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A 15-year-old girl presents with palpitations and nervousness. She is frequently tired and has lost some weight. She complains that she always feels hot and sweaty. Sometimes she feels shaky. Her father notes that she has a "funny look" with her eyes wide open. What is the most likely diagnosis?

Hyperthyroidism* In children, most cases of hyperthyroidism are from Graves disease (antibodies to the TSH receptor) Clinical Findings: Goiter Exophthalmos Tachycardia Widened pulse pressure Systolic hypertension Weakness Smooth, moist, warm skin Diagnostic Test Findings: Low TSH Thyroid hormone levels are elevated Deferential Diagnosis: Severe anemia Pheochromocytoma Chronic infection Treatment: Treat tachycardia with β-blockers (atenolol is preferred). This will also help nervousness, tremor, and palpitations Antithyroid agents: PTU or methimazole Radioablation of thyroid for children who do not respond to antithyroid medications, have adverse effects to the medications, have adverse effects to the medications, or fail to achieve remission after several years of treatment Surgical treatment (subtotal or total thyroidectomy) is not common in children Prognosis: 1/3 of cases of Graves disease resolve, 1/3 are persistent, 1/3 are intermittent Pearl: If hyperthyroidism is suspected, check blood pressure and heart rate and, if needed begin atenolol or propranolol for symptom management until they can be seen by an endocrinologist

A 5-year-old girl is seen in the outpatient clinic with multiple superficial vesicles and pustules on her face, some of which have coalesced. There are areas that are weeping, while others have a yellowish crust. What is the most likely diagnosis?

Impetigo * Clinical Findings: Erosions covered by honey-colored crusts Diagnostic Test Findings: Staphylococci and group A Streptococci are the common pathogens Laboratory testing is usually not done Deferential Diagnosis: Herpes Simplex Virus, Eczema Treatment: Topical mupirocin and fusidic acid (3 times daily) are effective mild cases Oral antibiotics effective against Staphylococcus aureus for 7 to 10 days should be used for moderate to severe cases Prognosis: Bullous impetigo: includes a border filled with clear fluid in addition to the erosions with honey colored crusts. Common location is in the diaper area. Treat with 7 to 10 days of oral antibiotics with Staphylococcal coverage

A 17-year-old girl presents with fever, sore throat, eyelid edema, malaise x 2 weeks, tender cervical adenopathy, hepatosplenomegaly, and maculopapular rash after receiving antibiotics for presumed Strep pharyngitis. What is your diagnosis?

Infectious mononucleosis * Clinical Findings: Most cases atypical (only 20-25% of adolescents have typical symptoms) 1- to 2-month incubation, 2- to 3-day prodrome Malaise Anorexia Fever >39°C Exudative pharyngitis 50%, soft-palate petechiae Enlarged lymph nodes, firm tender especially anterior/posterior cervical nodes Splenomegaly 50% to 75% Hepatomegaly 30% Morbilliform rash following administration of ampicillin Eyelid edema Diagnostic Test Findings: Leukopenia, atypical lymphocytosis Heterophile antibody—90% in older patients, <50% in less than 5 year old Anti-EBV Ab-IgM to viral capsid antigen, fall in IgG anti-VCA titre EBV PCR for central nervous system or ocular symptoms Deferential Diagnosis: Strep pharyngitis, herpes Simplex, rubella, adenovirus, hepatitis A or B, toxoplasmosis, serum sickness, leukemia, CMV, HIV Treatment: Supportive care, bed rest, acetaminophen, corticosteroids, for airway obstruction Prognosis: Hematologic/neurologic complications Fatigue/malaise x months No contact sports 6 to 8 weeks (avoid splenic rupture)

A 5-year-old girl presents with fever, chills, runny nose, sore throat, cough, myalgia, and headache. What is your diagnosis?

