tx: up to 50% of the Pt's may require Dialysis support during the acute phase of the disease. #The prognosis for HUS not associated with diarrhea is more severe!!! *Pneumococci-associated HUS causes increased Pt's morbidity (>80% require dialysis), mortality rate~20%

Achondroplasia

# The MC genetic skeletal dysplasia # disproprotionate between limbs and trunk [ limb relatively shorter , large head] # autosomal dominant

Necrotizing Enterocolitis (NEC)

# The MC life-threatening emergency of the GI tract in the newborn period # 5-10% among among infants with birthweight <1500 g #The greatest risk factor is Prematurity!! Other: Bacterial Colonization of GI and Formula Feeding # Rarely occurs before the initiation of enteral feeding and is much less common in infants fed human milk. #The triad of: intestinal ischemia (injury), enteral nutrition (metabolic substrate), and bacterial translocation. # 90% of cases occur in Preterm infants ! # sxs: Abdominal mass, distention, tenderness, Feeding intolerance, Delayed gastric emptying, Vomiting, Occult/gross blood in stool, diarrhea. Lethargy, apnea/respiratory distress, acidosis, glucose instability, Poor perfusion/shock and DIC #Dx: Plain abdominal x-rays: pneumatosis intestinalis (air in the bowel wall). Portal venous gas is a sign of severe disease! *Pneumoperitoneum: indicates a perforation. Hepatic sonography: may detect portal venous gas in some infants with normal abdominal x-rays. #Tx: cessation of feeding, nasogastric decompression, IV fluids and antibiotics. ** Indications for surgery: perforation on abdominal (pneumoperitoneum) or paracentesis (stool or organism on Gram stain preparation from peritoneal fluid) # The Most Effective Preventive strategy for NEC is the use of Human Milk

RSV - Bronchiolitis

# The MC organism in lower respiratory tract for age<1yr # Causing: Bronchiolitis and Pneumonia # 1st sxs: Rhinorrhea. # Other: Sneezing and a low-grade Fever >>bronchiolitis begins to Wheeze Audibly. # Auscultation: diffuse fine inspiratory crackles and expiratory wheezes. # ↑RR, intercostal and subcostal retractions, hyperexpansion of the chest, restlessness, and peripheral cyanosis. # Signs of severe, life-threatening: Central Cyanosis, Tachypnea of > 70 breaths/min, listlessness, and Apneic Spells. >> CXR: hyperexpanded and almost silent to auscultation because of poor air movement. # CXR: *Normal in 30% of cases! *70% of cases: hyperexpansion of the chest, peribronchial thickening, and interstitial infiltrates. # Segmental or lobar consolidation is Unusual, and Pleural Effusion is Rare!!! # The Most important diagnostic concern is to differentiate Viral infection from Bacterial or Chlamydial infection. -When Bronchiolitis is Not accompanied by Infiltrates on chest radiographs, less likely: Bacterial component. - In infants 1-4 mon of age, Interstitial Pneumonitis may be caused by Chlamydia Trachomatis - With C. trachomatis Pneumonia, there may be a history of Conjunctivitis

PFAPA (periodic fever, aphthous stomatitis, pharyngitis and adenitis)

# The MC recurrent fever syndrome in children. # Ages: 2-5 yr # sxs: recurrent fever, malaise, exudative-appearing tonsillitis with Negative throat cultures, cervical lymphadenopathy, oral aphthae and less commonly: headache, abdominal pain, and arthralgia. # Episodes last 4-6 days. Clock-like 3-6 wk cycles. # signs: mild hepatosplenomegaly, mild leukocytosis, and elevated acute-phase reactants. # Both the frequency and the intensity of the episodes diminish with increasing age. # The etiology and pathogenesis of PFAPA remain unknown # Tx: -Prednisone [single PO]-shorten interval between flares -Cimetidine - preventing recurrences -Colchicine - extend the time between flares. -Tonsillectomy - Complete resolution [curative] # Differentiated from systemic onset JIA by the lack of daily fever and PFAPA Pt's do NOT develop arthritis

Neisseria Meningitidis

# The MC sign: asxs carriage of the organism in the nasopharynx 1) Acute meningococcal septicemia: fever, irritability, lethargy, respiratory sxs, refusal to drink, vomiting and maculopapular rash **As disease progresses>> cold hands or feet and abnormal skin color may be Important signs, capillary refill time becomes prolonged, and a Non-blanching or petechial rash will develop in 80% of cases. **fulminant meningococcal septicemia: progresses rapidly over several hours: septic shock characterized by prominent petechiae and purpura(purpura fulminans) with poor peripheral perfusion, tachycardia, ↑RR, hypotension (a late sign of shock in young children), confusion, and coma . Coagulopathy, hypokalemia, acidosis, adrenal hemorrhage, renal failure, and MI 2) Meningococcal meningitis: fever, headache, photophobia, nuchal rigidity & bulging of the fontanel ***Children younger than 5 yr of age rarely report headache. 3) Occult meningococcal bacteremia: fever with or without associated sxs that suggest minor viral infection. Resolution of bacteremia may occur without antibiotics, BUT sustained bacteremia leads to meningitis in 60% 4) Chronic meningococcemia: rarely, fever, nontoxic appearance, arthralgia, headache, splenomegaly, and a maculopapular or petechial rash. Sxs are intermittent, mean duration of illness of 6-8 wk. ***Blood culture results POSITIVE **associated: Complement deficiency & Sulfonamide Tx # Dx: Leukocytopenia or Leukocytosis, often with ↑Neutrophils & Band forms, Anemia, Thrombocytopenia, Proteinuria, Hematuria and ↑ESR & CRP **Hypoalbuminemia, Hypocalcemia, Hypokalemia, Hypomagnesemia, Hypophosphatemia, Hypoglycemia, metabolic acidosis, and ↑↑lactate levels, are common in Pt's with meningococcal septicemia. **↑↑Prothrombin and Fibrinogen and Prolonged Coagulation Times in Pt's with Coagulopathy #Tx: empirical Tx: 1)Ceftriaxone [3rd gen cephalosporine] 2)β-lactam resistant S. pneumoniae: IV vancomycin once confirmed, the options are: 1)Penicillin G 2)Ampicillin 3)Cefotaxime 4)Ceftriaxone if β-lactam allergy, the options are: 1)Chloramphenicol 2)Ciprofloxacin 3)Meropenem #Antibiotic Prophylaxis to Prevent N. meningitidis: 1)Rifampin 2)Ceftriaxone 3)Ciprofloxacin # Complications: 1) The MC complication of Acute Severe Meningococcal Septicemia: Focal Skin Infarction [lower limbs> skin grafting] 2) Deafness is the Most Frequent Neurologic Sequela of Meningitis[5-10%] # The MC Infectious etiology for Adrenal Insufficiency is Meningococcemia>> Adrenal Crisis > Waterhouse Friderichsen Syndrome

Disseminated Gonococcal Infection [DGI]

# The MC signs: asymmetric arthralgia, petechial or pustular acral skin lesions, tenosynovitis, suppurative arthritis. rarely: carditis, meningitis, and osteomyelitis. # The MC initial sxs: acute onset of polyarthralgia with fever. # Only 25% of patients complain of skin lesions #DGI is classified into 2 clinical syndromes 1) Tenosynovitis dermatitis syndrome [More common] 2) Suppurative arthritis syndrome

brain tumors

# The MC solid tumor in childhood # 2nd MC after ALL

Renal Vein Thrombosis [RVT]

# The MC spontaneous VTE in Neonates [sxs: Hematuria, Abdominal Mass and Thrombocytopenia] * ↑Risk: Infants of Diabetic Mothers * 25% Bilateral 1) Newborn and Infant: Asphyxia, Dehydration, Shock, Sepsis, Congenital Hypercoagulable States, Central Venous Catheters and Maternal Diabetes or Preeclampsia 2) Older Children: nephrotic syndrome, cyanotic heart disease, inherited hypercoagulable states, sepsis, following kidney transplantation, and following exposure to angiographic contrast agents # Sudden onset of Gross Hematuria and Flank Masses # Other: Microscopic Hematuria, Flank Pain, HTN or Microangiopathic Hemolytic Anemia with Thrombocytopenia or Oliguria #RVT is usually Unilateral *Bilateral RVT results in Acute Kidney Injury[AKI] # Dx: U/S: Renal Enlargement Radionuclide: NO renal function Doppler flow: Confirm Dx # Tx: correction of fluid and electrolyte 1) Tx for U/L: Unfractionated or LMWH 2) Tx for B/L: tPA and Unfractionated Heparin Followed by Continued Anticoagulation with Unfractionated or LMWH # Severe HTN secondary to RVT who are Refractory to Antihypertensive Drugs-> Nephrectomy

Streptococcus pneumoniae (Pneumococcus)

# The Most frequent cause of Bacteremia, Bacterial Pneumonia, Otitis media, and Bacterial Meningitis in Children. # Children ≥1 mo old with suspected pneumococcal meningitis: Vancomycin and high-dose Cefotaxime or Ceftriaxone

Hydrocarbons Poisoning

# The Most important toxicity: Aspiration Pneumonitis - Methylene chloride>>metabolized to CO - Benzene>>Acute Myelogenous Leukemia - Nitrobenzene>>Methemoglobinemia - Volatile Hydrocarbons [Toluene, Refrigerants]>> "sudden sniffing death." # sxs: mild CNS depression , Fever and Leukocytosis Cough [ 1st sxs of aspiration] Progress rapidly to ARDS or Respiratory Failure # Emesis and Lavage are Contraindicated !!!

Galactokinase Deficiency

# The ONLY sxs: Cataracts!!! # Lab: ↑↑Blood Galactose levels # Dx: Absence of Galactokinase activity in Erythrocytes or Fibroblast # Tx: Dietary Restriction of Galactose

Sensitivity and Specificity of Components of Urinalysis

# The highest sensitivity [99.8%]: Leukocyte esterase test, nitrite, or microscopy positive next is: Leukocyte esterase or nitrite positive # The lowest sensitivity [53%] Nitrite test # The highest specificity [98%] Nitrite test next is: Microscopy [ bacteria or WBC] # The lowest specificity [72%] Leukocyte esterase or nitrite positive

Maternal Hyperparathyroidism can cause:

# Transient Hypocalcemia # Neonatal PTH secretion is suppressed due to ↑↑ Calcium in maternal # Tetany usually develops within 3 wk

Congenital Hyperthyroidism [Graves]

# Transplacental passage of TRS-Abs from Mothers with History of Graves disease # High levels of TRSAb typically result in Classic Neonatal Hyperthyroidism [Graves] # Infants: Premature and IUGR * other: Low Birth Weight, Stare, Periorbital Edema, Retraction of the Eyelids, Hyperthermia, Irritability, Diarrhea, Feeding Difficulties, Poor Weight Gain, Tachycardia, Heart Failure, HTN, HSM, Cholestasis, Jaundice, Thrombocytopenia and Hyperviscosity # Lab: ↓ TSH ↑ T4, free T4, and T3 # Craniosynostosis and Developmental Delay can be Permanent Sequelae of Hyperthyroidism # Tx: Methimazole and Nonselective βB: Propranolol # Most Neonatal Graves: Remit by 3 mon of age

McCune-Albright Syndrome

# Triad: 1) Polyostotic fibrous dysplasia [leg length discrepancy] 2) Irregularor jagged bordered cafe au lait macules [DONT cross midline] 3)Autonomous endocrine function [Hyperthyroidism] -[Multinodular goiter] [Neonatal Hyperthyroidism] * Precocious Puberty

Neurologic Sequelae from Meningitis:

*Hearing loss *Cognitive Impairment *Recurrent Seizures *Delay in Acquisition of Language *Visual Impairment *Behavioral problems. # Sensorineural hearing loss is the MC sequela of bacterial meningitis: 30% of Pt's with pneumococcal meningitis 10% of Pt's with meningococcal meningitis 5-20% Pt's with H. influenzae type b meningitis. # All Pt's with bacterial meningitis should undergo Audiologic assessment before or soon after discharge.

Orbital cellulitis

# Triad: Proptosis, Painful limitation of movement of the eye, and ↓↓Visual acuity. **other: Edema of the conjunctiva (Chemosis) and Inflammation and swelling of the eyelids may be seen # mean age: 7 ! boys 2x ! # Organisms: group A strep, strep species (especially Strep.anginosus also known as the Streptococcus milleri group), and anaerobes (e.g., Bacteroides, Prevotella). S. aureus, and MRSA, may be seen, most often in older patients. # Complicated sinusitis often follows respiratory viral infection (e.g., influenza) # Pt's: feel ill, febrile, appear toxic, and leukocytosis # Intra-cranial extension in: headache, vomiting, and always if any focal neurologic findings are present # Infection More commonly from the Paranasal (ethmoid) sinuses # All Pt's should undergo CT IV contrast of the orbit, and paranasal sinuses. # Tx: IV Ampicillin with Sulbactam OR IV Clindamycin plus Ceftriaxone, Cefepime (or Cefotaxime if available); **If suspicion for Intracranial extension: Vancomycin plus Cefotaxime (or Ceftriaxone) plus Metronidazole. **If the Pt's does NOT show improvement or if signs of progression: Sinus Drainage should be considered # Children <9 yr of age with a medial sub-periosteal abscess can initially be managed with IV antibiotics, which usually are sufficient for resolution of the abscess. # Children >9 yr of age: routine drainage for a sub-periosteal abscess # For Orbital abscess: drainage should be performed of the orbit and cultures should similarly be obtained from sinuses and the orbital abscess.

Therapy for Urolithiasis

# Tx: Calculi <5 mm will pass 80-90% of the time. An α-adrenergic blocker [Tamsulosin]-medical expulsive Tx 1) Renal stone <2cm: Shock Wave Lithotripsy 2) Renal stone >2cm:Percutaneous Nephrolithotomy 3) Lower pole <1cm: Shock Wave Lithotripsy 4) Lower pole >1cm: Percutaneous Nephrolithotomy 5) Ureteral proximal: Shock Wave Lithotripsy 6) Ureteral distal: URETEROSCOPY 7) Hypercalciuria: ↓↓dietary Na+ and Thiazides 8) Hyperoxaluria: ↓↓dietary oxalate & Potassium citrate 9) Hypocitric aciduria: Potassium citrate & Bicarbonate 10) Hyperuricosuria: Alkalinization , Allopurinol 11) Cystinuria: Alkalinization and ↓↓dietary Na+

Struvite calculi

# UTI caused by urea-splitting organisms (most often Proteus) # Urinary Alkalinization and excessive production of Ammonia>>can lead to the precipitation of magnesium ammonium phosphate (struvite) and calcium phosphate

Neisseria Gonorrhoeae

# Urethritis or Epididymitis in post-pubertal males # Endometritis, Salpingitis, and peritonitis (PID) in post-pubertal females. # Peri-hepatitis (Fitz-Hugh-Curtis syndrome): Dissemination from the fallopian tubes through the peritoneum to the liver capsule # Oropharyngeal sxs are absent!!! # 80% of sexual active female : NO sxs!!! # 10% of sexual active male : No sxs!!! # Rectal carriage 40-60% of cases # Urethritis: purulent discharge and dysuria withOUT urgency or frequency. # Untreated urethritis in males resolves spontaneously in several wks or complicated by epididymitis, penile edema, lymphangitis, prostatitis, or seminal vesiculitis. # Pre-pubertal females- vulvovaginitis: purulent vaginal discharge with a swollen, erythematous, tender, and excoriated vulva and Dysuria. # Post-pubertal females symptomatic gonococcal cervicitis and urethritis: purulent discharge, suprapubic pain, dysuria, intermenstrual bleeding, and dyspareunia. # Gonococcal ophthalmitis may be U/L or B/L >>>Ophthalmia neonatorum caused by N. gonorrhoeae usually appears from 1-4 days after birth >>>discharge becomes thick and purulent, and tense edema of the eyelids with marked chemosis occurs. ***If the disease is not treated promptly, corneal ulceration, rupture, and blindness # Dx: Culture, nucleic acid hybridization tests, and nucleic acid amplification tests (NAAT) # Tx: 1) Infants and Pediatric infections: -Ceftriaxone [1 dose] -Cefotaxime for infants with hyperbilirubinemia - if Ophthalmitis >> hospitalized and evaluated for DGI. 2) Adolescent and Adult Infections: -Ceftriaxone and either Azithromycin or Doxycycline * Should be evaluated for concurrent HIV, hepatitis B, syphilis, and C. trachomatis # Infant born to mother with Gonococcal infection has 30% risk of acquiring Ophthalmic Infection>> To prevent: Topical Erythromycin to infant eye. *If : Erythromycin ointment is Unavailable, Infants at risk for N. gonorrhoeae (especially those born to a mother with UNtreated gonococcal infection or with NO prenatal care)>> Give IV or IM Ceftriaxone 25-50mg single dose

Agammaglobulinemia[XLA]- Bruton

# X-linked # Extra-cellular pyogenic # Low B-CELL[ IgA, IgM, IgM] # Baby get IgG from mother thus after 6months he can suffer from " GEPSHH" G- giardia E- enterovirus P- pseudomona S- strep pneumonia H- hemophilus influenza H- hepatitis

Fabry disease

# X-linked inborn error of glycosphingolipid metabolism # Deficiency of α-galactosidase A # Males with the classic phenotype present in childhood with: Angiokeratomas (telangiectatic skin lesions) Hypohidrosis Corneal and Lenticular opacities painful Acroparesthesias [(severe burning pain involving the palms and soles] #With advancing age, they develop kidney failure, heart disease, and stroke #Fabry crises: lasting from hours to several days, consist of agonizing, burning pain in the hands, feet, and proximal extremities and are usually associated with exercise, fatigue, fever, or a combination. #Dx: clinically and check the enzyme #Tx: Phenytoin and Carbamazepine Renal transplantation and long-term hemodialysis Enzyme replacement therapy (ERT) using recombinant human α-gal A

Selective IgA deficiency

# absence (<5 mg/dL) of serum and secretory IgA is the MC well-defined immunodeficiency disorder. # Pt's can be may develop sinopulmonary or gastrointestinal (GI) infections (especially Giardia) # Associated with Celiac and Autoimmune disorders. # Dx canNOT be made until 4 yr of age, when IgA levels should be matured to adult levels. # Other antibodies: NORMAL level # In 44%: antibodies to IgA >>causes nonhemolytic transfusion reactions #Washed erythrocytes (frozen blood would have this done routinely) or blood products from other IgA-deficient individuals should be administered to patients with IgA deficiency # IVIG, which is >99% IgG, is NOT indicated because most IgA-deficient Pt's make IgG antibodies normally.