Influenza * Clinical Findings: PGE1 initially to maintain patent ductus arteriosus Surgical procedures: Airborne transmission, 2- to7-day acute illness Coryza Cough Fever, chills Severe myalgia Pharyngitis Vomiting/diarrhea/abdominal pain Croup Transient maculopapular rash Complications include asthma exacerbation, myositis, myocarditis, parotitis, encephalopathy, nephritis Diagnostic Test Findings: Nasopharyngeal swab for direct fluorescent antibody staining Chest x-ray: nonspecific Deferential Diagnosis: Other respiratory viruses (parainfluenza, respiratory syncytial virus) Mycoplasma pneuomiae/Chlamydia Strep pharyngitis Bacterial sepsis Toxic shock Rickettsial disease Treatment: Antivirals in 48 hours—amantadine, rimantadine Bacterial superinfection—middle ear, sinus, ling Prognosis: Good, complete recovery if no cardiopulmonary or neurologic damage Fatal cases if immunodeficiency or anatomically compromised children

A 16-year-old girl with known peanut allergy develops an itchy rash, swollen lips and tongue, and difficult breathing after eating some food at a party. Choose the incorrect treatment

Inhaled corticosteroids * Life-threatening syndrome occurring after exposure to an allergen to which the patient has been previously sensitized. Clinical Findings: Generalized pruritus Urticaria Angioedema Swollen lips, tongue, uvula Wheezing, dyspnea Persistent crampy abdominal pain, vomiting Hypotension Shock Diagnostic Test Findings: Typtase may be elevated Elevated hematocrit (due to hemoconcentration) If myocardial involvement: elevated serum CK, AST, LDH Arterial blood gas may show hypoxmia, Hypercapnia acidosis Differential Diagnosis: Other causes of shock, respiratory failure in setting of asthma, mastocytosis, hereditary angioedema, vasovagal reactions, vocal cord dysfunction, and anxiety attack Treatment: ABCs (airway patency, blood pressure, and pulse) Oxygen Epinephrine is treatment of choice Diphenhydamine and ranitidine Fluids for treatment of persistent hypotension Bronchodilators may help with bronchospasm Corticosteroids can prevent diphasic anaphylaxis Vasopressors if hypotension is refectory to epinephrine Prognosis: Can be fatal Pearl: Observe for 4 to 6 hours as biphasic reactions can occur in up to 20% of anaphylaxis cases

A 3-year-old girl is brought in because she has a fever and is refusing to bear weight on her right leg. There has been no known trauma. On examination, she has marked tenderness over the tibial metaphysis, her laboratories reveal an elevated blood count and inflammatory markers. What is the best imaging study to diagnose this condition?

MRI* Osteomyelitis is an infection in the bone that begins in spongy or medullary bone and then extends into compact or cortical bone. In children, it is most commonly caused by hematogenous spread. It can also be the result of exogenous factors, such as a penetration wound or open fracture. Clinical Findings: Severe local tenderness and pain Fever In infants, presentation may be subtle, with irritability, poor feeding, and pseudoparalysis of affected limb Diagnostic Test Findings: Elevated white blood cells count Elevated ESR and CRP Aspiration of metaphysic for culture and gram stain may reveal the organism MRI can demonstrate early edema and subperiousteal abscess (imaging of choice) Bone scan is sensitive but nonspecific Plain films may be normal early. After a few days, findings may include nonspecific local swelling, elevation of periosteum, and ultimately formation of new bone Treatment: IV antibiotics initially, then transition to oral Antimicrobials should have Staphylococcus aureus and Streptococcus pyogenes coverages (oxacillin, nafcillin, cefazolin, clindamycin) Prognosis: excellent when treated in early stages Pearl: children with sickle cell anemia are prone to osteomyelitis caused by Salmonella

A 3-year-old girl has a large head circumference but otherwise normal exam and is developmentally normal. What is your diagnosis?

Macrocephaly* Clinical Findings: Head circumference 2 standard deviations from the mean for age and sex Diagnostic Test Findings: Transillumination of skull Fontanelle open cranial ultrasound CT/MRI to assess ventricular size or to identify operable disorder Deferential Diagnosis: Familial Increased intracranial pressure Hydrocephalus Neurofibromatosis or other neurocutaneous dysplasias Subdural effusions Hydranencephaly Cystic defects Cerebral gigantism Treatment: Surgery Prognosis: Excellent for benign familial macrocephaly Prognosis depends on the cause

A 3-year-old on amoxicillin for otitis media presents with continued fever and swollen, tender, reddened area behind her pinna. What is your diagnosis?

Mastoiditis * Clinical Findings: Postauricular pain with acute otitis media Swollen, reddened, tender even fluctuant mastoid area Outwardly displaced pinna Fever Diagnostic Test Findings: CT scan CBC, ESR Deferential Diagnosis: Significant external otitis media Parotitis Postauricular adenopathy Cellulitis Branchial cleft anomaly Neoplasm Treatment: Myringotomy with tube Intravenous antibiotics Ofloxacin topical eardrops Surgical drainage/cortical mastoidectomy(39%) Prognosis: Good for full recovery Complications include meningitis, sigmoid sinus thrombosis, facial nerve palsy, epidural or frontal brain abscess

Mother calls on postpartum day 4 and reports severe swelling and pain of her breasts bilaterally. Infant is fussy and not wanting to breastfeed. What is your diagnosis?

Maternal Breastfeeding: Engorgement* Clinical Findings: Full/hard/painful breasts of mother when milk is not removed for long intervals Infant with latch difficulty or too sleepy at breast Diagnostic Test Findings: None Differential Diagnosis: Plugged duct if cord of tissue is palpable and pain more localized Treatment: Assistance with infant latch Frequent milk removal by infant or mechanical pump Cold compresses Ibuprofen for pain control Prognosis: poorly managed engorgement can lead to decreased milk supply

A 12-year-old girl presents with recurrent unilateral headaches that are associated with photophobia and a prodrome. What is your diagnosis?

Migraine Headache* Clinical Findings: Acute onset, paroxysmal headache pain Symptom free intervals Prodrome or aura Intense, pulsatile Photophobia Unilateral in older children (70%) Usually forehead area, in or behind one or both eyes 6 to 10 range of severity Family history is positive for 75% Diagnostic Test Findings: None Deferential Diagnosis: Tension Traction due to increased intracranial pressure Treatment: Ibuprofen Caffeine Caffeine-ergotamine combination Isometheptene (midrin) Triptans in older kids Prophylaxis with propranolol, amitriptyline, cyproheptadine, valproate, topiramate Nonpharmacologic Prognosis: Good Pearl: In children, migraines can present as a bilateral headache

A 6-month-old male infant with a strong family history of allergies and asthma is being evaluated for a chronic rash on his cheek and extensor surfaces of the extremities. What are the 3 important treatments for the typical case of eczema?

Moisturization, oral antihistamine, topical corticosteroids* Atopic dermatitis is a hereditary disorder involving a faulty epidermal barrier, resulting in dry skin from the inability of the stratum corneum to hold water. Water evaporates, the stratum corneum shrinks, and the epidermal barrier cracks. Clinical Findings: Infantile eczema: dermatitis on cheeks and scalp, oval patches on trunk, extensor surfaces of extremities Childhood (flexural) eczema: dermatitis involves antecubital and popliteal fossae, neck, wrists, sometimes hands and feet Adolescent eczema: chronic flexural eczema along with hand and/or foot dermatitis Differential Diagnosis: Seborrheic dermatitis Contact dermatitis Psoriasis Treatment: Moisturization twice daily with nonperfumed creams or lotions* Topical corticosteroids* Antihistamines for itching* Other recommendations may include avoiding rough or wool clothing, minimizing bathing, and avoiding allergens Wet dressings for acute, weeping eczema Systemic antibiotics for superinfected atopic dermatitis Tacrolimus or pimecrolimus can be used in children over 2 years of age who ae unresponsive to medium-potency topical steroids; however, note that most treatment failures in chronic atopic dermatitis are the result of noncompliance *most patients will require these 3 Prognosis: Only 1/3 of children with flexural eczema progress to adolescent eczema Atopic dermatitis is rare after age 30 years

An 18-month-old girl presents with fever, fussiness, and drooling. The mother reports that the child is refusing to eat or drink. On examination, she has multiple ulcers on her tongue, gums, and the buccal mucosa. What is the most likely diagnosis?

Normal teething syndrome Clinical Findings: Fever Irritability Drooling Multiple oral ulcers on tongue and buccal and gingival mucosa Gums are often red and friable Cervical lymphadenopathy Diagnostic Test Findings: Diagnosis is made clinically, and laboratory studies are generally not indicated. If necessary, herpes simplex virus can be detected via PCR Deferential Diagnosis: Herpangina (posterior lesions caused by Coxsackie virus) Aphthous stomatitis (anterior lesions, afebrile) Thrush Vincent angina (painful gingivitis, dental disease) Treatment: Supportive care: hydration, pain relief (ibuprofen or acetaminophen) Prognosis: Good

Newborn presents with sepsis in birth hospital at 36 hours of age. What is the most likely diagnosis?