PID

# adnexal mass # STD of upper genital tract including: - Tubo-ovarian abscess - endometritis - salpingitis - pelvic peritonitis

Development Milestones few notes

# at 4mon-interested in wider world-not focus on mom # sit unsupported (6-7 mon) # pivot while sitting (around 9-10 mon) # thumb-finger grasp (8-9 mon) # pincer grasp by 12 mon # Voluntary release emerges at 9 mon # object permanence (constancy) by 9mon # nonverbal communication at 7 mon # Babbling ("ba-da-ma") at 8-10mon # stranger anxiety 2-6mon # 1st word by 12mon # points to body parts and 4-6words by 15mon # reach half adult height by 24mon # self-initiated play by 18mon # Separation anxiety by 18mon # vocabulary 10-15 at 18 mon # vocabulary 50-100 at 2 yr [ 2-step commands]

if person is allergic to penicillin

# can take Aztreonam # DONOT give: ampicillin / cephalosporines / carbapenems [ex: meropenem , imipenem]

Q Fever (Coxiella Burnetii)

# children less likely sxs than adult ! # only 40-50% of infected ppl develop sxs # sxs: high fever, severe frontal headache, rash, nonproductive cough, chest pain, vomiting, diarrhea, abdominal pain, arthralgias, and myalgias. * 40% present with Fever * 25% present with Pneumonia or influenza like sxs * >10% present with Meningoencephalitis * >10% present with Myocarditis * 50% present with Rash [maculopapular-purpuric] * 85% present with ↑Hepatic Transaminase levels [normalize within 10 days] # other sxs: pericarditis, hepatitis, hemophagocytosis, rhabdomyolysis, and a hemolytic uremic-like syndrome. # X-ray: single or multiple bilateral infiltrates with reticular markings in the lower lobes. # Tx: usually self-limited 1) Doxycycline - 2wks 2) Doxycycline [5days] follow by TMP/SMX [14days] 3) Pregnant woamn -> TMP/SMX

Primary Ciliary Dyskinesia (PCD)

# chronic sinopulmonary disease, persistent middle ear effusions, laterality defects, and infertility #Neonatal Respiratory Distress: tachypnea, hypoxemia, or even respiratory failure requiring mechanical ventilation. # persistent rhinosinusitis, bronchiectasis, clubbing, chronic sinusitis, chronic cough, nasal polyposis and chronic otitis media leading to conductive hearing loss and myringotomy tube placement, which is often complicated by intractable otorrhea # Pathogens: nontypeable H.influenza, Staph aureus, Strep pneumoniae and P.aeruginosa # 50% of cases have Kartagener triad: situs inversus, chronic sinusitis, and bronchiectasis # Average age diagnosis -4yr #Transmission electron microscopy the gold standard to assess structural defects within the cilium *Curettage from the nasal epithelium to make diagnosis # No therapy ** Clubbing- Long-standing lungs involvement ** Situs Inversus - 50% of cases ** Cilia- No motility>>stasis of secretions>L/URTI **Q: which sxs present in 2yr with PCD that has NOT been diagnosed: Rhinosinusitis since birth

Lab & Manifestation Rickets

# craniotebes [thinning of outer skull] # rachitic rosary [enlargement costochondral] # epiphyseal enlargement [wrist& ankle] # delay closing large fontanelle # bowlegs # delay walking # normal-low calcium serum level # low phosphate # ↑ALP [alkaline phosphate] # ↑PTH # ↓serum 25-hydroxycalciferol

clinical manifestations of TAPVR [Total Anomalous Pulmonary Venous Return]

# depend on the presence or absence of obstruction of the venous channels. # If pulmonary venous return is obstructed, severe pulmonary congestion(!) and pulmonary hypertension(!) #neonates with pulmonary venous obstruction, the CXR: perihilar pattern of pulmonary edema and a small heart

Behcet's disease

# exacerbations and remissions # age of sxs: 8-12yo # 1st sxs: painful oral ulcer [ex: aphthous] # other sxs: genital ulcers, anterior uveitis[ blurred vision, redness, pain and photophobia], skin lesions [ ex: erythema nodosum] and pathergy test[ skin pustular reaction appear after 24-48Hr of saline or puncture] # Dx: oral ulcers (at least 3 times per year) along with 2 other major features, including genital ulcers, a positive pathergy test, uveitis, and skin lesions # Tx: 1) Azathioprine for inflammatory eye disease. 2) Topical sucralfate, steroids for oral and genital ulcers 3) Colchicine for erythema nodosum or arthritis in males and females and for genital ulcers in females.

babies lose up to 10% of birth weight in first week

# formula-feed: regain that by 2nd week # breast-feed: regain that by 3rd week # Baby should grow 30g/day in the 1st mon

Urolithiasis (kidney stones)

# gross or microscopic Hematuria. # If the calculus causes ureteral or renal pelvic obstruction>> severe flank pain (renal colic) or abdominal pain. # Pain radiates anteriorly to the scrotum or labia # Obstruction: Ureteropelvic junction [where the ureter crosses the iliac vessels] and the Ureterovesical junction [the Most narrow segment] # If calculus in Distal Ureter>> irritative sxs: dysuria, urgency, and frequency # If calculus in Bladder>> becomes asymptomatic # If calculus in Urethra>> dysuria and difficulty voiding. # 90% of urinary calculi>>calcified>>radiopaque # Struvite (magnesium ammonium phosphate)>> radiopaque # Nephrocalcinosis [calcification of the renal tissue itself]. MC in premature neonates receiving Furosemide [which causes hypercalciuria]. # The Most accurate>>unenhanced spiral CT scan of the abdomen and pelvis. # Metabolic evaluation for the MC predisposing factors should be undertaken in ALL children with urolithiasis! # 24hr Urine Collections: calcium, oxalate, citrate, uric acid, magnesium and cystine. # Most Pt's: Normocalcemic Hypercalciuria [a.k.a without hypercalcemia]

Epstein-Barr virus (EBV)- Infectious Mononucleosis

# infects>95% of the world's population ! # transmitted via oral secretion # classic Triad: fatigue, pharyngitis, and generalized lymphadenopathy [ anterior&posterior cervical LN] # The classic physical examination findings are generalized lymphadenopathy (90% of cases), splenomegaly (50% of cases), and hepatomegaly (10% of cases) #Leukocytosis[10,000-20,000] *atypical lymphocytes [20-40% of the total number] # Mild Thrombocytopenia~ 50,000-200,000 [>50% without purpura] #Ampicillin Rash: if Pt's treated with ampicillin OR amoxicillin >>morbilliform, vasculitic rash #Dx: 1st: Heterophile antibody tests [Monospot] [positive in 90% of cases of adolescents and adults BUT up to 50% of cases in children younger than 4 yr of age] 2nd: if Heterophile antibody test Negative> check EBV Specific Antibodies: *Acute primary infection: +VCA IgM and IgG ;+/- EA IgG *Recent primary infection: +VCA IgG ;+/- VCA IgM,EA IgG and EBNA IgG *past infection: +VCA IgG, EBNA IgG; +/- EA IgG # +VCA IgM: The Most valuable and specific serologic test for the diagnosis of acute EBV infection and is generally sufficient to confirm the diagnosis!!! # EA-D present in 80% during the Acute phase # Anti-EBNA IgG antibodies are The Last to develop, appear 3-4 mon after the onset of illness and remain at low levels for life! # Absence of anti-EBNA when other antibodies are present implies Recent Infection, whereas the presence of anti-EBNA implies infection occurring more than 3-4 mon previously. #Burkitt lymphoma, Hodgkin lymphoma, aggressive NK cell leukemia, T&NK cell lymphoproliferative disorder, nasopharyngeal carcinoma and gastric carcinoma. # Complications: Splenic Rupture [0.1% of cases] -> Avoid sports for 2-4wk Airway obstruction [<5% of cases] Headache [common] Seizures and Ataxia [1-5% of cases] Alice in Wonderland syndrome (metamorphopsia) Hemophagocytic Lymphohistiocytosis (HLH) # Short courses of Corticosteroids

hematopoietic cell transplant recipients

# leading cause of death is pulmonary complications # at 1st mon after transplant should take antibiotics to prevent infection # if sxs >> CXR. but if normal>>BAL # if missed antibiotics [ex: TMP/SMX] >> Pneumocystis jiroveci [PCP]>> sxs: dry cough and tachypnea with a normal chest radiograph >> BAL

Peutz-Jeghers syndrome

# nasal polyps, hyperpigmentation of the lips, and macules on the buccal mucosa # Autosomal Dominant # gynecomastia and precocious puberty with Sertoli cell tumors in boys and ovarian cysts in girls

Type I GSD-Von Gierke Disease [GSD= glucose storage disease]

# neonatal period: hypoglycemia and lactic acidosis # at 3-4mon of age : hypoglycemic seizures and hepatomegaly #doll-like faces , fat cheeks, short stature, protubrent abdomen , kideny also enlarged BUT spleen and heart normal size!!! # Hallmark: hypoglycemia , lactic acidosis, hyperuricemia and hyperlipidemia #Dx: clinical presentation and lab results of the above mentioned . *neutropenia also present in type 1B #Tx: to maintain normal blood glucose >>continoues NGT infusion of glucose OR orally uncooked cornstarch *Orthotopic liver transplantation cure for type 1 GSD *Bone marrow transplantation correct the neutropenia of type 1b GSD.

Measles (Rubeola)

# sxs: Cough, Coryza, Conjunctivitis [ triple C] High Fever, Exanthem, Photophobia # Koplik spots [50-70% of cases]: appear 1-4days before the rash [ start face & upper neck and descend - maculopapular eruption ] # Cough: The Longest sxs! # Lab: ↓WBC, ↓Lymphocytes and ↓Neutrophils * ESR and CRP: normal!!! # Dx: IgM Antibodies 1-2days after onset of rash!!! [if taken<72hr from rash>> test again!] # Tx: Hydration , Prophylactic Antibiotic and Vitamin A # Pneumonia- The MC cause of death! # Complications in Infants: croup, tracheitis and bronchiolitis # Acute Otitis Media > the MC complication!!! # Subacute Sclerosing Pan-Encephalitis (SSPE):7yr after # Vaccine: 1st dose at 12-15 mon of age, followed by a 2nd dose at 4-6 yr of age. # Side effect of MMR vaccine: fever, rash and rarely transient thrombocytopenia. #Postexposure Prophylaxis: 1) Vaccine: given within 72 hr of exposure 2) Ig: given up to 6 days after exposure

Renal tubular acidosis (RTA)

# non-anion gap (hyperchloremic) metabolic acidosis with Normal GFR # Initial Dx: Normal Anion gap Metabolic Acidosis, Electrolyte Abnormalities, assess Renal Function and rule out other causes of Bicarbonate loss such as Diarrhea # Blood Anion gap: [Na+] − [Cl + HCO3]. Values of < 12 Absence Anion gap. Values of > 20 Presence Anion gap # Urine Anion gap: ([urine Na + urine K] − urine Cl) # Urinalysis: to determine the presence of Glycosuria, Proteinuria or Hematuria # Tx: Bicarbonate Replacement [ for All types!] * Fanconi syn: Phosphate supplementation * Hyperkalemia: Na-K exchange resin (i.e., sodium polystyrene sulfonate) 1) Type I RTA [Distal]: * Hypercalciuria> Nephrolithiasis and Nephrocalcinosis * Hyperchloremia * Hypokalemia * Hypocitraturia * Urine pH>5.5 * Bone disease - Common * Medullary sponge kidney - Rare * Non-anion gap Metabolic Acidosis and Growth Failure * Positive- Urine Anion gap 2) Type II RTA [Proximal]: *Due to Fanconi syndrome, Cystinosis, Galactosemia, Tyrosinemia and Wilson disease * Growth Failure in 1st yr of life, Polyuria, Dehydration (from sodium loss), Anorexia, Vomiting, Constipation, and Hypotonia. [Pt's with Fanconi syndrome have sxs secondary to phosphate wasting such as Rickets!] * Urinalysis in Unremarkable * Urine pH is acidic <5.5 * Negative- Urine Anion gap * Fanconi syndrome: Phosphaturia, Aminoaciduria, Glycosuria, Uricosuria and ↑Urinary Sodium or Potassium 3) Type IV RTA [Hyperkalemic]: * Due to hypoaldosteronism * growth failure in the 1st few years of life. Polyuria and dehydration * Hyperkalemia * Pt's with Obstructive Uropathies: sxs of Pyelonephritis: Fever, Vomiting and Foul-Smelling Urine * Hyperkalemic non-anion gap Metabolic Acidosis * Urine can be Acidic or Alkalic * ↑Urinary Sodium with ↓Urinary Potassium> Absence of Aldosterone effect

alopecia areata

# patches of nonscarring hair loss # Smooth, circular, well defined patches of hair loss without scarring (Bland scalp) #Exclamation point hairs [ broken hair at the edges] #nail involvement [40% of cases] #Dx: clinical ; trichogram #Tx: Intralesional steroids (triamcinolone) Topical immunotherapy

Intussusception

# portion of the alimentary tract is Telescoped 1) The MC cause of GI obstruction in 5 mon and 3 yr 2) The MC abdominal emergency in children younger than 2 yr of age. 3) 60% of Pt's are younger than 1 yr of age 4) 80% of the cases occur before age 24 mon 5) Rare in Neonates 6) The male:female ratio is 3 : 1 7) 90% of cases: Idiopathic # sxs: severe paroxysmal colicky pain [intervals], vomiting, straining efforts with legs and knees flexed and loud cries >> LATER: shock-like, with fever and peritonitis # Lethargy is disproportionate to the abdominal signs # 60% of Infants stool: red blood & mucus [currant jelly stool] # palpable abdominal mass [sausage] #The Classic Triad: pain, palpable sausage-shaped abdominal mass, and bloody or currant jelly stool is seen in <30% of Pt's BUT!!! paroxysmal pain, vomiting, and palpable abdominal mass >90% [if also rectal bleeding so 100%] # Dx: U/S: tubular mass in longitudinal views and doughnut or target appearance in transverse images Air Enema # Tx: Emergency Hydrostatic Reduction ** Pt's with prolonged intussusception and signs of: shock, peritoneal irritation, intestinal perforation, or pneumatosis intestinalis>> hydrostatic reduction should NOT be attempted!!!

Fulminant Meningococcal Septicemia - Neisseria meningitis

# progress rapidly over hours to septic shock characterized by: Purpura Fulminans, Poor Peripheral Perfusion , Tachycardia ,↑HR , Hypotension [ Late sign of Shock in kids ], Confusion and Coma # Other: Coagulopathy, Hypokalemia, Acidosis, Adrenal Hemorrhage, Renal Failure, MI and Meningitis

Chronic Granulomatous Disease (CGD)

# recurrent pneumonia, lymphadenitis, hepatic or subcutaneous or other abscesses, osteomyelitis at multiple sites, a Fx of recurrent infections, or any infection with an unusual catalase+ organism requires evaluation. # The MC pathogen is S. aureus, #Pneumonia, lymphadenitis, osteomyelitis, and skin infections are the most common illnesses #Granuloma formation and inflammatory processes are a hallmark of CGD and may be the presenting symptoms that prompt testing for CGD if they cause: pyloric outlet obstruction, bladder outlet or ureter obstruction, or rectal fistulas and granulomatous colitis simulating Crohn disease. #More >80% of CGD Pt's have +serology for Crohn. #Dx: The classic test for CGD is the nitro-blue tetrazolium dye test. Patients with CGD are unable to activate the NADPH oxidase system; Newer diagnostic methods include the dihydrorhodamine test : a flow cytometry #Tx: hematopoietic stem cell transplantation [HSCT]- the only cure for CGD * daily TMP/SMX to ↓↓bacterial infection # Itraconazole to ↓↓fungal infection # interferon-γ to ↓↓the number of hospitalizations and serious infections

Zollinger-Ellison Syndrome (ZES)

# severe PUD caused by : hypersecretion due to autonomous secretion of GASTRIN by neuroendocrine tumor= gastrinoma # sxs: similar to PUD and diarrhea #↑↑ fasting gastrin level # common in pt's with: MEN1, NF, Tuberous sclerosis # PPI- drug of choice

Pelvic Inflammatory Disease

# spectrum of infectious of the upper genital tract caused by: N. gonorrhoeae, C. trachomatis, and endogenous flora (strep, anaerobes, Gram-bacilli) # Tx: Cefoxitin or Cefotetan plus Doxycycline * alternative: Clindamycin plus a loading dose of Gentamicin followed by maintenance Gentamicin and Ampicillin/Sulbactam plus Doxycycline

Community aquired pneumonia

# strep pneumonia: MC in 3wk-4yr # mycoplasma & chlamydophilia: MC in >5yr # staph aureus: often complicated by influenza virus # strep pneumonia , h.influenza and staph aureus are the major hospitalization & death pneumonia in children in developing countries # Viral[ RSV or Rhinovirus]: INFANT & CHILDREN AGE 1MON-5YR

Gaucher disease [Lysosomal storage diseases]-Jews

# sxs at Adolescence: Bleeding from Thrombocytopenia [epistaxis & bruising] Chronic fatigue from Anemia Hepatosplenomegaly Bone pain Failure To Thrive Delayed Puberty # Development and Intelligence are NORMAL!!! # Hallmark: Gaucher cells in Bone marrow[+PAS] * Erlenmeyer Flask deformity of the Distal Femur # Tx: Enzyme Replacement Therapy (ERT) Bone Marrow Transplantation (BMT) Miglustat

Annular Pancreas

# sxs: Bowel Obstruction, Vomiting, Pancreatitis, or Biliary Colic. # Hx: Maternal Polyhydramnios, Down syndrome, Tracheoesophageal Fistula, Intestinal Atresia, Imperforate Anus, Malrotation and Cardiorenal Abnormalities, and Pancreatitis # Tx: Duodenojejunostomy

Sub-periosteal abscess

Purulent exudate beneath medial orbital periosteum of lamina papyracea Pain on extraocular muscle movement Fever and malaise Displacement of globe (down and out)

Rubella (German Measles)

# sxs: Deafness, Cataracts [most serious-eye sxs], Retinopathy [salt&pepper-MC eye sxs], PDA[MC heart sxs], Pulmonary Artery Stenosis [right more common], Valvular Pulmonic Stenosis, Low birthweight and Psychomotor retardation * Late sxs: DM (20%), thyroid dysfunction (5%), and Glaucoma and Visual abnormalities *Suboccipital, Postauricular, and Anterior Cervical LN are Most Prominent!!! * In children, the 1st sxs: Rash [variable!] It begins on the face and neck * Forchheimer spots # Rash duration: 3days [25-40% without rash] # 70% of older female: Arthralgias and Arthritis # CHRONICITY!!! # Death occur in 35% of cases # Lab: Leukopenia, Neutropenia, and mild Thrombocytopenia # Dx: 1) Rubella IgM enzyme immunosorbent assay 2) Culture: Nasopharyngeal secretions, Urine in the newborn, Cord Blood or Placenta: Congenital Infection 3) PCR testing of amniotic fluid during pregnancy # Complications: not life thertening 1) Thrombocytopenia: petechiae, epistaxis, GI bleeding, and hematuria 2) Arthritis - adult woman 3) Encephalitis- The Most serious complication of postnatal rubella # Nerve deafness is the single MC finding among Infants with Congenital Rubella Syndrome # 1st Trimester: Spontaneous Abortion or CRS # Maternal infection during the first 8 wk of gestation results in the Most Severe Defects. * The risk for Congenital Defects is 90% for Maternal Infection before 11 wk of gestation.

Meningococcal Meningitis

# sxs: Fever, Headache, Nuchal Rigidity, Photophobia and Bulging of Fontanel # Children <5yr of age rarely report Headache!

Rabies virus

# sxs: Fever, Sore throat, Malaise, Headache, Nausea and Vomiting, and Weakness. * The sxs accompanied by: Paresthesia and Pruritus at or near the Site of the bite that then extend along the affected limb>>sxs of Encephalitis: Agitation, Depressed Mentation and Sleep Disturbance # Periods of Lucidity alternating with Periods of Encephalopathy # The Cardinal Signs: Hydrophobia and Aerophobia #The Pathologic Hallmark: NEGRI BODY # Dx: Rabies antigen: Immunofluorescence of saliva or Biopsies of hairy skin or brain.

Vascular rings - Double Arch

# sxs: Stridor, Respiratory distress, Swallowing dysfunction and Reflex apnea # Plain film: AP—wider base of heart Lateral—narrowed trachea displaced forward at C3-C4 # Bronchoscopy: B/L tracheal compression—both pulsatile. # Dx: MRI echo # Tx: Ligate and divide smaller arch (usually left)

Hypervitaminosis A

# sxs: headache, vomiting (early signs), anorexia, dry itchy desquamating skin, bulging fontanels, anorexia, pruritus and seborrheic cutaneous lesions. # With chronic Hypervitaminosis A: fissuring at the corners of the mouth, alopecia and coarsening of the hair, bone abnormalities and swelling, enlargement of the liver and spleen, diplopia, increased intracranial pressure, irritability, stupor, limited motion, dryness of the mucous membranes, and desquamation of the palms and the soles of the feet. #Teratogenicity !!! #Less common sxs include: diplopia, papilledema, cranial nerve palsies, and other symptoms suggesting pseudotumor cerebri. # Radiographs may show hyperostosis affecting several long bones, especially in the middle of the shafts **Serum levels of vitamin A are elevated. **Hypercalcemia and/or liver cirrhosis can be present!