Early Onset Group B Strep Sepsis (GBS)* Symptoms: Onset <7 days of age, within 48 hours, most in 6 hours Rapid progression of sepsis with apnea Meningitis (serotype III) Pneumonia with respiratory failure Risk factors; maternal GBS colonization, <37 weeks gestation, rupture of membranes (ROM) >18 hours, young maternal age, history of previous infant with invasive GBS, African American or Hispanic, low or absent maternal GBS anticapsular antibodies Diagnostic Test Findings: Chest x-ray resembles hyaline membrane disease Leukopenia with left shift Blood culture positive Deferential Diagnosis: Other bacterial or viral causes of sepsis Treatment: IV ampicillin and aminoglycoside Prognosis: >50% die Complications-osteomyelitis, cerebritis, ventriculitis, endocarditis Prevention-pregnancy women screened at 35 to 37weeks with vaginal/rectal cultures. Women who are GBS positive should be treated with IV antibiotics during labor prior to vaginal birth

A 12-month-old male infant with an abdominal mass is diagnosed with neuroblastoma. Which laboratory findings are diagnostic of this malignancy?

Elevated urinary catecholamines * linical Findings: Firm, fixed, irregular mass that crosses the midline, usually in abdomen Constitutional symptoms: fever, anorexia, weight loss, irritability Abdominal pain Hepatomegaly Bone Pain (suggests metastatic disease) Skull metastasis can lead to skull masses, periorbital ecchymosis, and proptosis Subcutaneous nodules are seen with metastasis to subcutaneous tissue If spinal cord compression, will see paresis, paralysis, and bowel/bladder dysfunction Diagnostic Test Findings: Anemia (60% of patients) Thrombocytosis (occasionally thrombocytopenia) Elevated urinary catecholamines are diagnostic (vanillylamandelic acid, homovanillic acid) Treatment: Surgical resection and chemotherapy Specific treatment is based on the stage (using the International Neuroblastoma Staging System), histology, and other variables Prognosis: Varies based on stage Pearl: Opsoclonus-myoclonus ("dancing eyes, dancing feet") is an unusual paraneoplastic manifestation of neuroblastoma characterized by chaptic eye movements, myoclonic jerking of limbs and trunk, ataxia, and behavioral disturbances. The outcome is favorable, through the opsoclonus-myoclonus may persist

A 1-year-old presents with fever, drooling, muffled voice, and sitting in a sniffing position. What is the diagnosis?

Epiglottitis* Clinical Findings: Sudden onset of fever Dysphagia Drooling Respiratory distress, inspiratory retractions Muffled voice Cyanosis Soft stridor Sitting "sniffing dog position" Diagnostic Test Findings: Imaging—lateral neck x-ray, classic thumbprint sign Direct visualization of epiglottitis—Cherry-red epiglottitis and arytenoids CBC, blood culture and epiglottic culture—hemophilus influenza type B/nontypable, Streptococcus pneuoniae, Neisseria, Staphylococcus aureus Differential Diagnosis: Croup Bacterial tracheitis Peritonsillar or retropharyngeal abscess Foreign body Angioedema Treatment: Endotracheal intubation IV ceftriaxone/cephalosporin for 2-3 days and then transition to oral antibiotics to total 10 day course Prognosis: Early recognition and rapid recovery Mortality <1%, total airway obstruction and respiratory arrest Recurrence unusual

A 17-year-old boy presents with multiple lesions on the extensor surface of his right arm. The patient reports that the lesions started two days prior, at which time they were "dark-red bumps." On examination, the lesions vary in size from about 1 to3 cm in diameter. They have an erythematous border, a concentric pale area, and a dusky center. What is the most likely diagnosis?

Erythema Multiforme (EM)* EM is an uncommon acute inflammatory disease that can be caused by drugs (especially sulfonamides), mycoplasma infections, and herpes simplex virus. Recurrent EM is usually die to recurrent HSV Clinical Findings: Begin with papules that develop a dark center and then become lesions with central bluish discoloration and target lesions with 3 concentric layers of color change Diagnostic Test Findings: consider testing for HSV Differential Diagnosis: Stevens-Johnson syndrome (involves conjunctiva, oral cavity, genital mucosa) Urticarial (these lesions migrate, in comparison to the fixed lesions of EM) Treatment: Symptomatic treatment in uncomplicated erythema multiforme, including oral antihistamines and cool compresses for pruritus Removal of offending drugs Consider pro568974 Prognosis: Lesions resolve within 10-14 days

A 12-month-old male infant has dropped below the 5th percentile on the weight-for-length growth curve. What is the condition?

Failure to Thrive* Clinical Findings: Weight curve drops by two major percentile channels from previously established rate Weight for length decreases below the 5th percentile Diagnostic Test Findings: Laboratories are generally not helpful for diagnosing growth faltering If concern for malnutrition, consider chemistry panel, CBC, and iron panel (including ferritin) Treatment: Correct macronutrient deficiencies (iron 2-4 mg/kg/day divided BID, zinc 1 mg/kg/day for 1-2 months) Structured mealtimes (3 meals and 2-3 snacks per day) Increasing caloric density of foods Pearls: WHO (World Health Organization) growth charts should be used for all infants and children Poor eating is often a learned behavior

A 3-year-old boy had birth length at the 50th percentile. In the first year of life, his growth velocity slowed and his length percentile drifted down to the 5th percentile. Over the last year, his growth has followed the 5th percentile. His mother is 4ft 11 in and his father is 5 ft 5 in. What is the most likely diagnosis?

Familial Short Stature* Clinical Findings: Normal birth weight and length Linear growth velocity slows in the first two years of life as they veer towards their genetically determined percentile Between 2 to 3 years of age, when target percentile is reached, they resume normal linear growth along the growth cure Final height is short, but appropriate for their family Deferential Diagnosis (For Short Stature): Constitutional growth delay Growth hormone deficiency Hypothyroidism Intrauterine growth restriction Chromosomal defects (Down syndrome, Turner syndrome) Treatment: None Pearls: Children with "constitutional growth delay" have a similar growth pattern to those with familial shot statue. However, these children do not have short parents and they continue to grow beyond the time the average child's growth ceases. Their final height is appropriate for target height. They often have a family history of "late bloomers."

A 10-year-old girl with an absent thumb has anemia, thrombocytopenia, leukopenia, and cafѐ au lait spots. What is the syndrome, and what are some additional clinical findings?

Fanconi Anemia* Fanconi anemia (constitutional aplastic anemia) is caused by autosomal recessive genetic mutations that result in defective DNA repair. Diagnosis is usually made between 2 to 10 years of age. Hallmark is a progressive pancytopenia. Clinical Findings: Purpura, petechiae, bleeding (thrombocytopenia) Recurrent infections (neurtropenia) Weakness, fatigue, pallor (anemia) Abnormal skin pigmentation (generalized hyperpigmentation or café au lait spots) Short Stature Skeletal malformations (hypoplasia/anomalies/absence of thumb an radius) Renal abnormalities (renal aplasia, horseshoe kidney, duplication of collecting system) Other anomalies (microcephaly, microphthalmia, strabismus, ear anomalies, hypogeitalism) Diagnostic Test Findings: Thrombocytopenia Leukopenia Progression to sever aplastic anemia Macrocytosis Elevation in fetal hemoglobin levels Treatment: Ocymetholone Bone marrow transplantation cures the aplastic anemia Prompt evaluation of fever, antibiotics Transfusions if needed, but thrombocytopenia may become refectory to platelet transfusion Prognosis: Mortality due to bleeding, infection, or malignancy, often in adolescence or early adulthood

A 2-year-old girl presents with fever to 101°F, cold symptoms, and a brief 3-minute seizure. What is the most likely cause of the seizure?

Febrile Seizures* Clinical Findings: 2% to 3%, 3 months to 6 years Fever >38.8°C Non-CNS infection 90% of seizures are generalized, <5 minutes in length, occurs early in illness Diagnostic Test Findings: EEG if seizures complicated Routine electrolytes, glucose, calcium, skull x-rays, and brain imaging are not helpful Deferential Diagnosis For Cause Of Infection: Consider meningitis/encephalitis Seizure disorder if complicated, focal, >15 minutes URI associated, viral causes in 86% of cases Gasroenteritis (Shigella/Campylobacater) Urinary tract infection Roseola Immunizations Treatment: Measures to control fever—sponge baths, anitpyrtics Prophylactic anticonvulsants not recommended, phenobarbital or valproic acid Rectal valium gel (Diastat) Prognosis: 1% to 3% lead to epilepsy Rare to get into status epilepticus 2 to 5 fold risk for adult epilepsy Recurrent febrile seizures in 30% to 50% of cases

A 16-year-old girl notices a rubbery movable mass in her right breast. What is the most likely cause?