Pontiac Fever [Legionella] -0.5% of legionella

# sxs: high fever, myalgia, headache, and extreme debilitation. # lasting for 3-5 days. #Cough, breathlessness, diarrhea, confusion, and chest pain may occur #Self-limited without sequelae

Hirschsprung disease (congenital aganglionic megacolon)

# the MC cause of lower GI obstruction in neonates! # male:femal > 4:1 # Up to 10% of children with Down syndrome have Hirschsprung disease! # distended abdomen, failure to pass meconium, and/or bilious emesis or aspirates with feeding intolerance. # suspected in any full-term infant (the disease is unusual in preterm infants) with delayed passage of stool [ normally meconium is passed within 48 hr of birth] #Breastfed infants might not suffer disease as severe as formula-fed infants. #Dx: Rectal Biopsy [ Gold Standard] anorectal manometry >Failure of internal anal sphincter relaxation *the rectum is empty but after rectal examination >>explosive passage of stool # Tx: surgery [Swenson,Duhamel and Soave-pull through] # Complication & Cause of Death: Enterocolitis>> sxs: Explosive, Foul-smelling and/or Bloody Diarrhea, Abdominal Distention, explosive Discharge of rectal contents on Digital examination, Diminished peripheral perfusion, lethargy, and Fever >> Tx: hydration, decompression from above and below (nasogastric Salem Sump, rectal tube, rectal irrigation), and the use of broad-spectrum antibiotics

Neuroblastoma

# the MC childhood malignancy age<2yr # the MC Extra-cranial solid tumor in children Median age <2 Abdominal Mass Periorbital ecchymoses (orbital metastases) Spinal cord compression from epidural invasion ("dumbbell tumor") Opsoclonus-myoclonus syndrome Diagnostic findings Elevated catecholamine metabolites Small, Round blue cells on histology N-myc gene amplification

Laryngomalacia

# the MC congenital laryngeal anomaly # the MC cause of stridor in infants and children. # Stridor is inspiratory, low-pitched, and exacerbated by any exertion: crying, agitation, or feeding # sxs in first 2wk of life

Alagille syndrome (arteriohepatic dysplasia)

# the MC syndrome with intrahepatic bile duct paucity. # ↓number of interlobular bile ducts in the portal triads, with normal-size branches of portal vein and hepatic arteriole. #signs: Unusual Facial (broad forehead; deep-set, widely spaced eyes; long, straight nose; and an underdeveloped mandible-triangular shape), Microcornea, Peripheral Pulmonic Stenosis, Spina Bifida occulta, Short Stature, Pancreatic Insufficiency, and Defective Spermatogenesis can reflect or produce nutritional deficiency. # Classic Criteria 5-body systems: 1)Liver/cholestasis- Conjugated Jaundice 2)Dysmorphic facies 3)CHD-peripheral pulmonary artery stenosis 4)Skeleton anomalies-"Butterfly" vertebra & spina bifida 5)Eye- Anterior chamber defect-MC posterior embryotoxon # prognosis is good BUT if untreated >>pruritus, xanthomas with markedly elevated serum cholesterol levels, and neurologic complications of vitamin E deficiency.

Pneumomediastinum

###Dyspnea and transient stabbing chest pain that may radiate to the neck # other: globus pharyngeus, abdominal pain, cough, chest tightness, facial swelling, choking, tachypnea, fever, stridor, and sore throat #Subcutaneous emphysema -> Hamman sign "Sail Sign" or "angel wing sign" occurs when air Deviates the Thymus Upward # Tx: Analgesics * Screen for Asthma * Avoid heavy lifting and the Valsalva maneuver

Chlamydia trachomatis : Lymphogranuloma Venereum [LGV]

#1st stage: primary lesion, painless, transient papule on the genitals. #2nd stage: unilateral femoral or inguinal lymphadenitis with enlarging, painful buboes. The nodes may break down and drain [men]. In women, the vulvar lymph drains to the retroperitoneal nodes. Fever, myalgia, and headache are common. #3rd stage: genitoanorectal syndrome with rectovaginal fistulas, rectal strictures, and urethral destruction. # Among men who have sex with men, rectal infection with LGV can produce a severe, acute proctocolitis, can be confused with IBD or malignancy. #Dx: serology, culture OR molecular testing # Tx: Doxycycline [DOC~21days] alternative: Erythromycin **sexual partners should be treated as well

Bernard-Soulier syndrome

#Autosomal Recessive #Caused by absence or severe deficiency of the VWF receptor (GPIb complex) on the platelet membrane. #Thrombocytopenia, with giant platelets and prolonged bleeding time (>20 min) or PFA-100 closure time. # Platelets are defective in response to Ristocetin. # Lack GPIb/IX/V the Von Willebrand factor receptor

Cystic Fibrosis (CF)

#Autosomal Recessive - Early sign of untreated CF disease : infection , Meconium Ileus[20%] , Exocrine Pancreatic Insufficiency[>85%] , Dehydration , Hyponatremic-Hypocholremic Metabolic Alkalosis and Rectal Prolapse. A quantitative sweat test is an INTEGRAL part of the diagnosis # The Earliest lesion in the lung : bronchiolitis -Dx CF : defined CL >60 , along with one of the following :at least 2 mutation CFTR , typical chronic obstructive lung disease , exocrine pancreatic insufficiency and supporting family history. # Focal Biliary Cirrhosis: The Pathognomonic Liver lesion in CF!!!

Lyme disease (Borrelia burgdorferi) -Ixodes tick

#Early localized [3-30 days]: Erythema migrans (single), variable constitutional symptoms (headache, fever, myalgia, arthralgia, fatigue) #Early disseminated [3-12 wk][20% of cases]: Erythema migrans (single or multiple), worse constitutional symptoms, cranial neuritis, meningitis, carditis, ocular disease, bell's palsy #Late [>2 mon]: Arthritis(knee) [90% cases] #Dx: Clinical Hx + rash Quantitative ELISA and confirmatory WESTERN BLOT #Tx: Age<8: Amoxicillin or Cefuroxime Age>8: Doxycycline [for 28days] * Avoid doxycycline in age<8 due to teeth staining [other S/E photosensitivity] # The only PO cephalosporine: cefuroxime [alternative for Pt's who cannot take doxycycline or who are allergic to penicillin]

Intellectual Disability in child

#The MC is Fragile X Syndrome #Fetal Alcohol Syndrome [FAS] is The MC cause of preventable Developmental Delay and Intellectual Disability

Klinefelter syndrome

#The MC sex Chromosomal Aneuploidy in Humans #The MC cause of Hypogonadism and Infertility in Males # 47XXY # 80% of cases have male karyotype #Learning Disabilities and deficits in "executive function" (concept formation, problem solving, task switching, and planning), and the condition should be considered in boys with psychosocial, learning, or school adjustment problems. Affected children may be anxious, immature, or excessively shy and tend to have difficulty in social interactions throughout life. # ↑LH, ↑ FSH, ↓Testosterone # Tall, Slim, Long Legs , Small Testes ,Cryptorchidism and Gynecomastia [80% of cases]

Henoch-Schönlein Purpura [a.k.a Anaphylactoid purpura OR IgA vasculitis]

#The MC vasculitis of childhood and is characterized by leukocytoclastic vasculitis and immunoglobulin (Ig) A deposition in the small vessels in the skin, joints, gastrointestinal tract, and kidney. #Age 3-10y/o #The Hallmark is rash: palpable purpura >>petechiae, raised purpura, or larger ecchymoses. [extensor surfaces] # skeletal sxs [ 75% of cases]: arthritis # GI sxs [80% of cases]: abdominal pain, vomiting, diarrhea, paralytic ileus and melena # renal sxs [50% of cases]: microscopic hematuria, proteinuria, hypertension, frank nephritis, nephrotic syndrome, and acute or chronic renal failure #Dx: clinical #Lab: leukocytosis, thrombocytosis, mild anemia, and ↑↑ESR & CRP, Occult blood in stool #Tx: mild and self-limited>>hydration, nutrition, and analgesia. Prednisone reduces abdominal and joint pain * severe >>IVIG and plasma exchange # Complications: - Intussusception - Intestinal Perforation - Renal Disease -> Monitor BP and Urinalysis 6 mon after Dx to monitor for development of Nephritis

Nocardia

#sxs: Fever [60%], Cough [30%], Dyspnea [25%], Neurologic deficit [25%] *CNS involvement> sxs: headache, confusion or altered mental status, weakness, and speech impairment. Renal nocardiosis can cause dysuria, hematuria, or pyuria, and gastrointestinal (GI) involvement may be associated with nausea, vomiting, diarrhea, abdominal distention, or melena. Skin infection manifests as sporotrichoid nocardiosis or superficial ulcers and Mycetoma #Dx: Blood Culture [25%], bronchoscopy, tissue biopsy, or abscess aspiration #Tx: TMP/SMX * Linezolid: The Least Resistance * Surgical drainage for abscess

Acquired Hypothyroidism

*Chronic Lymphocytic Thyroiditis (a.k.a Hashimoto or Autoimmune Thyroiditis)-> The MC Cause!!! *Subclinical Hypothyroidism: ↑TSH with Normal T4 # Trisomy 21, Turner syndrome, Klinefelter syndrome, Celiac disease, or T1DM are at Higher Risk for Autoimmune Thyroid Disease # Amiodarone [20%] # Therapeutic Irradiation [Hodgkin Disease] # Radioactive iodine ablative treatment or Thyroidectomy for Graves disease or Thyroid cancer results in: Hypothyroidism # Consumptive Hypothyroidism in: Large Hemangiomas of the Liver # 1st Sign: Slowing of Growth Goiter [Common] # Lab: Hyponatremia, Macrocytic Anemia, Hypercholesterolemia and ↑CPK # Dx: *Thyroglobulin or TPO antibodies: Diagnostic of Chronic Lymphocytic (Autoimmune) Thyroiditis * Goiter from Autoimmune Thyroiditis> U/S: Diffuse Enlargement and Heterogeneous Echotexture

Erlenmeyer Flask

* Gaucher Disease Type 1 * Acute Pericarditis

Antibiotic prophylaxis for secondary prevention of Rheumatic Fever

*Primary prevention: prompt antibiotic treatment of GAS tonsillopharyngitis (e.g. IM penicillin G benzathine every 4week is preferred ) - Rheumatic fever withOUT carditis : 5 years since last attack OR until Pt's age reaches 21 - Rheumatic fever with carditis BUT without valvular disease: 10 years OR until Pt's age reaches 21 - Rheumatic fever with carditis & valvular disease: 10 years OR until Pt's age reaches 40

which toxin poisoning cause bradycardia:

- BetaBlockers - CCB - Digoxin - Clonidine - Organophosphate - Opioids

which toxin poisoning cause Hypotension:

- BetaBlockers - CCB - cyclic anti-depressants - iron - anti-psychotics - barbiturates - clonidine - opioids

Diabetic Fetopathy

- Cariomegaly [ 30% of cases] - Macrosomia: birth weight > 90th percentile or > 4Kg - ↑Risk of birth injuries (e.g., shoulder dystocia) - Polycythemia (associated with ↑risk of hyperviscosity syndrome and hyperbilirubinemia) - Neonatal hypoglycemia - Electrolyte imbalances (hypocalcemia, hypomagnesemia) - Respiratory distress - Hypertrophic cardiomyopathy - Polyhydramnios (fetal hyperglycemia → fetal polyuria)

Treatment of retropharyngeal and lateral pharyngeal abscess:

- IV antibiotics: third-generation cephalosporin combined with ampicillin-sulbactam or clindamycin to provide anaerobic coverage. - surgical drainage -Drainage is necessary in the patient with respiratory distress or failure to improve with intravenous antibiotic treatment.

mother of a newborn has chronic hepatitis B (HBsAg-positive)

- Infants routinely receive hepatitis B immune globulin and hepatitis B vaccine if mother is HBsAg positive. - No delay in initiation of breastfeeding is required.

Bacterial Tracheitis

- Infection of the upper air way that is potentially life threatening. - S. aureus is The MC isolated pathogen!!! - age 5-7yr - sxs: stridor , fever, large amount of purulent sputum , productive cough * the Pt's doesNOT drool !!! -Tx: Vancomycin or Clindamycin and a 3rd-generation Cephalosporin (e.g. Ceftriaxone or Cefepime). When bacterial tracheitis is diagnosed by direct laryngoscopy or is strongly suspected on clinical grounds, an artificial airway should be strongly considered. Supplemental oxygen is usually necessary. - DDx: Croup(parainfluenza-laryngotracheobronchitis, does NOT produce large amount sputum ) Epiglottitis(homophilus inf. , with DROOLING AND NO Stridor , stay in tripod position )

Microcytic hypochromic anemia

- Iron deficiency anemia (IDA) usually presents with a low RBC count and a high RDW, whereas patients with thalassemia usually have a normal RDW and a higher RBC, and a relatively low MCV compared to IDA. - Blood smear: Target cells and Teardrop cells - Confirmatory tests: Hb-electrophoresis - Skeletal deformities (e.g., high forehead, prominent zygomatic bones and maxilla) can be seen on all imaging modalities. X-ray: hair-on-end ("crew cut") sign - Suspect thalassemia in a patient with microcytic anemia that is nonresponsive to iron supplementation!!!! - Bone Marrow iron staining is The Most Accurate method of Diagnosing iron-deficiency Anemia

benign familial hematuria

- Minimal microscopic hematuria without proteinuria and renal dysfunction is generally benign. - Autosomal dominant [ MC from mother] - check Urinalysis on the parents! * if there's Hx of deafness due to Alport syndrome > hearing test

The Indications for giving Nebulized Racemic Epinephrine:

- Moderate to Severe Stridor at rest!!! - The possible need for Intubation - Respiratory Distress - Hypoxia *The duration of activity of racemic epinephrine is <2 hr. * use cautiously in Pt's with Tachycardia, Tetralogy of Fallot or Ventricular Outlet Obstruction!

MCDS response to steroid therapy

- Response: attainment of remission within the initial 4 wk of corticosteroid therapy. - Remission: consists of a urine protein:creatinine ratio of < 0.2 or < 1+ protein on urine dipstick testing for 3 consecutive days. - Relapse: is an increase in the first morning urine protein:creatinine ratio > 0.2 or a reading of 2+ and higher for 3 consecutive days on Albustix testing. - Frequently relapsing: is two or more relapses within 6 mo after the initial therapy or four relapses in a 12-mo period. - Steroid dependent: is a relapse during steroid tapering or a relapse within 2 wk of the discontinuation of therapy. - Steroid resistance: is the inability to induce remission within 4 wk of daily steroid therapy

hemolytic disease of the newborn (HDN)

- Severe sxs: Pallor, Hepatosplenomegaly, Edema, Petechiae, Ascites.[ severe stage: cord Hb<10 and bilirubin>5] - Tx of Unborn infant: Intravascular (umbilical vein) transfusion of packed RBCs is the treatment of choice for fetal anemia, replacing intrauterine transfusion into the fetal peritoneal cavity. Hydrops or fetal anemia (hematocrit < 30%) is an indication for umbilical vein transfusion in infants with pulmonary immaturity. -Tx of Liveborn infant: if severe sxs >>immediate resuscitation and supportive therapy, temperature stabilization, and monitoring before proceeding with exchange transfusion [NaHco3 for acidosis , packed RBC for anemia, volume for hypotension and ventilation for respiratory failure] *Term infants with bilirubin levels ≥20 mg/dL have an increased risk of kernicterus. Ordinary transfusions of compatible Rh-negative, leukoreduced, and irradiated RBCs may be necessary to correct anemia at any stage of the disease up to 6-8 wk of age. - Early IVIG: ↓hemolysis, ↓bilirubin levels, ↓the need for exchange transfusions, ↓the duration of phototherapy, and ↓the length of hospitalization.

Lemierre disease

- infection of the parapharyngeal space - septic thrombophlebitis of the internal jugular vein - embolic abscesses in the lungs - pathogen: Fusobacterium necrophorum, an anaerobic bacteria - Hx of recent pharyngitis with fever, hypoxia, tachypnea, and respiratory distress. - chest imaging: multiple cavitary nodules and pleural effusion. - Tx: IV penicillin or cefoxitin ,surgical drainage of extrapulmonary metastatic abscesses

Chronic Hemolysis

- Splenomegaly and Cholelithiasis can be assessed with Abdominal Ultrasound - Chronic Hemolysis >>>>>bilirubin in bile and jaundice >>>>>Pigment Gallstones>>>>>obstruction of the pancreatic duct >>>>pancreatitis>>>>>lipase up

Posterior Urethral Valves

- The MC cause of Severe Obstructive Uropathy - Mostly in Boys - Discovered Prenatally when Maternal U/S reveals Bilateral Hydronephrosis, Distended Bladder and Oligohydramnios, Lower Abdominal Mass -Tx: Prenatal bladder decompression by Percutaneous vesico-amniotic shunt or Open Fetal Surgery

Duchenne Muscular Dystrophy (DMD)

- The MC hereditary neuromuscular disease affecting all races and ethnic groups - Progressive Weakness, Intellectual Impairment, Hypertrophy of the Calves and Proliferation of Connective Tissue in Muscle - ↑CK 15,000-35,000 IU/L (normal <160 IU/L) - Normal serum CK level is Incompatible with the Dx of DMD

Hypernatremic Dehydration

- The Most Dangerous form of Dehydration bcz it can cause Serious Neurologic Damage, including central nervous system Hemorrhages and Thrombosis - To minimize the risk of Cerebral Edema during the correction of Hypernatremic Dehydration, the serum Sodium concentration should not Decrease by >10 mEq/L every 24 hr. The deficits in Severe Hypernatremic Dehydration may need to be corrected over 2-4 days. - The initial resuscitation of Hypernatremic Dehydration requires restoration of the intravascular volume with NS. LR should not be used because it is more Hypotonic than NS and may cause too rapid a Decrease in the serum [Na+ ]. - To restore intravascular volume: normal saline [NaCl 0.9%] 20ml/kg for 20min - For correct correction over time: half-normal saline [NaCl 0.45%] + dextrose 5% + 20%KCL - if Na ↓ too rapidly : either • Increase sodium concentration of IV fluid OR • Decrease rate of IV fluid -if Na ↓ too slowly: either: • Decrease sodium concentration of IV fluid • Increase rate of IV fluid

Erythroblastosis Fetalis

- Transplacental passage of maternal antibody active against paternal RBC antigens of the infant - characterized by an increased rate of RBC destruction - Hemolytic Anemia [Coombs Test+] and Jaundice in newborn infants - NOT in the First pregnancy [ bcz Rh+ fetal blood transfuse into Rh- mother blood at time of delivery] - The severity of Rh illness worsens with successive pregnancies. -The injection of anti-D gammaglobulin (RhoGAM) into the mother immediately after the delivery of each Rh+ infant has been a successful strategy to reduce Rh hemolytic disease. - Hydrops Fetalis: excessive abnormal fluid in 2 or more fetal compartments (skin, pleura, pericardium, placenta, peritoneum, amniotic fluid) - Bilirubin Pigments stain the amniotic fluid and cord. -The Cord Blood Hemoglobin proportional to the severity of the disease. [ hydrops fetalis ~ 3-4 g/dL ]

Choanal atresia

- Unilateral: asymptomatic for long time until first URI, then persistent nasal discharge with obstruction. - Bilateral: cyanosis [suck in their lips-early sxs] while trying to breathe through nose>> crying RELIVES the cyanosis. # Tx: Oral airway placement. maintaining the mouth in an open position, or intubation * Transnasal Repair is the treatment of choice!

Retropharyngeal abscess

- age <4 years old - Hx of recent ENT infection - staph aerus -sxs: fever, irritability, ↓oral intake, drooling, neck stiffness, torticollis, refusal to move the neck, sore throat and neck pain. Other signs can include muffled voice, stridor, respiratory distress, or even obstructive sleep apnea. - bulging of the posterior pharyngeal wall and Cervical lymphadenopathy

which toxin poisoning cause diarrhea:

- antimicrobials - arsenic - iron - cholinergics - colchicine - opioids withdrawal

Subgaleal hemorrhage

- blood beneath the aponeurosis - often an association with vacuum-assisted delivery -due to rupture of emissary veins connecting the dural sinuses within the skull with the superficial veins of the scalp, sometimes associated with skull fractures, suture diastasis, and fragmentation of the superior margin of the parietal bone OR due to hereditary coagulopathy (hemophilia). -sxs: fluctuating mass that straddles cranial sutures or fontanels that increases in size after birth. - Patients should be monitored for hypotension, anemia and the development of hyperbilirubinemia. -These lesions typically resolve over 2-3 wk.

Occult Meningococcal Bactermia

- fever with OR without associated sxs suggest viral infection - resolution of bacteremia may occur without antibiotics BUT sustained bacteremia leads to meningitis in 60% of cases

which toxin poisoning cause cyanosis:

- methemoglobinemia [ex: nitrites] - amiodarone

which toxin poisoning cause depressed respiration:

- opioids - alcohol - clonidine - barbiturates

which toxin poisoning cause Miosis?

- opioids - organophosphates - cholinergics : clonidine , phenothiazine, olanzapine

Chronic Meningococcemia

- rarely - fever , Non-toxic appearance , headache , arthralgia , splenomegaly, maculopapular or petechial rash - intermittent sxs , duration illness 6-8wks - blood culture Positive - can resolve spontaneously but if not -> Meningitis - can be associated with Complement deficiency and Sulfonamide Therapy # Up to 47% of Chronic Meningococcemia have: LPXL1 gene, leading to a Reduced inflammatory response and the Milder course of infection

Pulmonary Abscess

- risk factors: aspiration, pneumonia, cystic fibrosis, gastroesophageal reflux, tracheoesophageal fistula , immunodeficiencies, postoperative complications of Tonsillectomy and Adenoidectomy and Seizures. -In children, aspiration of infected materials or a foreign body is the predominant source of the organisms causing abscesses. -sxs: fever, cough, emesis, tachypnea, dyspnea, chest pain, sputum production, weight loss, and hemoptysis. -signs: retractions with accessory muscle use, crackles, decreased breath sounds, and dullness to percussion -Tx: Antibiotic choice should be guided by results of Gram stain and culture but initially should include agents with aerobic and anaerobic coverage. Treatment regimens should include a penicillinase-resistant agent active against S. aureus and anaerobic coverage, typically with Clindamycin or Ticarcillin/Clavulanic Acid.

which toxin poisoning cause tachypnea:

- salicylates - sympathomimetics - caffeine - metabolic acidosis - carbon monoxide - hydrocarbon aspiration [ benzene-a.k.a gasoline]

Epididymitis vs Testicular torsion

- similar presentation - Epididymitis is a clinical diagnosis BUT Testicular Torsion should be excluded by DOPPLER ultrasound because similar sxs and is a surgical emergency!!! - Prehn's sign: when you lift the testes> pain is relieved >> think Epididymis if pain isNOT relieved >> think Testicular Torsion >> doppler U/S # Testicular Tosion is the MC cause of testicular pain in boys age 12 yr and older, and is UNcommon before age 10 yr. # The cremasteric reflex always absent in torsion

Congenital Subglottic Hemangiomas

- sxs present within the 1st 2mon of life [Before 6mon] - biphasic stridor [ both in inspiratory and expiratory]-MC! - barking cough and hoarseness - croup - 50% have facial lesions / cutaneous hemangioma - Dx: direct laryngoscopy - Tx: systemic steroids- PO prednisone 2-4mg/kg/day for 4-6wks > if no response discontinue ! Propranolol 2-3 mg/kg/day is merging as a first-line treatment for hemangiomas with the potential to impair function (airway) # PHACES syndrome: Posterior Fossa Malformations Hemangioma Arterial lesions of head and neck Cardiac anomalies Eye Anomalies Sternal cleft * >50% of Pt's have an Airway Vascular Lesion!

Acute Bacterial Sinusitis

- sxs: cough , purulent nasal discharge , fever , pain - clue : tenderness maxillary sinuses with postnasal drip - Dx criteria: sxs>10days without improvement worsening sxs following initial improvement 2 Major OR 1 Major+2Minor Major: • Purulent anterior nasal discharge • Purulent posterior nasal discharge • Nasal congestion or obstruction • Facial congestion or fullness • Facial pain or pressure • Hyposmia or anosmia • Fever (for acute sinusitis only) Minor: • Headache • Ear pain, pressure, or fullness • Halitosis • Dental pain • Cough • Fever (for subacute or chronic sinusitis) • Fatigue -Tx: 45mg/kg/day Amoxicillin [ also Clavulanic -Co-Amoxiclav] if allergy to penicillin : Cefuroxime ,Cefudoxime , Cefixime - If there's NO response within 72Hr> ↑dose to 80mg # Differentiating Bacterial sinusitis from "Cold": 1) Persistence Nasal Congestion, Rhinorrhea and Daytime Cough ≥10 days withOUT improvement 2) Severe sxs of temperature ≥39°C with purulent nasal discharge for 3 days or longer 3) Worsening sxs either by Recurrence of sxs after an initial improvement or new sxs of Fever, nasal discharge, and daytime cough (double sickening )

Lateral pharyngeal abscess

- sxs: fever, dysphagia, bulge of the lateral pharyngeal wall, sometimes with medial displacement of the tonsil -Incision and drainage and culture of an abscessed node provides the definitive diagnosis, but CT can be useful in identifying the presence of a retropharyngeal, lateral pharyngeal, or parapharyngeal abscess

which toxin poisoning cause HTN:

- sympathomimetics - MAO inhibitors - anti-cholinergic - serotonin syndrome - neuroleptic malignant syndrome

which toxin poisoning cause tachycardia:

- sympathomimetics - anti-cholinergic - anti-depressants - anti-psychotics - caffeine - theophylline - salicylate - cyanide - CO - ethanol and opioids withdrawal - serotonin syndrome - neuroleptic malignant syndrome

Complications of retropharyngeal or lateral pharyngeal abscess:

- upper airway obstruction - rupture leading to aspiration pneumonia - extension to the mediastinum - thrombophlebitis of the internal jugular vein - erosion of the carotid artery sheath

Pulmonary Hemorrhage and Hemoptysis treatment

- volume resuscitation and blood transfusion if massive blood loss - Rigid bronchoscopy: for localization of bleeding and for removal of debris, but active bleeding may be exacerbated by airway manipulation. Flexible bronchoscopy and bronchoalveolar lavage [BAL] may be required for diagnosis.

AKI clinical manifestations

1) 3-day Hx of Vomiting and Diarrhea most likely has Prerenal AKI caused by volume depletion, but rule out hemolytic-uremic syndrome (HUS). 2) 6 yr old child with a recent Pharyngitis who presents with Periorbital Edema, HTN and Gross Hematuria most likely has intrinsic AKI- PSGN 3) ill child with Hx of Hypotension or with exposure to Nephrotoxic Medications most likely has ATN 4) neonate with Hx of Hydronephrosis [prenatal U/S] Palpable Bladder most likely has Congenital Urinary Tract Obstruction>>Posterior Urethral Valves 5) Tachycardia, dry mucous membranes, and poor peripheral perfusion suggest an inadequate circulating volume and the possibility of Prerenal AKI 6) HTN, peripheral edema, rales, and a cardiac gallop suggest volume overload and the possibility of Intrinsic AKI from Glomerulonephritis or ATN. 7) Rash and Rrthritis might indicate: SLE or HSP 8) Palpable flank masses may be seen with Renal Vein Thrombosis, Tumors, Cystic Disease, or Urinary Tract Obstruction

Evaluation of immune function should take when manifestation of specific immune disorder present OR in all pt's with positive family history of early infant dead OR known immunodeficiency OR recurrent infection like:

1) >1 systemic bacterial infection [ sepsis, meningitis] 2) >2 serious respiratory or documented bacteria [ cellulitis, abscess , drain otitis media , pneumonia , LNA] within1 year 3) serious unusual side infection [ liver , brain abscess] 4) unusual infection [pcp] 5) >3 hospitalization for severe bacterial infection > should raised concern for a large immune dysfunction

Hepatic Synthetic Function

1) Abnormal Protein Synthesis: - prolonged PT - high INR - low serum albumin 2) Metabolic Disturbances: - hypoglycemia - lactic acidosis - hyperammonemia 3) Poor Clearance of medications dependent on liver function and Altered Sensorium with increased Deep Tendon Reflexes (hepatic encephalopathy). #Monitoring of synthetic function should be the main focus in clinical follow-up to define the severity of the disease. # Acute phase: the degree of liver synthetic dysfunction guides treatment and helps to establish intervention criteria. Abnormal liver synthetic function is a marker of liver failure and is an indication for prompt referral to a transplant center. Serial assessment is necessary because liver dysfunction does not progress linearly #Measurement of the clotting factors(made in liver) is the Single BEST acute measure of Hepatic Synthetic Function. # Altered Synthetic Function is The Most Important Marker of Liver Injury

Classification of Coronary Anomalies Based on Ischemia

1) Absence of ischemia: Most anomalies (split RCA, ectopic RCA from right cusp; ectopic RCA from left cusp) 2) Episodic ischemia: Anomalous origin of a coronary artery from the opposite sinus (ACAOS); coronary artery fistulas; myocardial bridge 3) Typical ischemia: Anomalous left coronary artery from the pulmonary artery (ALCAPA); coronary ostial atresia or severe stenosis

Autoimmune Hemolytic Anemia (AIHA) - WARM antibodies

1) Acute Transient Type: [70-80% of Pt's] -Lasting 3-6 mon. -Age 2-12 yr -Preceded by infection [usually respiratory]. -sxs: acute: pallor, jaundice, fever, and hemoglobinuria,. gradual: primarily fatigue and pallor. -Enlarged spleen [site destruction of IgG-coated RBCs] -Underlying systemic disorders are Unusual! -Good response to Glucocorticoids 2) Prolonged chronic Type: -Infants and Children >12 yr old. -Hemolysis may continue for many months or years. -Abnormalities of other blood elements are common -Response to glucocorticoids is variable & inconsistent. # Lab: -Anemia & Hemoglobin levels <6 g/dL. -Spherocytosis, polychromasia (reflecting the reticulocyte response). -More than 50% of the circulating RBCs may be reticulocytes -Nucleated RBCs usually are present. -Leukocytosis is common. -Platelet count is normal. -DO NOT require complement for activity. -Direct antiglobulin test (Coombs test) are strongly POSITIVE!!! >> sometimes also free antibodies (indirect Coombs test)- IgG class !!! - WARM antibodies!!! #Cephalosporins are the MC cause of drug-induced immune hemolytic anemia!!! # Tx: 1) Mild and compensated hemolysis : NO need Tx ! 2) Sever and sxs : Glucocorticoids [prednisone 2mg] 3) Still Severe despite glucocorticoid therapy: IVIG 4) Chronic, Refractory to conventional Tx: Rituximab 5) Splenectomy

UTI treatment

1) Acute cystitis: If Tx is initiated before the results of a culture and sensitivities are available: TMP-SMX or Nitrofurantoin or Amoxicillin (effective as initial treatment but has a high rate of bacterial resistance) 2) Acute febrile UTIs: Cefixime or Ceftriaxone Cephalexin may also be considered given the increasing resistance of Gram-negative organisms to amoxicillin oral Fluoroquinolone: Ciprofloxacin is an alternative agent for resistant microorganisms-P. aeruginosa, in patients older than 17 yr. Levofloxacin is an alternative quinolone with a good safety profile in children. **However, clinical treatment with fluoroquinolones in children should be used with caution because of potential cartilage damage **some children with a febrile UTI, IM injection of Ceftriaxone followed by oral therapy with a third-generation Cephalosporin is effective(useful in children with vomiting) **Nitrofurantoin should NOT be used in children with a febrile UTI !!!

Kawasaki Disease phases

1) Acute febrile phase is: fever and the other acute signs of illness and usually lasts 1-2 wk. 2) Subacute phase is: desquamation, thrombocytosis, CAA, the highest risk of sudden death in patients in whom aneurysms have developed, and generally lasts about 3 wk. 3) Convalescent phase: begins when all clinical signs of illness have disappeared and continues until the ESR returns to normal, typically about 6-8 wk after the onset of illness.

Otitis Media: 2 types

1) Acute infection: acute otitis media (AOM) 2) Inflammation middle-ear effusion[MEE]: Secretory OM, or otitis media with effusion (OME) # The MC cause of acquired hearing loss in children!!! # Risk factors: Age - first 2yr of life Gender - boys Race - native american, white people Genetic - monozygotic twins Congenital - deficiency in eustachian tube function (craniofacial anomalies [ex cleft] and down syndrome) Socioeconomic status Breast milk feeding - protective against OM Tobacco smoke - Important !!! Exposure to other children Respiratory allergy Season of the year - cold Pneumococcal vaccination status. # Strep.pneumoniae, nontypeable H. influenzae and Moraxella catarrhalis # sxs: ear pain, irritability, change in sleeping or eating habits, Fever [can be the only sxs] # Dx: pneumatic otoscopy: degree of TM mobility is critical assessment of middle-ear fluid, which is a hallmark sign of both AOM and OME ** Abnormalities of TM: 1) Fullness, Bulging or Retraction (normally it's concave) 2) Color-anything BUT gray ( normally it's gray) 3) Opacification ( normally it's translucent) 4) Mobility is The MOST Sensitive and Specific in determining the presence or absence of MEE 5) Bulging of the TM is The Most Specific finding of AOM (97%) # Tx: Amoxicillin [10days] * If Allergy: Cefdinir other Tx for otalgia in AOM: -Acetaminophen, ibuprofen -Benzocaine, antipyrine (topical) [ age>5yr] -Topical antibiotics (fluoroquinolones) with or without steroids for chronic suppurative otitis (perforated tympanic membrane)

AKI lab values

1) Anemia- SLE, Renal Vein Thrombosis, HUS 2) Leukopenia- SLE, Sepsis 3) Thrombocytopenia- SLE, Renal Vein Thrombosis, HUS and Sepsis 4) Hyponatremia- Dilutional 5) Metabolic Acidosis 6) Elevated serum BUN, Creatinine, Uric Acid, Potassium and Phosphate- Diminished renal function 7) Hypocalcemia- Hyperphosphatemia 8) ↓C3 complement- PSGN, MPGN and SLE 9) Hematuria, Proteinuria and RBC or Granular Urinary Casts- Intrinsic AKI 10) WBC, WBC casts with low-grade Hematuria and Proteinuria- Tubulointerstitial disease 11) Urinary Eosinophils- Drug-induced TIN 11) Urinary Indices- differentiating Prerenal AKI from Intrinsic AKI 12) Prerenal AKI: ↑Specific Gravity >1.020 ↑Urine Osmolality UOsm > 500 mOsm/ kg ↓Low Urine Sodium UNa < 20 mEq/L FeNa <1% (<2.5% in neonates) 13) Intrinsic AKI: ↓Specific gravity of < 1.010 ↓Low Urine Osmolality UOsm < 350 mOsm/kg ↑High Urine Sodium UNa > 40 mEq/L FeNa >2% (>10% in neonates)

Long QT Syndromes causes: [LQTS]

1) Antibiotics: erythromycin , clarithromycin , azithromycin, fluoroquinolones and TMP/SMX 2) Antidepressants 3) Antipsychotics: haloperidol , risperidone, SSRI 4) Antiarrhythmic class1A: quinidine, procainamide 5) Antiarrhythmic class3: amiodarone 6) Diuretics: furosemide 7) Hypokalemia : diuretics , hyperventilation 8) Hypocalcemia 9) Hypomagnesemia

Indications for dialysis in AKI

1) Anuria/Oliguria 2) Volume overload [HTN, Pulmonary Edema refractory to Diuretic Tx] 3) Persistent Hyperkalemia 4) Severe Metabolic Acidosis Unresponsive to medical 5) Uremia (Encephalopathy, Pericarditis, Neuropathy) 6) Calcium:Phosphorus imbalance, with Hypocalcemic Tetany 7) Inability to provide adequate nutritional intake because of the need for severe Fluid Restriction

Long QT Syndromes treatment:

1) Beta-Blockers: propranolol , nadolol 2) pacemaker for drug-induced bradycardia 3)In Pt's with syncope despite treatment, an implantable cardiac defibrillator [ICD] is indicated for those who do not respond to β-blockers and those who have experienced cardiac arrest.

DSM-5 Diagnostic Criteria for Tourette Disorder

1) Both multiple motor AND one or more vocal tics have been present at some time during the illness, although not necessarily concurrently. 2) The tics may wax and wane in frequency but have persisted for >1 yr since first tic onset. 3) Onset is before age 18 yr. 4) The disturbance is not attributable to the physiologic effects of a substance (e.g., cocaine) or another medical condition (Huntington disease, postviral encephalitis).

Options when convulsion recurs at home:

1) Buccal or Intranasal- Midazolam 2) Intranasal- Lorazepam 3) Rectal- Diazepam

Clinical Features of Down Syndrome

1) CENTRAL NERVOUS SYSTEM: Hypotonia Developmental delay Poor Moro reflex 2) CRANIOFACIAL: Brachycephaly with flat occiput Flat face Palpebral fissures Epicanthal folds Speckled irises (Brushfield spots) Three fontanels Delayed fontanel closure Frontal sinus and midfacial hypoplasia Mild microcephaly Short hard palate Small nose, flat nasal bridge Protruding tongue, open mouth Small dysplastic ears 3) CARDIOVASCULAR: Endocardial Cushing defects Ventricular septal defect Atrial septal defect Patent ductus arteriosus Pulmonary hypertension 4) MUSCULOSKELETAL: Joint hyperflexibility Short neck Short metacarpals and phalanges Short 5th digit with clinodactyly Single transverse palmar creases Wide gap between 1st and 2nd toes Pelvic dysplasia* 5) GASTROINTESTINAL: Duodenal atresia Annular pancreas Tracheoesophageal fistula Hirschsprung disease Imperforate anus Neonatal cholestasis

Absorption of nutrients in the small bowel varies with the region

1) Duodenum and Proximal jejunum • Calcium • Magnesium • Phosphorus • Iron • Folic acid 2)Proximal 100-200 cm of small intestine • Carbohydrates • Protein • Water-soluble vitamins 3)Distal ileum • Vitamin B12 • Bile acids 4)Colon • Water • Electrolytes

Hypoglycemic infant [העתקתי את הערות , עדיין לא קראתי]

1) First thing to do in hypoglycemia to identify KETONES in urine: If Urine WITH Ketones-> it is NOT associated with INSULIN may be because of (cortisol, glycogen storage disease, etc.) If Urine WITHOUT Ketones we need to think about two main causes Hyperinsulinemia & Fatty acid Deficiency 2)Actually the sentence (METABOLIC PANEL IS NORMAL) will exclude Adrenal insufficiency (Hyperkalemia/Hyponatremia/alkalosis) & Glycogen storage disease (hyperuricemia/hypoglycemia/hyperlipidemia/Lactic acidosis)----The sentence NO REDUCING SUBSTANCES will exclude Galactosemia.. 3)hypoglycemia ? yes , so Check Ketones Ketones positive ? yes, so Check lactate lactate high ? yes , so investigate for inborn error of metabolism lactate normal ? yes , so investigate for glycogen storage disease and ketotic hypoglycemia.. ketones negative ? yes , so Check reducing substances reducing substances positive ? yes , so Check for galactosemia and fructosemia .... reducing substances negative? yes , so check for Insulinoma... 4)not GSD : hyperlipidemia\ hyperuresemia\ lactic acidosis\ hypoglycemia galactosemia: jaundice\ irretable\ FTT\ vomiting\ hypoglycemia\ reducing substance adrenals..: vomiting\ hypoglycemia\ low Na\ high K 5)Congenital Hyperinsulinism: Hypoglycemia in early infancy can cause jitteriness, lethargy, unresponsiveness, or seizures.[1] The most severe forms may cause macrosomia in utero, producing a large birth weight, often accompanied by abnormality of the pancreas. hypoglycemia, detectable amounts of insulin during hypoglycemia are abnormal and indicate that hyperinsulinism is likely to be the cause. Inappropriately LOW LEVELS of free fatty acids and ketones provide additional evidence of insulin excess

Constipation - Functional VS Organic

1) Functional Constipation: - Fecal incontinence (encopresis) with soiling of the undergarments. - Urinary tract infections. - History of large caliber stools - Stool retentive posturing in an attempt to avoid uncomfortable passage of large and/or hard stools 2) Organic Constipation: Hirschsprung disease: -small-caliber soft stool -episodes of explosive soft stool -preceded by lack of stool passage and abdominal distension. - History of delayed meconium passage in the first few days of life. # If Hirschsprung disease is suspected, suction rectal biopsy should be considered as the next step in evaluation.

Abdominal pain: Organic VS Functional [Non-organic]

1) Functional abdominal pain: # Normal growth and physical examination (including a rectal examination) and the absence of anemia or hematochezia are reassuring in a child who is suspected of having functional pain. # Nonspecific pain, often peri-umbilical , IBS and Nonulcer dyspepsia. 2) Organic abdominal pain: # Pain, fever, weight loss, bile/blood emesis, jaundice, hepatosplenomegaly, back or flank pain or pain in a location other than the umbilicus, awakening from sleep in pain, referred pain to shoulder/groin/back, ↑WBC,ESR,CRP, anemia, edema, hematochezia, or a strong family history of IBD or celiac disease.