Fibroadenoma* Clinical Findings: Rubbery well-circumscibed mobile palpable mass or lump in breast caused by fibroadenoma 67%, fibrocystic disease 15%, or mastitis/abscess 3% Differential Diagnosis: Most are benign, cancer is rare Solid tumor - fibroadenoma, lipoma Postmastitis abscess Papilloma-benign epithelial tumor Fibrocystic disease - hormonally mediated benign proliferation of alveolar system with variable degrees of pain, tenderness, and palpable thickening or nodules Galactocele-benign cystic tumor containing milk or a mily substance in the breast and is caused by a protein plug that blocks off the outlet. It may be associated with oral contraceptive use Inflammation due to trauma, hematoma Fat necrosis-benign condition that consists of fatty tissue that has been bruised or injured in the breast Cancer Treatment: Observation - breast masses can be static for years If fibrocystic - caffeine avoidance Antibiotic for mastitis Prognosis: Good for most, dependent on cause

A 1-week-old presents with bilateral milky discharge of breasts. What is diagnosis?

Galactorrhea* Clinical Findings: Milky discharge of both breasts Diagnostic Test Findings: Ultrasound Pregnancy test Prolactin level Thyroid function test MRI of brain Deferential Diagnosis: Chronic stimulation r irritation of the nipple Pregnancy Medications Illicit drugs Fibrocystic changes/ disease Intraductal papilloma Prolactin-secreting tumors Hypothyroid Tumors of hypothalamus or pituitary Treatment: Treat underlying cause Prognosis: Many cases symptoms resolve spontaneously

A 3-month-old vomits and is irritable after almost every feeding. His weight has dropped from the 50th percentile to the 25th percentile. What is the most likely diagnosis?

Gastroesophageal Reflux (GER)* Clinical Findings: Recurrent postprandial spitting or vomiting that resolves spontaneously Heartburn and regurgitation Failure to thrive Food refusal Colic Rumination and neck contortions (Sandifer Syndrome) Apnea in infants Associated with neurologic impairments Diagnostic Test Findings: Upper GI x-ray study to rule out anatomic disease pH probe Deferential Diagnosis: Pyloric stenosis or volvulus in infants, other obstruction in older children Common in children with prematurity, asthma, cystic fibrosis, developmental handicaps, hiatal hernia, repaired trachea-esophageal fistula Treatment: Small, thickened feeds at more frequent intervals Ranitidine, omeprazole Avoid changing formulas Fundoplication if unresponsive to medications Prognosis: Good, resolves spontaneously in 85% by 12 months Complications stricture, anemia, and Barrett esophagus

Newborn presents with intestines externally at birth associated intestinal atresia. What is the diagnosis?

Gastroschisis * Clinical Findings: Intestine extrudes through abdominal wall defect lateral t the umbilical cord No associated anomalies No sac at birth, no liver or spleen Intestinal atresia, stenosis, malrotation in 25% 1 to 5 in 10,000 births Associated with younger maternal age, maternal smoking, drugs, alcohol Diagnostic Test Findings: Elevated maternal serum alpha fetoprotein level Prenatal ultrasound Deferential Diagnosis: Omphalocele Treatment: Covering abdominal wall defect with sterile dressing, warm water Intravenous fluids, glucose, antibiotics Nasogastric decompression Primary surgical closure Prognosis: 90% survival

A newborn has a cleft palate and a small and receding chin. What is your diagnosis?

60% are associated with other anomalies or syndromes* Clinical Findings: 0.28 to 3.74 per 1000 births, varies with race Defect or missing tissue or notch of the lip or palate (roof of mouth) that occurs during fetal development when the facial parts are forming Defects can occur separately: 20% cleft lip (CL), 30% cleft palate (CP), or 50% cleft lip palate (CLP) together Cosmetic-facial esthetics, oroantral communication, dental problems Differential Diagnosis: Syndromic versus nonsydromic: chromosomal Trisomy 13 or 18, 4p-Wolf Hirschhorn Sprintzen Environmental: maternal seizures and anticonvulsant usage, fetal alcohol syndrome, amniotic bands Single gene: Treacher Collins Stickler, Smith-Lemli-Optiz, Moebius syndrome Treatment: Multidisciplinary team, including pediatrician, ENT, dentist, orthodontist, plastic surgeon, oral surgeon, nutritionist, and social worker Feeding management Palatal obturator for feeding and surgical correction over time for palate and lip closure Prognosis: 60% associated with other anomalies or syndromes Pierre Robin Sequence occurs when a small jaw (micrognathia) causes posterior displacement of the tongue, which usually (but not always) results in cleft palate Pearl: Babies with cleft palate will often require a special nipple for bottle feeding, such as the Special Needs Feeder (Haberman nipple)