Indications for Recombinant hGH [rhGH]:

1) GH Deficiency 2) Turner Syndrome 3) Chronic Renal Failure before transplantation 4) Idiopathic Short Stature 5) Small-for-Gestational-Age-Short-Stature 6) Prader-Willi Syndrome 7) SHOX gene abnormality 8) Noonan Syndrome

Contraindications to Breastfeeding:

1) HIV and HTLV 2) Tuberculosis infection 3) Varicella-zoster infection 4) Herpes simplex infection [if active lesions] 5) CMV infection 6) Alcohol [limited amount <0.5g] 7) Chemotherapy, radiopharmaceuticals 8) Infants with Galactosemia 9) Infants with Maple Syrup Urine Disease 10) Infants with PKU *Smoking is NOT contraindicated *for TB: if completed 2wk of Tx>> she CAN breastfeed *for VZV: NO contact and give infant immune globulin *for Hepatitis B: she CAN breastfeed and if mother HBsAg>> give infant HBiG and hepatitis B vaccine

Prevention of Congenital and Perinatal Infections

1) HIV testing [1st prenatal visit] 2) Syphilis Serology [1st prenatal visit] 3) HBsAg Serology [1st prenatal visit] 4) C. trachomatis Genital Culture [1st prenatal visit & 3rd trimester] 5) Neisseria gonorrhoeae Culture [1st prenatal visit] 6) Hepatitis C Antibodies [1st prenatal visit] 7) Rectovaginal GBS Screening [ 35-37wk gestation]

Treatment of botulism

1) Human Botulism Immune Globulin, given intravenously (BIG-IV, also referred to as BabyBIG) for infant botulism ASAP with no delay for lab conformation ! 2) Older Pt's with suspected food, wound, or inhalational botulism may be treated with Heptavalent Botulinum AntiToxin (a.k.a. HBAT) 3) Antibiotic use in infant botulism Pt's is indicated Only for the Treatment of secondary infections ( AVOID Aminoglycoside) 4) Wound botulism requires aggressive treatment with antibiotics and antitoxin and wound debridement # SUPPORTIVE CARE: 1) Fatigability with repetitive muscle activity is the Hallmark 2) Complications are best Avoided by anticipating them 3) meticulous supportive care is a necessity

Varicella vaccine is contraindicated for:

1) Hx of anaphylactic reaction to any component of the vaccine 2) pregnant women 3) persons with cell-mediated immune deficiencies, including: leukemia,lymphoma, and other malignant neoplasms affecting the bone marrow or lymphatic systems 4) persons receiving immunosuppressive therapy 5) persons who have a FHx of congenital or hereditary immunodeficiency in 1st degree relatives unless the immune competence of the potential vaccine recipient is demonstrated. *Children with isolated humoral immunodeficiencies may receive varicella vaccine

Evaluation of the Neonate With Jaundice

1) Jaundice on day 1: Pathologic # DD: Hemolysis, TORCH, Sepsis, Hepatic failure syndromes, Internal hemorrhage # Check: CBC, smear Total and Direct bilirubin Blood type and Coombs test 2) Jaundice on day 2-3: #DD: Usually>Physiologic BUT severe might also: Crigler-Najjar syndrome [a.k.a Non-hemolytic icterus] or early-onset Breastfeeding jaundice 3) Jaundice after day 3 to 1wk: #DD: Bacterial Sepsis or UTI 4) Jaundice after 1st wk to 1st mon: #DD: Breast milk jaundice, Septicemia, Biliary Atresia, Hepatitis, Galactosemia, Hypothyroidism, CF, and Congenital Hemolytic Anemia Crises related to RBC morphology and enzyme deficiencies. 5) Direct/Conjugated Hyperbilirubinemia: #DD: TORCH, Sepsis, Biliary atresia, Cholestasis, Hepatic failure syndromes # Check: Hepatic enzymes, INR, check newborn screen for metabolic disease, blood Glucose, blood Ammonia and Lactate, Urine and blood Cultures, CMV and HSV PCR

Guidelines for Pediatric Platelet (PLT) Transfusion

1) Maintain PLT count >50 × 109 /L with bleeding. 2) Maintain PLT count >50 × 109 /L with major invasive procedure; >25 × 109 /L with minor. 3) Maintain PLT count >20 × 109 /L and marrow failure WITH hemorrhagic risk factors. 4) Maintain PLT count >10 × 109 /L and marrow failure WITHOUT hemorrhagic risk factors. 5) Maintain PLT count at any level with PLT dysfunction PLUS bleeding or invasive procedure

ACR Classification Criteria for SLE [ at least 4out of11 for diagnosis]

1) Malar rash 2) Discoid rash 3) Photosensitivity 4) Oral/Nasal ulcer 5) Arthritis>2[ non-erosive] 6) Serositis[ pleuritis/pericarditis/peritonitis] 7) Persistent proteinuria 8) Seizure/psychosis 9) Hematologic[ Hemolytic anemia, Leukopenia<4000, Lymphopenia<1500, Thrombocytopenia<100,000] 10) Immunologic abnormalities[ +Anti-dsDNA/smDNA, +LUPUS anti-coagulant, ↑ cardiolipin] 11) POSITIVE+ ANA

Paradise Criteria for Tonsillectomy

1) Minimum frequency of sore throat episodes: *At least 7 episodes in the previous year *At least 5 episodes in each of the previous 2 yr *At least 3 episodes in each of the previous 3 yr 2)Clinical features: Sore throat plus at least 1 of the following: Temperature>38.3°c Cervical adenopathy (tender LN or LN>2 cm) Tonsillar exudate Culture positive for group A β-hemolytic streptococcus 3)

Hypercalciuria

1) Nelson>> Idiopathic hypercalciuria, which may be inherited as an autosomal dominant disorder, can manifest as recurrent gross hematuria, persistent microscopic hematuria, dysuria, or abdominal pain in the absence of stone formation 2) Harrison>> Hypercalciuria and hyperuricosuria are also risk factors for unexplained isolated hematuria in both children and adults. In some of these patients (50-60%), reducing calcium and uric acid excretion through dietary interventions can eliminate the microscopic hematuria

End-Stage Renal Disease (ESRD) Features:

1) Normocytic anemia [↓EPO], absolute reticulocyte count is normal or low 2) ↑↑ Hepcidin [normally filtered by the glomerulus and excreted by the kidney so if ↓GFR as in ESRD >>↑ ↑ serum hepcidin] 3) Hyperparathyroidism 4) Deficiencies of vitamin B12 , folate, and carnitine !

Syndromes associated with Neuroblastoma

1) Opsoclonus-myoclonus-ataxia syndrome (Myoclonic jerking and random conjugate eye movements) 2) Pepper syndrome (Massive involvement of the liver with metastatic disease +/- respiratory distress) 3) Horner syndrome (Unilateral ptosis, myosis, and anhidrosis) 4) Hutchinson syndrome (Limping and irritability with bone and bone marrow metastases.) 5) Kerner-Morrison syndrome (Intractable secretory diarrhea) 6) ROHHAD (40% may have neural crest-derived tumors) 7) Neurocristopathy syndrome (congenital hypoventilation syndrome or Hirschsprung disease)

management of acute gastroenteritis:

1) Oral hydration: corrected in 4-6 Hr according to the degree of dehydration 2) Enteral feeding and diet selection: Continued enteral feeding in diarrhea aids in recovery and continued age-appropriate diet after rehydration is the norm. 3) Zinc supplementation: ↓↓duration and severity of diarrhea and could potentially prevent a large proportion of cases from recurring [↓mortality by 46% and hospitalization by 23% 4) Probiotics 5) Antibiotics: Nitazoxanide: anti-infective agent, is effective in the treatment of pathogens: C. parvum, G. lamblia, E. histolytica, Blastocystis hominis, C. difficile, and rotavirus. #Antimotility agents (loperamide) are contraindicated in children with dysentery>> no role in the management of acute watery diarrhea in otherwise healthy children. Similarly, antiemetic agents (phenothiazines) are of little value and are associated with potentially serious side effects (lethargy, dystonia, malignant hyperpyrexia).

Tx for H.Pylori in kids:

1) PPI , CLARITHROMYCIN , AMOXILCILIN 2) PPI , CLARITHROMYCIN , METRONIDAZOL 3) PPI , AMOXICILIN , METRONIDAZOL for 4-6wks # Fidaxomicin- equivalent to vancomycin in adult

Pancytopenia

1) Pancytopenia with Hypocellular Bone Marrow: Inherited Bone Marrow Failure Syndromes (IBMFSs) with Pancytopenia, Acquired Aplastic Anemia and Hypoplastic of Myelodysplastic Syndrome (MDS) 2) Pancytopenia with Hypercellular Bone Marrow In: Primary Bone Marrow Disease (e.g., Acute Leukemia, Myelodysplasia) and 2nd to Autoimmune Disorders (e.g., Autoimmune Lymphoproliferative Syndrome, SLE), Vitamin B12 or Folate Deficiency, Storage Diseases (e.g., Gaucher, Niemann-Pick), Overwhelming Infection, Sarcoidosis and Hypersplenism 3) Pancytopenia with Bone Marrow Infiltration In: Metastatic Solid Tumors, Myelofibrosis, Osteopetrosis, and Hemophagocytic Lymphohistiocytosis

Prophylaxis for Hepatitis A

1) Pre-exposure: [Ig- protect up to 2mon] *HAV vaccine before traveling in: healthy people *IM immunoglobulin before traveling in: children younger <12 mon old, Pt's allergic to a vaccine component, or those who did Not vaccinate *If travel in <2 wk, older patients, immunocompromised, and those with chronic liver disease or other medical conditions should receive both Ig and the HAV vaccine. 2) Post-exposure: [Not effective if 2wk after exposure] *Children younger <12 mon old, chronic liver disease, immunocompromised or if vaccine is contraindicated! *IM immunoglobulin: Pt's older >40 yr of age. *Ig and HAV vaccine in healthy 12 mon- 40 yr old

Indications for surgical closure of a VSD

1) Pt's any age with large defects in whom clinical symptoms and failure to thrive cannot be controlled medically 2) infants between 6-12 mon of age with large defects associated with pulmonary hypertension, even if the symptoms are controlled by medication 3) Pt's older than 24 mon with a Qp : Qs ratio greater than 2 : 1 [mid-diastolic, low-pitched rumble at the apex] 4) Pt's with a supra-cristal VSD of any size

Brainstem Reflex Testing to Determine Brain Death

1) Pupillary light reflex -CN 2&3 2) Oculocephalic reflex (doll's eyes reflex)-CN 3,6&8 3) Oculovestibular reflex -CN 3,4,6&8 4) Corneal reflex -CN 3,5&7 5) Gag and cough reflex - CN9&10

Toxoplasmosis diagnosis

1) Sabin-Feldman dye test -> check IgG antibodies 2) IgG indirect fluorescent antibody (IgG-IFA) test 3) Agglutination test -> check IgG antibodies [cheap] 4) IgM-IFA test -> diagnosis of acute acquired infection with T. gondii in the older child 5) Double-sandwich IgM enzyme-linked immunosorbent assay (IgM-ELISA) -> same as num4 6) IgA-ELISA 7) Differential agglutination test (HS/AC) -> to differentiate recent and remote infections in adults and older children 8) Avidity test ->establish time of acquisition of infection. 9) PCR->amplify the DNA of T. gondii, which then can be detected by using a DNA probe 10) Lymphocyte blastogenesis ->to diagnose congenital toxoplasmosis when the diagnosis is uncertain and other test results are negative [ BUT if this negative> still can't exclude the diagnosis]

DSM-5 Diagnostic Criteria for Persistent (Chronic) Motor or Vocal Tic Disorder

1) Single or multiple motor OR vocal tics have been present during the illness, but NOT both motor and vocal. 3) The tics may wax and wane in frequency but have persisted for >1 yr since first tic onset. 4) Onset is before age 18 yr. 5) The disturbance is not attributable to the physiologic effects of a substance (e.g., cocaine) or another medical condition (Huntington disease, postviral encephalitis). 6) Criteria have never been met for Tourette disorder. Specify if: With motor tics only With vocal tics only

DSM-5 Diagnostic Criteria for Provisional Tic Disorder

1) Single or multiple motor and/or vocal tics. 2) The tics have been present for <1 yr since first tic onset. 3) Onset is before age 18 yr. !!! 4) The disturbance is not attributable to the physiologic effects of a substance (e.g., cocaine) or another medical condition (Huntington disease, postviral encephalitis). 5) Criteria have never been met for Tourette disorder or persistent (chronic) motor or vocal tic disorder.

Classification of Cerebral Palsy and Major Causes

1) Spastic diplegia (35%): MRI -Periventricular leukomalacia -Periventricular cysts or scars in white matter, enlargement of ventricles, squared-off posterior ventricles Causes: Prematurity Ischemia Infection Endocrine/metabolic (e.g., thyroid) 2)Spastic quadriplegia (20%): MRI -Periventricular leukomalacia -Multicystic encephalomalacia -Cortical malformations Causes: Ischemia Infection Endocrine/metabolic, genetic/ developmental 3)Hemiplegia (25%): MRI -Stroke: in utero or neonatal -Focal infarct or cortical, subcortical damage -Cortical malformations Causes: Thrombophilic disorders Infection Genetic/developmental Periventricular hemorrhagic infarction 4)Extrapyramidal (athetoid, dyskinetic) (15%): MRI -Asphyxia: symmetric scars in putamen and thalamus -Kernicterus: scars in globus pallidus, hippocampus -Mitochondrial: scarring of globus pallidus, caudate, putamen, brainstem -No lesions: ? dopa-responsive dystonia Causes: Asphyxia Kernicterus Mitochondrial Genetic/metabolic

Congenital Malformation Syndromes Associated With Congenital Heart Disease

1) Trisomy 21 (Down syndrome): VSD, ASD, Endocardial cushion defect 2) Trisomy 18 : VSD, ASD, PDA, coarctation of aorta, bicuspid aortic or pulmonary valve and TOF 3) Trisomy 13: VSD, ASD, PDA, coarctation of aorta, bicuspid aortic or pulmonary valve 4) XO (Turner syndrome): Bicuspid aortic valve, coarctation of aorta 5) Fragile X: Mitral valve prolapse, aortic root dilatation 6) CHARGE syndrome: VSD, ASD, PDA, TOF, endocardial cushion defect 7) DiGeorge [CATCH 22]: Aortic arch anomalies, conotruncal anomalies 8) Alagille syndrome (arteriohepatic dysplasia): Peripheral pulmonic stenosis, PS, TOF 9) Congenital rubella: PDA, VSD and Pulmonic artery Stenosis 10) Fetal hydantoin syndrome: VSD, ASD, coarctation of aorta, PDA 11) Fetal alcohol syndrome: ASD, VSD 12) Autosomal dominant polycystic kidney disease: Mitral valve prolapse 13) Infant of diabetic mother: Hypertrophic cardiomyopathy, VSD, conotruncal anomalies 14) Noonan syndrome: Pulmonic stenosis, ASD, cardiomyopathy

Anticoagulant and Thrombolytic Therapy

1) Unfractionated Heparin: *Prolongation PTT * MC Complication: Bleeding other: Osteoporosis and HIT 2) Low-Molecular-Weight-Heparin [LMWH]: * The Most Frequently used Anticoagulant in Pediatrics * Anti-factor Xa Activity * Enoxaparin Avoided in Renal Failure] 3) Warfarin: * ↓Vitamin K Metabolism ->↓factors II, VII, IX, X , C&S * Start While Pt's is Anticoagulated with Heparin or LMWH because of Risk of Skin Necrosis. * UFH or LMWH should be Continued until the INR [2.0-3.0] is Therapeutic for 2 days [usually it takes 5-7days] * Monitor PT * MC complication: Bleeding * Teratogen [1st trimester]: Chondrodysplasia Punctata: Nasal Hypoplasia and Excessive Calcifications in the Epiphyses and Vertebrae 4) Direct Oral Anticoagulant: *>18yr * Oral Direct Thrombin Inhibitors: Dabigatran * Inhibitors Factor Xa: Apixaban, Rivaroxaban * NO need to monitor ! 5) Thromboembolic Therapy: * Tissue plasminogen activator (TPA) * Maintain Fibrinogen >100 mg and Platelet >75,000

Classic Triad of Botulism

1) acute onset of a symmetric flaccid descending paralysis with clear sensorium 2) no fever 3) no paresthesias. # Other sxs: constipation, poor feeding, lethargy, weak cry, and diminished spontaneous movement. Dysphagia may be evident as secretions drooling from the mouth. Gag, suck &corneal reflexs ↓↓as the paralysis advances. # If a previously healthy infant (usually 2-4 mon old) demonstrates weakness with difficulty in sucking, swallowing, crying, or breathing, infant botulism should be considered a likely diagnosis! # Rule out sepsis: the MC admission diagnosis!!!

Diagnosis of botulism

1) botulinum toxin in serum OR 2)C. botulinum toxin in wound , enema fluid, or feces

Maternal DM during cardiogenesis > increase congenital defect :

1) cardiac malformation 2) lumbosacral agenesis

endotracheal intubation ( at least 1 )

1) child is unable to maintain airway patency or protect airway from aspiration ( like: neurologic compromise) 2) child failing to maintain adequate oxygenation 3)child failing to control blood co2 and maintain acid-base balance 4) sedation and/or paralysis is require for procedure 5) deterioration that can lead to any 1 from above

Preventable causes of kernicterus

1) early discharge [<48hr] with NO early F/U[ within 48hr of discharge] > this is important in near-term infant[35-37wks] 2) failure to check bilirubin in jaundiced infant in first 24Hr 3) failure recognizing risk factors for hyper-bili 4) underestimation of severity jaundice visually 5) lack of concern regarding having jaundice 6) delay measure bilirubin OR phototherapy despite having jaundice 7) failure respond parent

Goal of maintenance fluid

1) prevent dehydration 2) prevent electrolyte disorders 3) prevent ketoacidosis 4) prevent protein degradation

Complications of TOF for Pt's didnt undergo surgery:

1)Cerebral thromboses- a sequelae of extreme polycythemia and dehydration. Thromboses occur most often in patients <2 yr. 2)Brain abscess is less common than cerebral vascular events and extremely rare today. Patients with brain abscess are usually >2 yr. 3)Bacterial endocarditis

Treatment of ingestion of strong caustic agents

1)Endoscopic evaluation is recommended between 12 and 36 hours after ingestion to allow evaluation of the degree of esophageal injury. 2)If <12 hours since the ingestion >>IV hydration *upper endoscopy is recommended as the most efficient means of rapid identification of tissue damage and must be undertaken in all symptomatic children. *Dilution by water or milk is recommended as acute treatment *neutralization(!), induced emesis(!), and gastric lavage(!) are contraindicated!!!