A 10-year-old presents with frequent nosebleeds twice a week mostly at night. No history of bruising and no family history of bleeding. How often are these associated with bleeding disorders?

<5% cases associated with bleeding disorders* linical Findings: Nasal passages: red, raw with fresh clots, old crusts Telangiectasia, hemangiomas, varicosities Diagnostic Test Findings: Labs not indicated for initial episode Recurrent cases: CBC, Platelet count, prothrombin time Von Willebrand panel Toxicology screen when nasal use of illicit drugs is suspected Differential Diagnosis: Dryness Vigorous nose picking Nose blowing <5% cases associated with bleeding disorders, such as Von Willebrand disease Nasopharyngeal angiofibromas Hypertension Treatment: Sit up, soft part of nose pinched Nasal cavity cleared of clots with gentle blowing Oxymetazoline, gelatin sponge (Gelfoam) or collagen sponge (Surgical) Nasal corticosteroid spray Otolaryngology referral

Newborn presents with short-limbed dwarfism, trident-shaped hands, and macrocephaly. What is the diagnosis?

Achondroplasia Clinical Findings: Most common form of skeletal dysplasia Mutation of FGFR3 (80% of cases are a new mutation) Relative macrocephaly Midface hypoplasia Short-limbed dwarfism Trident-shaped hands Normal Condition Differential Diagnosis: Over 100 different skeletal dysplasia Treatment Spinal problems including lumbar lordosis an gibbus deformity Monitoring for progressive hydrocephalus due to risk of bony overgrowth at foramen magnum Prognosis: Good Recommend families seek support from Little People of America

A 13-year-old otherwise healthy boy presents with new onset lesions on forehead and cheeks that are inflammatory papules, some with purulent appearing inclusions. What diagnosis is most likely?

Acne Clinical Findings Open comedones aka "blackheads" are oxidized melanin within stratum corneum Closed comedones aka "white heads" obstruction of sebaceous follicle and subsequent formation of microcomedone Skin Lesions usually on face, chest, and back associated with androgens that involve plugging of sebaceous follicle, increased sebum production, proliferation of bacteria and inflammation Affects 85% of adolescents; onset 8 to 10 year of age (40% of children) Differential Diagnosis Rosacea, flat warts, malaria, molluscum, aniofibromas, of tuberous sclerosis Treatment: Differs by type of acne and severity: General skin care - Wash with soap 2x a day Comedones—Retinoic acid Inflammatory lesions—Topical benzoyl peroxide or Clindamycin Pustular—Tetracycline/minocycline/Doxycycline Nodulocystic—Accutane Prognosis: Good, Most acne resolves Most treatment regimens require 8 to 12 weeks of treatment to show improvement

A 14-year-old girl developed a "cold" about 2 weeks ago. One week ago the symptoms started to improve slightly, but then worsened. She complains of significant nasal congestion and headache. She has not been taking any over-the-counter medications. What is the most likely diagnosis?

Acute Bacterial Rhinosinusitis Clinical Findings: Nasal congestion Nasal Drainage Postnasal drainage Facial pain Headache Fever Diagnosis Test Findings: None indicated Imaging of sinuses during an acute illness is not useful. The radiographic findings (sinus opacification, fluid, mucosal thickening) are the same as would be seen with a viral URI Differential Diagnosis: Acute viral rhinitis ("common cold") Treatment: Treatment can be initiated in children who are not improving by 10 to 14 days, or those with severe symptoms (at least 3-4 consecutive days of fever ≥ 39◦C with purulent nasal drainage) High-dose amoxicillin is first-line therapy (unless child is in daycare or has been on antibiotics within the past 3 months, at which time amoxicilin-clavulanate is recommended) For patients with non-type I hypersensitivity to penicillin, cefuroxime, cefpodoxime, or cefdinir can be used Prognosis: Complications of bacterial rhinosinusitis include preseptal or orbital cellulitis Cavernous sinus thrombosis, Pott's puffy tumor (ostenitis of frontal bone), meningitis, epidural/subdural/brain abscesses. However, frequently children with these types of complicated rhinosinusitis have no history of sinus infection