Differences between external otitis/furunculosis/otitis media (OM)/mastoiditis :

1)Furuncles occur in the lateral hair bearing part of the ear canal; furunculosis causes a localized swelling of the canal limited to 1 quadrant, whereas external otitis is with concentric swelling and involves the entire ear canal 2)OM, the TM may be perforated, severely retracted, or bulging and immobile; hearing usually is impaired. 3)Pain on manipulation of the auricle and significant lymphadenitis are not common features of OM! 4)In Mastoiditis, the postauricular fold is obliterated, whereas in external otitis, the fold is usually preserved. 5)In acute Mastoiditis, Hx of OM and hearing loss is usual; tenderness is over the mastoid and NOT on movement of the auricle; and otoscopic examination may show sagging of the posterior canal wall. ***Mastoiditis sxs: redness and swelling in the Postauricular area and Protrusion and Displacement of the pinna [ inferiorly and anteriorly]

Timing of Selected Primitive Reflexes

1)Palmar grasp: onset: 28 wk gestation fully developed: 32 wk gestation duration: 2-3 mon postnatal 2)Rooting: onset: 32 wk gestation fully developed: 36 wk gestation duration: Less prominent after 1 mon postnatal 3)Moro: onset: 28-32 wk gestation fully developed: 37 wk gestation duration: 5-6 mon postnatal 4)Tonic neck: onset: 35 wk gestation fully developed: 1 mon postnatal duration: 6-7 mon postnatal *Disappearance of Asymmetric Tonic neck reflex means: Infants can begin to Examine objects in the Midline and Manipulate them with Both Hands 5)Parachute: onset: 7-8 mon postnatal fully developed: 10-11 mon postnatal duration: Remains throughout life

Clinical Clues About Cough

1)Staccato or Paroxysmal: Pertussis, CF, foreign body, Chlamydia or Mycoplasma 2)All day, never during sleep: Habit cough 3)Night cough: Sinusitis, reactive airway disease or GERD 4)Barking, Brassy: Croup, habit cough, tracheomalacia, tracheitis, epiglottitis 5)Hoarseness: Laryngeal involvement (croup, recurrent laryngeal nerve involvement), papillomatosis 6)During or following exercise: Reactive airway disease 7)Throat clearing: Postnasal drip or vocal tic 8)Productive (sputum): Infection, CF, bronchiectasis 9)Dyspnea: Hypoxia, hypercarbia

Pertussis (whooping cough)

1)catarrhal stage: (1-2 wk) begins insidiously after an incubation period 3-12 days with nondistinctive symptoms of congestion and rhinorrhea, low-grade fever, sneezing, lacrimation, and conjunctival suffusion. * when sxs wane, coughing marks the onset of the paroxysmal stage (2-6wk)! 2)paroxysmal stage: inexorable paroxysms cough is the hallmark!!! Posttussive emesis is common 3)convalescent stage (≥2 wk), the number, severity, and duration of episodes diminish. #Infants <3 mo old do not display the classic stages. The catarrhal phase lasts only a few days or is unnoticed. . Cough may not be prominent, especially in the early phase, and whoop is infrequent. Apnea and cyanosis can follow a coughing paroxysm, or apnea can occur as the only symptom (without cough). #Adolescents and previously immunized children have shortening of all 3stages of pertussis. Adults have no distinct stages. sxs: sudden feeling of strangulation followed by uninterrupted coughs, feeling of suffocation and bursting headache. #Dx:Leukocytosis (15,000-100,000 cells/µL) is characteristic in the catarrhal stage. *PCR testing on nasopharyngeal wash specimens is the laboratory test of choice for B. pertussis identification * <20% of Culture or PCR tests have positive results in partially or remotely immunized individuals tested in the Paroxysmal stage * Serologic tests for detection of change in antibodies to B. pertussis antigens between acute and convalescent samples are The Most Sensitive tests in immunized Pt's! *single serum sample showing IgG antibody to PT >90 IU/ mL indicates Recent symptomatic infection and usually is positive in the mid-paroxysmal phase. *. Tests for IgA and IgM pertussis antibody, or antibody to antigens other than PT, are NOT reliable methods for serologic diagnosis of pertussis. # Tx: Azithromycin is the drug of choice in all age-groups, for treatment or post-exposure prophylaxis! *TMP-SMX is an alternative to azithromycin for infants >2 mon old and children unable to receive azithromycin. #Azithromycin should be given promptly to all household contacts and other close contacts, such as those in daycare, regardless of age, history of immunization, or symptoms! 1)Close contacts <7 yr old who have received <4 doses of DTaP, DTaP should be given to complete the recommended series. 2)Children <7 yr old who received a 3rd DTaP dose >6 mon before exposure, or a 4th dose ≥3 yr before exposure, should be given a booster dose. 3)Individuals ≥9 yr old should be given Tdap. #Complications: 1) Infants <6 mon: Excessive Mortality and Morbidity 2) Infants <4 mon: 90% of cases of Fatal Pertussis 2) Infants<2mon: Pertussis-associated hospitalization (82%), Pneumonia (25%), Seizures (4%), Encephalopathy (1%) .apnea, secondary infections (e.g., otitis media, pneumonia) # Pulmonary HTN and secondary Bacterial Pneumonia are Severe complications of Pertussis and are the usual Causes of Death #DTaP Vaccines: 4 doses at age: 2>>4>>6>>15-18 months *5th dose at age 4-6yr of age BUT if the 4th dose is given after the 4th birthday - the 5th dose is NOT necessary!!! # Single dose of Tdap is Recommended for children 7-10 yr old who had incomplete DTaP vaccination before age 7 yr

place to palpate pulse in infant

1st Femoral artery 2nd Radial artery

Cellulitis treatment

1st generation Cephalosporine - Cephalexin OR Dicloxacillin * if MRSA suspected : Clindamycin

Vigabatrin can be used:

1st line for Tx of Infantile Spasms in Pt's with Tuberous Sclerosis and 2nd line if Hormonal Therapy was Unsuccessful in other cases of Infantile Spasms.

First sign of Puberty in Females:

1st: Breast bud [thelarche] - age 10~11 yr 2nd: Pubic hair [pubarche] - 6~12 mon later 3rd: Menstrual activity [menarche] - mean age 12.75

First sign of puberty in males:

1st: Growth of the testes [≥4 mL or 2.5 cm diameter] and thinning of Scrotum - age 11~12 yr followed by: Pigmentation of the Scrotum and Growth of the Penis and by pubarche. - Axillary Hair occurs in Mid-puberty

Iron Deficiency Anemia [IDA]

1st: ↓Serum Ferritin <15 [ Most Useful for IDA!!!] 2nd: ↓Serum Iron and ↑Transferrin and ↓Transferrin%[<16%] ↓RBC count MCV<70: late indicator IDA ↑TIBC ↑RDW ↑Serum Transferrin Receptor (sTfR) Hypochromic, Microcytic Elliptocytic or cigar-shaped RBC Anisopoikilocytosis # ↑soluble Transferrin Receptor [sTfR] and ↓Reticulocyte Hemoglobin: Very Useful and Early Indicators of Iron Deficiency # Early Clamping Umbilical Cord (<30 sec)> risk for Iron Deficiency [Delayed (1-3 min) ↓↓risk for Iron Deficiency] # Loss of Blood in Stools can be Prevented by: Breastfeeding or by Delaying the introduction of whole Cow's Milk in the 1st yr of life and then limiting the quantity to <24 oz/24 hr # In Developing countries: Hookworm, Trichuris Trichiura and Plasmodium # Celiac Disease and Giradiasis # Bone marrow iron staining is The Most Accurate method of Diagnosing Iron-Deficiency Anemia # Non-hematologic Complications of IDA: 1) Pica : the desire to ingest nonnutritive substances 2) Pagophagia: the desire to ingest ice. *The Pica can result in the ingestion of Lead-> result in concomitant Plumbism # Lead Poisoning can cause Microcytic Anemia # Tx: daily total dose of 3-6 mg/kg of elemental Iron

Infective Endocarditis [DUKE]

2Majors OR 1Major+3Minors OR 5Minors Major: # Positive+blood culture # Seperate culture for typical organism OR >2 for atypical organism # Evidence of endocarditis on echo: - mass on valve - regurgitant flow near prostheses - abscess , partial dehiscence valve - new valve regurgitation flow Minor: # Predisposing factors # Fever # Embolic signs # Immune signs: - glomerulonephritis - arthritis - RF - Osler node - Roth spots # Single Positive+ culture # Echo doesNOT meet major criteria

Treatment for recurrent OM

3 episodes of AOM in 6-mon period or 4 episodes in 12-mon period with 1 episode in the preceding 6 mon Surgery - Tympanostomy Tube Insertion !!!!

Babies double Height by

4 years

Babies Double Weight by

4mon # Triple weight by 12mon #feed baby 8-12times in first 24hr

Esophageal atresia:

50% of cases are associated with mesodermal defects (VACTERL association):Vertebral anomaly, Anal atresia, Cardiac anomaly, Tracheoesophageal fistula, Esophageal atresia, Renal anomaly, Limb malformation

Parachute Reflex

A developmental reflex that appears around 7-8 months of age and persists throughout life. Elicited with the sensation of falling.

Pompe disease

A hereditary glycogen storage disease in humans arising from deficiency of a lysosomal enzyme and characterized by weakness, enlargement of the heart and cardiac failure, enlargement of the tongue, and moderate enlargement of the liver. infants present in the 1st few months of life with hypotonia, a generalized muscle weakness, neuropathic bulbar weakness, feeding difficulties, macroglossia, hepatomegaly, and a hypertrophic cardiomyopathy. Laboratory findings include elevated levels of serum creatine kinase, aspartate aminotransferase, and lactate dehydrogenase.

Transfusion of ABO-Incompatible red blood cells can cause:

Acute Hemolytic Reaction: # signs of intravascular hemolysis: vomiting, fever, and chills Dark colored and cloudy urine Hemoglobinuria, Hemosiderinuria ↓Serum Haptoglobin ↑LDH ↑Reticulocytes ↑Unconjugated Bilirubin # can develop: renal failure, shock, and DIC if a large volume is transfused

Emergency Treatment of Hyponatremia

Acute Hyponatremia (onset <12 hr) or Serum Sodium concentration <120 mEq/L -> Lethargy, Psychosis, Coma, or Generalized Seizures # Can Cause cell Swelling> Cerebral Herniation # Tx: Water Restriction and Hypertonic 3% NaCl

Complement deficiencies

C1q deficiency -> Systemic lupus erythematosus (SLE). C1 inhibitor (C1 INH) deficiency-> Hereditary angioedema. C2 deficiency-> Pneumococcal infections. [sepsis] C3 deficiency-> Recurrent, Severe Pyogenic Infections: pneumococci, H. influenzae, and meningococci. C5-C9 complement deficiency->Neisseria infection

Allergic Rhinitis Signs on physical examination:

Abnormalities of facial development Dental malocclusion Allergic gape (continuous open-mouth breathing) Allergic shiners (dark circles under the eyes) Chapped lips Transverse nasal crease Conjunctival edema Itching Tearing Hyperemia # Nasal exam: Clear nasal secretions Edematous, Boggy, and Bluish mucus membranes No Erythema Swollen turbinates [block the nasal airway] # Thick, Purulent nasal secretions indicate the presence of Infection.

Roseola (HHV-6) (exanthem subitum or sixth disease)

Abrupt onset of High Fever>> resolves acutely after 72 hr (crisis) but may gradually fade over a day (lysis) When fever resolves >> appearance of pink morbilliform rash on the trunk The rash lasts 1-3 day but is often evanescent # Conjunctivitis # Convulsions are The MC complication of Roseola and are recognized in up to 30% of cases. # Seizures also The MC complication of children with primary HHV-6B infection, occurring in 15% of cases with a peak age of 12-15 mon # Tx: Supportive and Observation

Indication for canceling elective surgery

Active wheezing

Acute Gastrointestinal Allergy

Acute Abdominal Pain, Vomiting or Diarrhea that Accompanies IgE-mediated allergic symptoms in other Target Organs

Poststreptococcal reactive arthritis (PSRA)

Acute Arthritis following an episode of GAS Pharyngitis in Pt's whose illness does not fulfill the Jones Criteria for diagnosis of acute RF

Salmonellosis [Salmonella Non-typhoid]

Acute Enteritis: Incubation 24hr nausea, vomiting and crampy abdominal pain [periumbilical area and RLQ] followed by watery diarrhea and sometimes bloody diarrhea. * Mild Leukocytosis * stool: PMNs and occult blood

Infant Risk factors for SIDS

Age (peak 1-4 mo) Male gender Race and ethnicity (African American, American Indian, Alaska Native, other minorities) Growth failure No breastfeeding No pacifier (dummy) Prematurity Prone and side sleep position Recent febrile illness (mild infections) Inadequate immunizations Smoking exposure (prenatal and postnatal) Soft sleeping surface, soft bedding Bed sharing with parent(s) or other children Thermal stress Overheating Colder season, no central heating

Neonatal sepsis treatment:

Ampicillin + aminoglycoside for 10 days for bacteremia; 14 days for GBS and uncomplicated meningitis; extend to 21-28 days for complicated infections

Infantile hypertrophic pyloric stenosis (IHPS)

Associated with Macrolide use in young infants, especially in those <14 days old. [Erythromycin]

Friedreich Ataxia

Autosomal recessive Loss-of-function, trinucleotide repeat (GAA) in frataxin gene Clinical features Neurologic deficits: Cerebellar ataxia , Dysarthria ,Loss of vibration and/or position sense , Absent deep tendon reflexes Hypertrophic cardiomyopathy Skeletal deformities (eg, Scoliosis) Diabetes mellitus Prognosis Mean survival age 30-40 Mortality due to cardiac dysfunction (eg, arrhythmia, congestive heart failure [CHF])

Fetus Effect of Hyperglycemic Mother:

First 8 weeks: - Cardiac : ASD, VSD , TOF, Transposition, Coarctation, Cardiomegaly - CNS : Neural tube defect , Anencephaly - Kidney: Renal agenesis , Hydronephrosis - GI: Duodenal / Anorectal atresia - Spinal : Sacral agenesis , Caudal regression

Diagnosis of nephrotic syndrome

The diagnosis of nephrotic syndrome is confirmed by urinalysis with the first morning urine protein:creatinine ratio and serum electrolytes, blood urea nitrogen, creatinine, albumin, and cholesterol levels.

The Most accurate method for assessing adiposity in the office:

BMI- Body Mass Index

Septic cavernous sinus thrombophlebitis

Bilateral (contralateral) eye findings: ptosis, proptosis, swelling, ophthalmoplegia Severe headaches Meningismus Decreased vision Fever and severe malaise

Physical Development by the 1st Birthday:

Birthweight has Tripled Length has increased by 50% Head circumference has increased by 10 cm

weight/fluid

Body weight - Fluid/day 0-10kg 100ml/kg 10-20kg 1000ml+50ml/kg[for each kg >10kg] >20kg 1500ml+20ml/kg[for each kg>20kg] # 100-50-20/day OR # 4-2-1/Hr #Maximum total fluid per day: 2400ml/24Hr

Mid-parental Height equation

Boys: father+(mother+13cm) / 2 = Girls: (father-13cm)+mother/2=

Minimal change disease treatment

Children with onset of uncomplicated nephrotic syndrome between 1 and 8 yr of age are likely to have steroid-responsive MCNS, and STEROID therapy may be initiated without a diagnostic renal biopsy!!! [prednisone or prednisolone should be administered as a single daily dose of 60 mg/m2 /day or 2 mg/kg/day to a maximum of 60 mg daily for 4-6 wk] Children with features that make MCNS less likely (gross hematuria, hypertension, renal insufficiency, hypocomplementemia, or age < 1 yr or > 12 yr) should be considered for renal biopsy before treatment. !!!

DiGeorge Syndrome - CATCH22 mnemonic

CATCH-22 C ardiac anomalies A nomalous face = facial dysmorphism T hymic aplasia / Hypoplasia C left palate H ypocalcaemia due to hypoparathyroidism 22 -affected chromosome

Respiratory distress in delivery room; nasogastric tube cannot be passed through nares, you should suspect of:

CHARGE syndrome(coloboma of the eye, heart anomaly, choanal atresia, retardation, genital and ear anomalies).

50% of pt's with choanal atresia have: CHARGE

CHARGE: C- coloboma H- heart disease A- atresia choanal R- retarded growth G- genital hypoplasia E - ear abnormalities

Chronic Constipation: Rome III Criteria

CHILDREN WITH A DEVELOPMENTAL AGE OF 4-18 YR: Must include 2 or more of the following in a child with a developmental age of at least 4 yr with insufficient criteria for diagnosis of irritable bowel syndrome: • ≤2 Defecations per week • ≥1 Episode of fecal incontinence per week • History of retentive posturing or excessive volitional stool retention • History of painful or hard bowel movements • Presence of a large fecal mass in the rectum • History of a large-diameter stool that might obstruct the toilet #If an impaction is present on the initial physical examination, AN ENEMA IS USUALLY REQUIRED TO CLEAR THE IMPACTION WHILE STOLL SOFTENERS ARE STARTED AS MAINTENANCE MEDICATIONS. Typical regimens include the use of polyethylene glycol preparations, lactulose, or mineral oil.

What is the major cause of morbidity and mortality in children and adolescents with DM type 1

Cerebral Edema complicating the treatment of DKA *** give Mannitol !!!

Treatment of Kawasaki Disease

IVIG and ASPIRIN

What is the Most Severe complication of treatment with total parenteral nutrition [TPN]:

Cholestasis [conjugated bilirubin >2 mg/dL] # Risk factors for TPN-associated Cholestasis: prolonged duration of TPN prematurity low birthweight sepsis necrotizing enterocolitis short bowel syndrome

child abuse - radiologic findings

Classic metaphyseal lesions Rib fractures especially posteromedial Scapular fractures Spinous process fractures Sternal fractures

Trichotillomania

Compulsive pulling out of one's own hair → ill defined patchy hair loss and hairs of different lengths

The major concern for children with chronic otitis media effusion

Conductive hearing loss which might interfere with speech and language during early years of life

Ivemark syndrome

Congenital absence of the spleen [asplenia] Cyanotic heart defects Dextrocardia Bilateral trilobed lungs Heterotopic abdominal organs #Howell-Jolly bodies are seen in asplenia !!!

Variable decelerations:

Cord compression. abrupt decrease & return baseline ( < 60bpm)

Uncontrolled Maternal Hypothyroidism or Hyperthyroidism Can Cause:

Infertility Spontaneous Abortion Premature Labor Fetal Death

Nasal Polyps

Cystic fibrosis: The MC childhood cause of Nasal Polyposis [up to 50% of CF Pt's have: Obstructing Nasal Polyposis] * Other causes: Chronic Sinusitis and Allergic Rhinitis

Pesticides: Cholinesterase-Inhibiting Insecticides [Organophosphates and Carbamates Poisoning]

DUMBBELS mnemonic Diarrhea/Defecation Urination Miosis Bronchorrhea/Bronchospasm Bradycardia Emesis Lacrimation Salivation. #Nicotinic sxs: Muscle Weakness Fasciculation Tremors Hypoventilation (diaphragm weakness) Hypertension Tachycardia Dysrhythmias #Tx: washing all exposed skin with soap and water and immediately removing all exposed clothing # Antidots: Atropine and Pralidoxime

1st Manifestation of Pain in Infants and children with Sickle Cell Anemia:

Dactylitis [ referred to as Hand-Foot-Syndrome] * The cardinal clinical feature of sickle cell anemia is: acute Vasooclusive Pain # Tx: Analgesics: Hydrocodone or Oxycodon # Other : Avascular Necrosis Priapism Fat Embolism Syndrome Nocturnal Enuresis [Renal Involvment] Cerebral Venous Thrombosis Acute Chest Syndrome[ACS]: Life-Threatening Pulmonary complication of Sickle Cell Disease Pulmonary HTN: Major risk of Death # Tx of Sickle Cell Anemia: *Hydroxyurea [ from 9mon of age] *Hematopoietic Stem Cell Transplantation *RBC Transfusion [can cause Iron Overload-> Deferoxamine]

Prolonged deceleration

Decrease 15 bpm for 2-10min

Cholera

Dehydration Elevated Urine Specific Gravity Hemoconcentration Hypoglycemia Metabolic Acidosis Rice-Water Stool Complications: 1) Renal Failure [due to prolonged hypotension] 2) Hypokalemia [>nephropathy myocardial necrosis] 3) Hypoglycemia [>seizures] Tx: Rehydration!!!!! * Antibiotic [Tetracycline]: for severe and after vomiting stops *Alternative: Single-dose Azithromycin or Erythromycin

Leukocyte Adhesion Defect (LAD)

Delayed umbilical cord detachment Leukocytosis Recurrent infections

Niacin (Vitamin B3) Deficiency -Pellagra

Dermatitis Diarrhea Dementia

Dysgraphia

Difficulty express thoughts on paper Unreadable penmanship Problem manipulating pencil Delay fine motor skills *penmanship = the art or skill of writing by hand

Dysnomia

Difficulty in recall names OR word for common objects

Dyslexia

Difficulty in word recognition and word decoding [ ability to translate letter to sound with precision and speed]

Pragmatic language disease

Difficulty use language in social context > impulsive interaction

Dyspraxia

Difficulty with routines " clumsy"

chromosomal disorders

Down syn- trisomy 21 Edward syn- trisomy 18 Patau syn- trisomy 13 Klinefelter syn- 47XXY Turner syn- 45XO

Ethylene Glycol Poisoning

Early sxs: nausea, vomiting, CNS depression, and inebriation. Delayed sxs: anion gap metabolic acidosis, hypocalcemia, and acute kidney injury. Even later: cranial nerve palsies # Tx: Fomepizole and Hemodialysis * Indications for Hemodialysis: methanol level >50 mg/ dL acidosis severe electrolyte disturbances renal failure

Early Deceleration:

Head compression , shallow, mirror , uniform. begins in early contraction > peak > return baseline when contraction over

Rheumatic fever [DUKE]

Either 2 majors OR 1major+2minors Major: "SPECK" S- subcutaneous nodule-<1% of cases P- polyarthritis [migratory]-75% of cases E- erythema marginatum[annular]-1% of cases C- chorea Sydenham- 10% of cases K- "carditis"[50-60%] Most Serious Minor:"↑FPP" ↑- ESR & WBC F-fever P-polyarthralgia P- PR prolonged +Evidence: * Positive throat culture or rapid strep antigen test * Elevated or increasing streptococcal antibody titer # Clinical Maneuvers to elicit features of Chorea include: 1) Milkmaid's grip (irregular contractions and relaxations of the muscles of the fingers while squeezing the examiner's fingers) 2) Spooning and Pronation of the hands when arms are extended 3) Wormian Darting Movements of the tongue on protrusion 4) Examination of Handwriting to evaluate fine motor movements # Pt's with: Isolated Chorea should be Treated with: Phenobarbital [drug of choice] If phenobarbital is Ineffective>>>Haloperidol # Pt's with Migratory Polyarthritis and those with Carditis withOUT Cardiomegaly or CHF should be treated with Oral Salicylates 50mg 2-4wk # Pt's with Carditis and Minimal Cardiomegaly and/or CHF should get Corticosteroids> Prednisone 2mg

Maternal and Antenatal Risk factors for SIDS

Elevated 2nd trimester serum α-fetoprotein Smoking Alcohol use Drug use (cocaine, heroin) Nutritional deficiency Inadequate prenatal care Low socioeconomic status Younger age Lower education Single marital status Shorter interpregnancy interval Intrauterine hypoxia Fetal growth restriction

The MC neurologic manifestations of TSC

Epilepsy Cognitive Impairment Autism spectrum disorder ***Infancy with Infantile Spasms

Laboratory Clues in Toxicologic Diagnosis [Hypocalcemia]

Ethylene glycol Fluoride

developmental dysplasia of the hip [DDH] risk factors: 7F's

Family history First born Female Fluids (oligohydramnios) Five (multiple gestation) Fat (large for gestational age) Fart (breech presentation)

Disseminated Intravascular Coagulation (DIC) diagnosis

Factors II, V, VIII, Fibrinogen and Platelets may be consumed during the clotting process leading to: Prolongation of TT, PT and PTT ↓Platelet count ↓Fibrinogen ↑↑↑Fibrinogen Degradation Products (D-dimers) Blood smear: Schistocytes # Shock, Bleeding [1st from sites of Venipuncture or Surgical Incision], Petechiae and Ecchymoses # Tx: Treat the Trigger that caused DIC and Restore Normal Homeostasis * Severe Bleeding> FFP, Vitamin K and Blood

UTI risk factors

Female gender Uncircumcised male Vesicoureteral reflux Toilet training Voiding dysfunction Obstructive uropathy Urethral instrumentation Sources of external irritation (such as tight clothing, pinworm infestation) Constipation Anatomic abnormality (labial adhesion) Neuropathic bladder Sexual activity Pregnancy

Likelyhood of children to have strep infection[GAS]: McIsaac Criteria [modification of Centor criteria for adults]

Fever >38°c Absence Cough Tender Anterior Cervical Adenopathy Tonsillar Swelling or Exudates Age 3-14 yr * >4 points = 67% positive prediction

Kawasaki disease criteria

Fever persisting at least 5 days [100% of cases] Presence of at least 4 principal features: 1) Changes in extremities: Acute: Erythema of palms, soles; edema of hands, feet Subacute: Periungual peeling of fingers, toes in weeks 2 and 3 2) Polymorphous exanthem 3) Bilateral bulbar conjunctivitis withOUT exudate 4) Changes in lips and oral cavity: erythema, lip cracking, strawberry tongue, diffuse injection of oral and pharyngeal mucosa 5) Cervical lymphadenopathy (>1.5 cm diameter), usually unilateral 6) Exclusion of other diseases with similar findings * rash can be: maculopapular, erythema multiforme, or scarlatiniform

The MC cause of End-Stage Renal Disease in adolescents

Focal Segmental GlomeruloSclerosis [ FSGS ]

Sandifer syndrome

GERD + Torticollis + Dystonic body movement +/- Hiatal hernia

Clinical Features of Growth Hormone Deficiency:

Growth and development Birthweight: near-normal Birth length: may be slightly decreased Postnatal growth: severe growth failure Bone age: delayed, but may be advanced relative to height age Genitalia: micropenis in childhood; normal for body size in adults Puberty: delayed 3-7 yr Sexual function and fertility: normal Craniofacies Hair: sparse before the age of 7 yr Forehead: prominent; frontal bossing Skull: normal head circumference; craniofacial disproportion due to small facies Facies: small Nasal bridge: hypoplastic Orbits: shallow Dentition: delayed eruption Sclerae: blue Voice: high pitched Musculoskeletal/metabolic/miscellaneous Hypoglycemia: in infants and children; fasting symptoms in some adults Walking and motor milestones: delayed Hips: dysplasia; avascular necrosis of femoral head Elbow: limited extensibility Skin: thin, prematurely aged Osteopenia

Campylobacter infections can be followed by:

Guillain-Barré Syndrome Reactive Arthritis Erythema Nodosum

Liddle Syndrome

HTN and Hypokalemia # Tx: Low-salt diet Potassium Supplementation Sodium channel blocker: Amiloride or Triamterene

Physical Development by the 2nd Birthday:

Half ultimate adult Height Head growth slows: 85% of adult head circumference achieved by age 2 yr [5cm remaining]

Classic symptoms of Glomerulonephritis

Hematuria Tea- or cola-colored Urine Facial or body Edema Hypertension Oliguria Diseases manifesting Glomerulonephritis: Postinfectious Glomerulonephritis IgA Nephropathy Membranoproliferative Glomerulonephritis Henoch Schönlein Purpura (HSP) nephritis Systemic Lupus Erythematosus (SLE) nephritis Granulomatosis with Polyangiitis (Wegener) Microscopic Polyarteritis Nodosa Goodpasture Syndrome Hemolytic-Uremic Syndrome (HUS)

What is The MC cause of Death in Pt's with Acute Hepatic Insufficiency?

Hepatic failure>> NO Albumin synthesis >> Brain Edema>>Cerebral HERNIATION !!!

In infants younger<2 yr of age, Valproic Acid-induced :

Hepatotoxicity- Liver Necrosis

Coxsackievirus A

Herpangina (fever and ulcerated papules on posterior oropharynx)

Enteric Fever (Typhoid Fever) - Salmonella Typi

High Fever [95%] Coated tongue [76%] Anorexia [70%] Vomiting [39%] Hepatomegaly [37%] Diarrhea [36%] Toxicity [30%] Abdominal pain [20%] Pallor [20%] Splenomegaly [17%] Constipation [7%] Headache [4%] Jaundice [2%] Obtundation [2%] Ileus [1%] Intestinal perforation [0.5%] # Transmission: Contaminated Food or Water # Rose spot [25%] -appear on the 10th day of illness # Complications: Altered LFT Intestinal Hemorrhage (<1%) Perforation (0.5-1%) # Dx: Blood Culture Widal Test: antibodies against O and H antigens of S. Typhi # Tx: Hydration Antipyretic therapy-Acetaminophen 1) Uncomplicated: Chloramphenicol or Amoxicillin * drug resistant: Fluoroquinolone or Ceftriaxone 2) Complicated [severe]: Fluoroquinolone * drug resistant: Ceftriaxone

ECG changes with Electrolytes

Hyperkalemia: Peak T-wave [1st sign]-> Prolonged PR, ST-depression and Flat P-wave-> Prolonged QRS [Most Severe sign] Hypokalemia: Flat T-wave , ST-depression and U-wave Hypomagnesemia: Flat T-wave and Prolonged ST Hypermagnesemia: Prolonged PR, QRS and QT *If >15 (Severe): Complete Heart Block and Arrest

Gordon syndrome [ a.k.a. Pseudo-Hypo-Aldosteronism]

Hyperkalemic Hyperchloremic Metabolic Acidosis Hypercalciuria HTN # Tx: Thiazide

Which test to distinguishing cyanotic CHD from pulmonary disease

Hyperoxia Test

Bartter syndrome

Hypokalemic Hypochloremic Metabolic Alkalosis Hypercalciuria and Salt Wasting Normal or LOW HTN # Resemble with chronic use of Loop Diuretics # Tx: preventing dehydration and KCL

Gitelman syndrome

Hypokalemic Hypochloremic Metabolic Alkalosis Hypocalciuria Hypomagnesemia Normal or LOW HTN # Resemble with chronic use of Thiazide Diuretics # Correct K and Mg

Syndrome of Inappropriate Antidiuretic Hormone Secretion [SIADH]

Hyponatremia Urine >100 mOsm/kg Normal or slightly elevated Plasma Volume High Urine Sodium Low Serum Uric Acid # Uncommon in Children # Most Cases result from Excessive Administration of Vasopressin in the Treatment of CDI # Drugs ↑Vasopressin Secretion: Oxcarbazepine, Carbamazepine, Chlorpropamide, Vinblastine, Vincristine and Tricyclic Antidepressants [TCA] # Tx: Oral Fluid Restriction [1L/24hr]

Pediatric diseases associated with Hyperlipidemia:

Hypothyroidism Nephrotic syndrome Biliary atresia Glycogen storage disease Niemann-Pick disease Tay-Sachs disease SLE Hepatitis Anorexia nervosa

Preeclampsia-Eclampsia, Chronic HTN and Chronic Renal Disease can result In:

IUGR Prematurity Fetal Death #All probably caused by ↓Uteroplacental Perfusion

Acute Kidney Injury defined as:

Increase in serum creatinine by ≥ 0.3 mg/dL from baseline within 48 hr OR Increase in serum creatinine to ≥ 1.5 times baseline within the prior 7 days OR Urine volume ≤ 0.5 mL/kg/hr for 6 hr # Common Causes of AKI: 1) Prerenal: Dehydration, Sepsis, Hemorrhage, Severe Hypoalbuminemia, and Cardiac Failure 2) Intrinsic: *Glomerulonephritis [PSGN, MPGN, HSP, anti-GBM-Goodpasture and Lupus Nephritis] *Acute Tubular Necrosis [Hypotension, Hemorrhage, Diarrhea, Heart Failure, Cirrhosis, Hepatorenal syndrome, Peritonitis, Abdominal Compartment Syndrome, Sepsis, Renal Artery Obstruction, HUS, sickle cell anemia, Transplant Rejection and DRUGS: Cyclosporine, Tacrolimus, ACEi, Radiocontrast agents] Ischemic/hypoxic injury and nephrotoxic insults are the most common causes of intrinsic AKI 3) Postrenal: Posterior Urethral Valves and Bilateral Ureteropelvic Junction Obstruction

Kernicterus

Indirect bilirubin>20mg

Esophageal Atresia (EA)

Infant with Excessive Salivation , Cough and Chocking during 1st oral feeding # Mother has Hx of Polyhydramnios # Unable to pass NGT to stomach # If gas present in GI tract > associated with Tracheoesophageal Fistula [TEF]

Infant born to mother who use Cocain and Heroin can have:

Intra-Uterine Growth Retardation [IUGR]

The cause of anterior uveitis in children:

Juvenile Rheumatoid Arthritis Kawasaki disease Reactive arthritis (post-infectious) Sarcoidosis

Avoid ceftriaxone in neonates because

Kernicterus

In compare to adult meningitis infant might NOT HAVE:

Kerning and Brudzenski signs nuchal rigidity BUT! they have bulging fontanel

VSD Clinical Manifestations

Large VSDs with excessive pulmonary blood flow and pulmonary hypertension are responsible for: dyspnea feeding difficulties poor growth profuse perspiration recurrent pulmonary infections cardiac failure in early infancy.

Treatment Atypical Pneumonia:

Legionella Chlamydophila pneumoniae Mycoplasma pneumoniae Empirical treatment with a broad-spectrum Cephalosporin plus a Macrolide or Quinolone

LABORATORY FINDINGS IN ACUTE KAWASAKI DISEASE

Leukocytosis with neutrophilia and immature forms Thrombocytosis after week 1 Elevated ESR & CRP Elevated serum transaminases Elevated serum GGT Anemia Abnormal plasma lipids Hypoalbuminemia Hyponatremia Sterile pyuria Pleocytosis of cerebrospinal fluid

a1-antitrypsin deficiency

Liver disease due to accumulation of an abnormal protein[ single amino-acid substitution chromosome 14] # sxs: Infant: cholestasis: bleeding into: CNS, GI or umbilical stump. ↑ transaminase #sxs: childhood: chronic hepatitis, cirrhosis or portal HTN

Acute diarrhea

Loss stool of>10ml/kg/day infant AND Loss stool of>200g/24Hr in older kids which lasts <14days

The most common small bowel malignancy in the pediatric age group

Lymphoma ! 3 subtypes of Malignant lymphoma: 1)Burkitt lymphoma: the MC form in children[ terminal ileum] 2)Non-Hodgkin lymphoma 3) Mediterranean lymphoma

children travel to area of chloroquine- resistant P. Falciparum can get:

Mefloquine Atovaquone Proguanil Doxycycline [if age>18yr] as malaria prophylaxis

Long-term sequela of CKD

Metabolic Acidosis present in all Pt's with CKD [ due to ↓↓↓acid excretion by the failing kidneys] >> Growth Failure in children >> Short Stature # Pt's have: ↑GH level BUT ↓Insulin-like-growth-factors

Neonate syndrome: Zika virus

Microcephaly Lissencephaly Cerebellar Hypoplasia Akinesia syndrome Macular scarring Retinal mottling Subcortical calcifications Hypertonia

Patau syndrome [ trisomy 13 ]

Microcephaly , cutis aplasia of scalp, cardiac defect , coloboma , holoprosencephaly , cleft-lip/palate

Pierre Robin Syndrome

Micrognathia Cleft palate Airway Obstruction

Pierre Robin syndrome

Micrognathia[mandibular hypoplasia], Arched or Cleft Palate and Airway Obstruction- inspiration [ tongue drops back (Glossoptosis)] * Tongue is usually of Normal size * Maintained infant in a Prone position * Tracheostomy * Mandibular Distraction procedures

Laboratory Clues in Toxicologic Diagnosis [Hypoglycemia]

Mnemonic "HOBBIES" Hypoglycemics, oral: Sulfonylureas, Meglitinides Other: Quinine Beta Blockers Insulin Ethanol Salicylates (late)

Laboratory Clues in Toxicologic Diagnosis [Radiopaque substance on KUB]

Mnemonic: "CHIPPED" Chloral hydrate, Calcium Carbonate Heavy metals (lead, zinc, barium, arsenic, lithium, bismuth) Iron Phenothiazines Play-Doh, Potassium Chloride Enteric-coated pills Dental amalgam, Drug packets

Laboratory Clues in Toxicologic Diagnosis [Anion-gap Metabolic Acidosis]

Mnemonic: "MUDPILES CAT" Methanol, Metformin Uremia Diabetic ketoacidosis Propylene glycol Isoniazid, Iron, Ibuprofen Lactic acidosis Ethylene glycol Salicylates Cellular Asphyxiants (Cyanide, CO, Hydrogen sulfide) Alcoholic Ketoacidosis Tylenol (clinical significance depends upon presence or absence of liver injury

Neurofibromatosis type 1

Mnemonic: CAFE-SPOT C- cafe au lait spots [Hallmark~100% of cases] A- axillary and inguinal freckle F- fibromas E- eye: lisch nodule S-scoliosis P-pseudo-arthrosis of tibia O-optic glioma T-tumors: peripheral nerve sheath # nervous system tumors, breast cancer, leukemia, pheochromocytoma # Autosomal dominant , risk of HTN due to renal vascular stenosis OR pheochromocytoma

Diagnostic Criteria for Functional Dyspepsia

Must include 1 or more at least 4 days/mon: 1) Postprandial fullness 2) Early satiation 3) Epigastric pain or burning NOT with defecation 4) After appropriate evaluation, the symptoms canNOT be fully explained by another medical condition.

Diagnostic Criteria for Functional Diarrhea

Must include all of the following: 1) Daily painless, recurrent passage of 4 or more large, unformed stools 2.) Symptoms last more than 4 wk 3) Onset between 6 and 60 mon of age 4) No failure to thrive if caloric intake is adequate

Congenital Adrenal Hyperplasia (CAH) diagnosis

More than 90% of CAH cases are caused by 21-hydroxylase deficiency Diagnosis of 21-hydroxylase deficiency is Most reliably established by measuring>> ↑↑17-Hydroxyprogesterone before and 30 or 60 min after IV bolus of Cosyntropin

Idiopathic Hypoparathyroidism

Muscular pain and Cramps [Early sxs]>> Nnumbness, Stiffness, and Tingling [hands& feet] Positive Chvostek or Trousseau sign or Laryngeal and Carpopedal Spasms. Convulsions # Associated with: Autoimmune Diseases # Dx: PTH: ↓ Calcium: ↓ (5-7 mg/dL) Ionized Calcium: ↓ Phosphorus: ↑ (7-12 mg/dL) 1,25(OH)2D3: ↓ ALP: normal or ↓ magnesium: normal ECG: QT-prolongation # Tx: for Tetany>> IV Calcium Gluconate * Foods with High Phosphorus: milk, eggs and cheese should be Reduced in the Diet

Diagnostic Criteria for Functional Constipation

Must include 1 mon of at least 2 of the following in infants up to 4 yr of age: 1) Two or fewer defecations per week 2) History of excessive stool retention 3) History of painful or hard bowel movements 4) History of large-diameter stools 5) Presence of a large fecal mass in the rectum

MELAS

Myopathy Encephalopathy Lactic Acidosis Stroke-like episodes

Respiratory Distress

Nasal Flaring Tachypnea Chest wall retractions Stridor Grunting Dyspnea Wheezing

Panhypopituitarism

Neonatal Hypoglycemia Hyperbilirubinemia Micropenis [a.k.a Microphallus] # Deficiency in: ACTH or GH or GNRH or TSH # In Newborn Period: Hypoglycemia present as feature of Hypopituitarism [Hepatitis associated with Cholestatic Jaundice and Hypoglycemia] * Jaundice Resolves with: GH, Cortisol and Thyroid # Congenital: Normal Size and Weight at Birth. Frontal Bone: Prominent, Nose Bridge depressed, Saddle and Small. Mandible and Chin are Underdeveloped High-Pitched Voice

Maternal diabetes increases the risk for:

Neonatal Hypoglycemia Hypocalcemia Respiratory Distress Syndrome [RDS] Feeding Difficulties Polycythemia Macrosomia Growth Restriction Myocardial Dysfunction Jaundice Congenital Malformations. #There is an increased risk of Uteroplacental Insufficiency, Polyhydramnios and Fetal Demise in Uncontrolled Diabetic Mothers

Small round blue cell tumors

Neuroblastoma Ewing sarcoma Rhabdomyosarcoma Non-Hodgkin lymphoma

Laboratory Clues in Toxicologic Diagnosis [Rhabdomyolysis]

Neuroleptic Malignant Syndrome Serotonin Syndrome Statins Mushrooms (Tricholoma equestre) Any toxin causing prolonged immobilization (e.g., Opioids, Antipsychotics) or excessive muscle activity or Seizures (e.g., Sympathomimetics) # Rhabdomyolysis: The MC Complication of Hypophosphatemia BUT Alcoholism is The MC Cause of Severe Hypophosphatemia

Age Category

Newborn 0-2mon Infant 2-12mon Toddler 1-2yr Preschool 3-5yr Middle school 6-12yr Adolescent 13-18yr Perinatal Period: 28wk (gestation)-> post-labor 7day Neonatal Period: birth->28 day of life

Amanita poisoning

Oral activated charcoal is recommended as part of the initial treatment!

Anemia of Chronic Disease [ACD]

Normochromic and Normocytic Absolute Reticulocyte: Normal or Low Leukocytosis: Common Serum Iron: Low [withOUT ↑serum Transferrin] ↑Hepcidin * Low serum Iron and Low serum Transferrin is Valuable Diagnostic Feature * serum Ferritin: elevated secondary to Inflammation. # Soluble Transferring Receptor (sTfR) is Diagnostic Test used to Distinguish ACD from Iron-Deficiency Anemia (IDA) ** sTfR: High in IDA and Normal in ACD. **The Bone Marrow has Normal Cellularity # Tx: Erythropoietic stimulating agents (ESA): EPO and Iron

The MC affected area by Candida in infant<6mon of age:

Oral mucous membrane infections (thrush) and Perineal skin infections (Candida diaper dermatitis)

Cushing Syndrome - Early Manifestation:

Obesity and Decelerations or Cessation of Growth [ Short Stature]

The MC Form of Biliary Atresia:

Obliteration of the entire extrahepatic biliary tree at or above the porta hepatis

Chédiak-Higashi syndrome

Oculocutaneous Albinism Nystagmus Recurrent Bacterial Infections Peripheral Neuropathies Hemophagocytic Syndrome

Renal agenesis, Potter syndrome

Oligohydramnios Anuria Pulmonary hypoplasia Pneumothorax

Which tests is the Gold Standard for diagnosing a suspected IgE-mediated food allergy

Oral Food Challenge

1st line for gastritis and PUD in kids:

PPI[ omeprazole] and H2 blocker[ cimetidine]

Early Childhood Risk Factors for Persistent Asthma

Parental asthma [Major] Atopic dermatitis (eczema) [Major] Inhalant allergen sensitization [Major] Allergic rhinitis [Minor] Wheezing apart from colds [Minor] Eosinophilia>4% [Minor] Food allergy Food allergen sensitization Pneumonia Bronchiolitis requiring hospitalization Male gender Low birthweight Environmental tobacco smoke exposure Reduced lung function at birth Formula feeding rather than breastfeeding

Treatment of neonatal syphilis :

Penicillin G !!! *In penicillin-allergic Pt's>> Desensitize and give Penicillin # Jarisch-Herxheimer reaction (caused by massive release of endotoxin-like antigens during bacterial lysis) occurs in 15-20% of Pt's with acquired or congenital Syphilis Treated with Penicillin. It is NOT an indication for discontinuing penicillin therapy!!!

Severe Combined Immunodeficiency (SCID)

Persistent thrush Failure to thrive Pneumonia Diarrhea # During 1st yr of life look for: Diarrhea, FTT, Generalized Scaling Rash and Recurrent Cutaneous and/or Systemic Infection

Mutations in JAK2 are associated with:

Polycythemia Vera and Essential Thrombocytosis

Intestinal obstruction: volvulus, duodenal atresia, ileal atresia

Polyhydramnios Bile-stained emesis Abdominal distention Suspect trisomy 21 Cystic Fibrosis Cocaine use

Myoglobinuria (Rhabdomyolysis)

Positive Hb on dipstick & NO RBC represent Myoglobinuria-Rhabdomyolysis followed by myoglobinuria which can cause Acute Renal Failure -> Confirm by Elevated Creatinine Kinase levels AMBOSS: 1) Blood: ↑CK, ↑Potassium, ↑Phosphate, ↑LDH, ↑Myoglobin ↓Calcium * In the case of AKI: ↑BUN and ↑Creatinine 2) Urine: Myoglobinuria Low fractional excretion of sodium

Diagnostic Criteria for Cystic Fibrosis (CF)

Presence of typical clinical features (respiratory, gastrointestinal, or genitourinary) OR Hx of CF in a sibling OR Positive newborn screening test PLUS Laboratory evidence for CFTR (CF transmembrane regulator) dysfunction: Two elevated sweat chloride concentrations obtained on separate days OR Identification of two CF mutations OR An abnormal nasal potential difference measurement

stages of growth

Preterm: birth<37wk of gestation Neonate/Newborn: birth-1month Infant: 1month-12month Toddler: 1year-3year child: 3year-12year adolescent: 12year-18year

Which​ ​presenting​ ​symptom​ ​in​​ ​most​ of the ​patients​ ​diagnosed​ ​with​ ​bacterial​ ​endocarditis​ ​due​ ​to Streptococcus​ ​Viridans?

Prolonged Unexplained Fever

Orbital abscess/ orbital apex syndrome

Purulent collection within orbit Proptosis and Chemosis Ophthalmoplegia Pain on extraocular muscle movement Decreased vision Fever and malaise

Definitions regarding the response to Steroid therapy in Nephrotic Syndrome:

Response: the attainment of remission within the initial 4 wk of Corticosteroid Tx Remission: Urine protein:creatinine ratio of < 0.2 or < 1+ protein on urine dipstick testing for 3 consecutive days. Most children with minimal change disease respond to daily prednisone therapy fairly quickly, within the first 2-3 wk of Tx Relapse: Increase first morning urine protein:creatinine ratio > 0.2 or a reading of 2+ and higher for 3 consecutive days on Albustix testing Frequently Relapsing: two or more relapses within 6 mon after the initial Tx or 4 relapses in a 12-mon period Steroid Dependent: relapse during steroid tapering or a relapse within 2 wk of the discontinuation of therapy. Steroid Resistance: The inability to induce remission within 4 wk of daily steroid therapy.

Which is the MC pediatric cardiac tumor:

Rhabdomyomas * Associated with Tuberous Sclerosis in 70-95% of cases

Bronchoscopy

Rigid bronchoscopy-for extracting foreign bodies and removing tissue masses. It is also indicated in patients with massive hemoptysis. In other cases, the Flexible scope has multiple advantages: it can be passed through endotracheal or tracheostomy tubes, can be introduced into bronchi that come off the airway at acute angles, and can be safely and effectively inserted with topical anesthesia and conscious sedation.

Heart Sounds:

S1- Apex S2- Upper R/L sternal border * splitting S2 ↑in Inspiration and ↓in Expiration * normally split S2-> you can Rule out: ASD, Defects associated with Pulmonary HTN, Severe Pulmonary Stenosis, Aortic and Pulmonary Atresia and Truncus Arteriosus! *Wide split S2: ASD, Pulmonary Stenosis, Ebstein anomaly, TAPVR and RBBB * Due to: prolonged RV ejection and increased PA capacitance, which delay pulmonary valve closure * Accentuated Pulmonic P2 with Narrow Splitting S2: Pulmonary HTN * Single S2: Pulmonary or Aortic Atresia or Severe Stenosis or Truncus Arteriosus S3- Apex , mid-Diastole S4- Before S1 , late-Diastole Aortic ejection Click- Right Upper sternal. when Aortic Stenotic or Aorta Dilated: TOF and Truncus Arteriosus Pulmonary ejection Click- Left Upper sternal. Pulmonic Stenosis * mid-Systolic Click- Apex, Mitral Valve Prolapse

Trichomonas vaginalis

STI, protozoa # pruritus , frothy , green vaginal discharge #dyspareunia

Laboratory Clues in Toxicologic Diagnosis [Hyperglycemia]

Salicylates (early) Calcium channel blockers Caffeine

"Strawberry tongue"

Scarlet fever and Kawasaki disease

Type II autoimmune polyendocrinopathy (APS-2)

Schmidt Syndrome: APS-2 consists of Addison disease associated with Autoimmune Thyroid Disease Carpenter syndrome: T1DM

Neonate syndrome: HIV

Severe Thrush Failure To Thrive Recurrent bacterial infections Calcification of basal ganglia

contraindication to closure of a VSD

Severe pulmonary vascular disease Non-responsive to pulmonary vasodilators

Indications for Myringotomy and Tympanocentesis in children with AOM

Severe, refractory pain Hyperpyrexia Facial paralysis Mastoiditis Labyrinthitis CNS infection Immunologic compromise from any source # It's third-line therapy in patients that have failed two courses of antibiotics for an episode of AOM # Tympanocentesis with culture of the middle-ear aspirate may also be indicated as part of the sepsis work-up in very young infants with AOM who show systemic signs: fever, vomiting, or lethargy, and whose illness accordingly cannot be presumed to be limited to infection of the middle ear !

Bloom Syndrome

Short Stature Photosensitive Telangiectatic Erythema # AML, ALL, MDS, Lymphoma and Solid tumors # Growth Deficiency, Malar Rash # Autosomal Recessive

Williams Syndrome

Short Stature , Blue Irides , # Cardiac lesions: supravalvular aortic stenosis, peripheral pulmonic stenosis, aortic hypoplasia, coronary artery stenosis, and ASD or VSD # Infantile Hypercalcemia >>Nephrocalcinosis # Friendly altitude-"cocktail party" personality # Elfin facies (small mandible, prominent maxilla, upturned nose) # Subclinical Hypothyroidism [NO Thyroid antibodies!]

Neonatal Conjunctivitis Causes:

Silver Nitrate drop: 6-12 hr after birth, clear by 24-48hr Neisseria Gonorrhea: 2-5 days Chlamydia trachomatis: 5-14 days

Opsoclonus-myoclonus-ataxia syndrome treatment

Steroids IVIG Rituximab # rapid, uncontrollable jerking eye and body movements, poor coordination, and cognitive dysfunction. #paraneoplastic syndrome of autoimmune origin termed opsoclonus-myoclonus-ataxia syndrome # "dancing eyes-dancing feet" #Opsoclonus with epileptic myoclonus has also been described in a child with glucose transporter-1 deficiency (GLUT1).

What is a stool reducing substances test?

Stool (or fecal) reducing substances is a stool sample test used to diagnose lactose intolerance (and some rare metabolic abnormalities). Test results: Negative - this is the normal result and means that the body is digesting and absorbing sugars properly Positive - this means there are substances in the stool that can act as 'reducing agents', i.e. there are forms of sugar in the stool that have not been absorbed by the body

The hallmark of enterovirus D70

Subconjunctival Hemorrhage (>70% of cases)

Contraindicated Drug for Myasthenia Gravis:

Succinylcholine Pancuronium Aminoglycosides [ex: Gentamicin]

In iron-deficiency anemia, when do you switch from Oral iron to Parenteral [IV] iron ?

Switching from Oral to Parenteral iron intake ONLY when Malabsorption is present OR when compliance is poor. [Iron deficiency persist despite adequate Tx / Unable to tolerate oral iron]

the MC cyanotic type of CHD

TOF

Signs of cardiogenic shock

Tachypnea Cool extremities Delayed capillary filling time Poor peripheral and/or central pulses Declining mental status Decreased urine output [due to ↓CO and compensatory peripheral vasoconstriction]

Neonatal Screening for Hyperphenylalaninemia

Tandem Mass Spectrometry

Spatula Test

Test of Tetanus where the posterior pharyngeal wall is touched: Positive- if reflex spasm of the masseter and bite Negative- if Gag reflex

Vesicoureteral Reflux [VUR]

The 1st Sign in babies having this anomaly is UTI(due to reflux+ stasis of urine)

Hemangiomas:

The MC Benign Tumors of Infancy

tinea capitis

The affected areas of scalp are scaly and itchy compared to the smooth hair loss of alopecia

Lecithin-Sphingomyelin Ratio (a.k.a. L-S or L/S ratio) Test of Fetal Amniotic Fluid:

To Assess Fetal Lung Immaturity # Lechitin to Sphingomyelin Ratio should be 2:1 Indicating a Mature Lung Function! # Congenital Alveolar Proteinosis: * Congenital Surfactant protein B Deficiency * rare, severe RDS in TERM infants! # check Lecithin:Sphingomyelin ratio for Dx of Surfactant Deficiency

The only curative treatment for PFAPA (periodic fever, aphthous stomatitis, pharyngitis and adenitis)?

Tonsillectomy

Posterior Uveitis Causes:

Toxoplasmosis Toxocariasis Tuberculosis Sarcoidosis Cat-scratch disease Viral (rubella, HSV, HIV, CMV)

Painless Thyroiditis (Silent Thyroiditis)

Transient Thyrotoxicosis>> followed by Hypothyroidism and then Recovery. # Accounts for 1-5% of cases of Thyrotoxicosis # Can Occur in Postpartum Period

Glycogen storage disease

Type 1: present at 3-4mon Hypoglycemic Seizures and Lactic Acidosis Hepatomegaly # Doll-like faces: fat cheeks, thin extremities, short stature, and protuberant abdomen # Hallmark: Hypoglycemia, Lactic acidosis, Hyperuricemia and Hyperlipidemia

Acetaminophen Over dosage

Treatment includes: 1)gastric lavage - NO longer recommended ! 2)supportive measures 3)activated charcoal - within 1hr of ingestion 4)cholestyramine to prevent absorption of residual drug # Acetaminophen Toxicity remains The MC cause of Acute Liver Failure and is the leading cause of intentional poisoning death # Check Acetaminophen level 4hr after Ingestion # If Acetaminophen level at 4hr after Ingestion >200 OR >100 at 8hr after ingestion ->> Give Acetylcysteine To Reduces the Severity of Hepatic Necrosis # The King's College Criteria are used to determine which Pt's should be referred for consideration of liver transplantation: 1) Acidemia (serum pH <7.3) after Fluid Resuscitation 2) Coagulopathy (INR >6) 3) Renal Dysfunction (Creatinine >3.4 mg/dL) 4) Grade III or IV Hepatic Encephalopathy * serum Lactic Acid >3 mmol/L (after IV fluids) add sensitivity! * Transaminase is NOT Factor! # Alkalinization of the urine is Most useful in managing Salicylate and Methotrexate toxicity

Orellanine poisoning

Treatment is supportive. Early presentation, within 4-6 hr after ingestion, can be treated with activated charcoal and gastric lavage

Causes of Hyperphosphatemia

Tumor lysis syndrome Rhabdomyolysis Acute hemolysis Diabetic ketoacidosis Lactic acidosis Enemas and Laxatives Cow's milk in infants Vitamin D intoxication Renal failure Hypoparathyroidism Acromegaly Hyperthyroidism

Classification Criteria for Henoch-Schönlein Purpura [ american]

Two of the following criteria must be present: • Palpable purpura • Age at onset ≤20 yr • Bowel angina (postprandial abdominal pain, bloody diarrhea) • Biopsy: intramural granulocytes in small arterioles

Ureteropelvic Junction (UPJ)

UPPER abdominal mass palpable

UTI diagnosis:

UTIs may be suspected based on symptoms or findings on Urinalysis, or both: 1) Nitrites and leukocyte esterase 2) Microscopic hematuria: common in acute cystitis, WBC casts in the urinary sediment suggest renal involvement 3) Pyuria (leukocytes on urine microscopy) 4) Sterile pyuria (positive leukocytes, negative culture) may occur in: partially treated bacterial UTIs viral infections urolithiasis renal tuberculosis renal abscess UTI in the presence of urinary obstruction urethritis as a consequence of a STD inflammation near the ureter or bladder (appendicitis, Crohn disease) Kawasaki disease schistosomiasis neoplasm renal transplant rejection interstitial nephritis (eosinophils). # Urine Culture is necessary for confirmation and appropriate therapy !!!

Toxoplasma gondii

Usually acquired orally by: eating undercooked OR raw meat that contains cysts or food OR material contaminated with oocysts from acutely infected cats

Late deceleration:

Uteroplacental insufficiency .decrease fetal HR after contraction, start and end after contraction end

the MC CHD:

VSD -30% of cases

X-linked lymphoproliferative syndrome [XLP]

X- linked recessive trait characterized by an inadequate immune response to infection with: EBV

Daily maintenance fluids:

[100ml /first 10kg] + [50ml/second 10kg] + [20ml/each additional kg] for exp: 22kg child: [100mlx10] +[ 50mlx10] +[ 20mlx2] =1540ml/day # per hour can divide by 24hr OR 4-2-1 rule [4mlx10] + [2mlx10] + [1mlx2] =62ml/hr # For each 100ml of fluid -> add 3mEq Na and 2mEq K and dextrose for exp: 3*[1540ml/100] = 46Na 2*[1540ml/100] = 31K

Dysplesia of the hip [ Barlow and Ortolani POSITIVE]

age: <4wk - reexamine after few wks before Tx decision <6mon -Pavlik Harness 6mon to 2yr - close reduction 2yr to 6yr- open reduction

ototoxicity & hearing loss are side effect of

aminoglycosides

wide pulse pressure with bounding pulses

aortic runoff lesion such: patent ductus arteriosus aortic insufficiency arteriovenous communication increased cardiac output secondary to anemia, anxiety, or conditions associated with increased catecholamine or thyroid hormone secretion.

gardanella vaginalis

bacterial vaginosis gray-white discharge: fish odor #Dx: clue cells with positive whiff test[ KOH]

Riboflavin (Vitamin B2) deficiency

cheilosis, glossitis, keratitis, conjunctivitis, photophobia, lacrimation, corneal vascularization, and seborrheic dermatitis

Large VSD

chest x-ray: cardiomegaly with prominence of both ventricles, the left atrium, and the pulmonary artery ↑↑Pulmonary vascular markings Frank Pulmonary Edema Pleural Effusions ECG: biventricular hypertrophy; P waves may be notched or peaked. - Pt's have risk to develop aortic regurgitation and acquired infundibular pulmonary stenosis

Maternal lithium side effect:

child increase risk for : Ebstein anomaly > atrialized right ventricle

therapeutic approach to patients with presumed bacterial meningitis depends on the nature of the initial manifestations of the illness:

child with rapidly progressing disease of less than 24 hr duration, in the ABSENCE of ↑ICP, should receive antibiotics as soon as possible after an LP is performed. BUT If there are signs of increased ICP or focal neurologic findings, antibiotics should be given without performing an LP and before obtaining a CT scan. # Increased ICP should be treated simultaneously !

First sign of dehydration

children : TACHYCARDIA adult : HYPOTENSION

Acrocyanosis

common and harmless condition in newborn leading to cyanosis of hands and feet bcz cold Tx: keep the infant warm

fetal hydantoin syndrome:

due to mother take anti-epileptic in pregnancy

Myotonic Dystrophy

facial plegia difficult sucking and swallowing diagnosis: examination of both parents for percussion and grip myotonia, EMG

Sinusitis

fever, headache or facial pain, or periorbital edema or persistence of rhinorrhea or cough for longer than 10-14 days

Down syndrome [ Trisomy 21]

hypotonia , epicanthal folds , simian crease , cardiac ( VSD , AV canal) mental retardation , risk for leukemia

Uncontrolled maternal hypothyroidism or hyperthyroidism is responsible for:

infertility spontaneous abortion premature labor fetal death. #Hypothyroidism in pregnant women (even if mild or asymptomatic) can adversely affect neurodevelopment of the child, especially if the newborn is found to have congenital hypothyroidism

which toxin poisoning cause constipation:

lead

Dyscalculia

problem with perception of shape difficulty with simple mathematical functions

asymptomatic isolated microscopic hematuria that persists on at least 3 urinalyses

urine culture >>spot urine for hypercalciuria with a calcium : creatinine ratio in culture-negative patients

HSV

vesicular, genital lesion erythematous base, painful, tender , inguinal lymphadenopathy low-grade fever, myalgia

HPV

viral STI, genital warts can lead to cancer: vulva, cervix and penis

atypical mycobacterium lymphadenitis [Non-TB OR NTM]

• Chronic cervicofacial lymphadenitis in children (1-5 years) • Usually unilateral, occurring in the submandibular or preauricular area • The LN suppurate and form a chronic sinus tract --> surgical excision! * otherwise: Clarithromycin or Azithromycin combined with Rifabutin or Ethambutol * Non-tender mass, overlying skin is erythematous, and purulent drainage.

Atypical absence seizures

• Myoclonic components and tone changes of the head (head drop) and body • More difficult to treat. • Drowsiness • EEG: 1- to 2-Hz spike-and-slow-wave discharges.

Absence seizures (petit mal)

• Sudden cessation of motor activity or speech with blank stare and flickering eyes • More in girls • Age 5-8 Y/O • No aura; usually <30 seconds; • No postictal period • Simple automatisms such as lip smacking • Hyperventilation for 3-5 min can precipitate the seizures • EEG: 3-Hz spike-and-slow-wave discharges • Tx: Ethosuximide (drug of choice), Valproic acid OR Lamotrigine (alternative) * Jeavons syndrome: presence of eye closure eyelid myoclonia

Lack of splenic function, not asplenia, would lead to:

↑↑number of RBC pits

Diseases for which liver transplantation is indicated

◆ Obstructive biliary tract disease: biliary atresia, sclerosing cholangitis, traumatic or postsurgical injury ◆ Metabolic disorders: α1-antitrypsin deficiency, tyrosinemia type I, glycogen storage disease type IV, Wilson disease, neonatal hemochromatosis, Crigler-Najjar type I, familial hypercholesterolemia, primary oxalosis, organic academia, urea cycle defects ◆ Acute hepatitis: fulminant hepatic failure, viral, toxin, or drug induced ◆ Chronic hepatitis with cirrhosis: hepatitis B or C, autoimmune ◆ Intrahepatic cholestasis: idiopathic neonatal hepatitis, Alagille syndrome, progressive familial intrahepatic cholestasis ◆ Miscellaneous: cryptogenic cirrhosis, congenital hepatic fibrosis, Caroli disease, cystic fibrosis, polycystic kidney and liver disease, cirrhosis induced by total parenteral nutrition ◆ Primary liver tumors: benign tumors (hamartomas, hemangioendothelioma), unresectable hepatoblastoma, and hepatocellular carcinoma ◆ Emerging indications: graft-versus-host-disease (a complication of bone marrow transplantation), hemophilia, and portosystemic shunts Biliary atresia ### Biliary atresia is the MC indication for liver transplantation in children, followed by metabolic and inborn disorders, autoimmune and familial cholestatic disorders, and acute hepatic necrosis.