A 3-year-old boy is brought to the emergency department because the mother reports, "He is walking like he is drunk." History reveals that he had a fever and upper respiratory infection about 10 days ago. Those symptoms have resolved. This morning he developed a sudden onset of ataxia. What is the most likely cause of his ataxia?

Acute Cerebellar Ataxia This is the most common cause of acute childhood ataxia (40% of Cases). Frequently occurs after prodromal of fever, respiratory or GI illness, or rash within 3 weeks prior. It is more common in children 2 to 6 years old. The symptoms arise abruptly. Clinical Findings: Wide-based, drunken gait Child may refuse to walk due to Ataxia May be irritable Weakness is not present Examination is usually symmetric Diagnostic Test Findings: CSF opening pressure, protein, glucose levels are normal Can see a mild pleocytosis (with lymphocytic predoinance) CT scan or MRI is normal Differential Diagnosis: Increased intracranial pressure Head or neck trauma (including nonaccidental trauma) Ingestion (toxic cerebellar syndrome) Acute demyelinating encephalomyelitis (ADEM) Posterior fossa tumor Treatment: Supportive care IVIG has been used for treatment Steroids are not effective Prognosis: 80% to 90% of patients recover within 6 to 8 weeks Some patients will have lingering behavioral changes, learning problems, speech problems, or eye movement abnormalities

A 3-year-old girl is brought in after 2 days of nonbilious vomiting, which is improving, and about 6 hours of watery, nonbloody diarrhea. Her 5-year-old brother had similar symptoms last week, and is still having some diarrhea. What is the most likely diagnosis?

Acute Gastroenteritis Viruses are the most common cause of acute gastroenteritis. Rotavirus is the most common virus. Clinical Findings: Vomiting is usually the first symptom Diarrhea follows after about 24 hours Fever Differential Diagnosis: Vomiting in the absence of diarrhea has a wide differential, including urinary tract infection, diabetic ketoacidosis, and intracranial pressure The differential for diarrhea includes antibiotic associated diarrhea, diet, allergy to dietary proteins, malabsorption, and bacterial enteritis Treatment: Supportive: fluid and electrolyte replacement Oral rehydration can be accomplished with Pedialyte for infants or Gatorade for toddlers and older children (5 ml every 5 minutes) Prognosis: Good Pearls: Infection can reduce intestinal lactase levels. A brief period of a lactose-free diet may decrease the duration of diarrhea, but is not critical to recovery Antidiarrheal medications are not recommended

A 4-year-old boy is brought to clinic following near drowning episode. He is in respiratory distress and has a chest radiograph suggestive of pulmonary edema. What is the most likely diagnosis?

Acute Respiratory Distress Syndrome (ARDS)* ARDS is a severe form of acute lung injury (ALI). It can be caused by direct pulmonary injury (pneumonia, inhalation injury, near drowning) or other non-pulmonary systemic conditions (sepsis, shock, buns, trauma). Extravascular lung water accumulates due to increased capillary permeability. Clinical Findings: Patients initially present with dyspnea, tachypnea, and respiratory alkalosis. Symptoms worsen and respiratory distress is evident PaO₂/FiO₂ ≤100 Hypoxmia (usually refractory to supplemental oxygen) Bilateral pulmonary infiltrates (pulmonary edema) No evidence of left atrial hypertension Treatment: Ventilation (Multiple approaches. High-frequency oscillatory ventilation [HFOV] may be used. Consideration must be given to prevent voluntauma.) Fluid management (minimize further pulmonary edema) Hemodynamic support Prone positioning may reduce chest wall compliance In some cases, inhaled NO has been used Prognosis: Information on Long-term outcome of pediatric patients is limited

Newborn infant born is small for gestational age, has facial features that include short palpebral fissures, flattened philtrum and thin vermillion upper lip, and a VSD. What a prenatal exposure is most likely?

Alcohol consumption * Clinical Findings: May have withdrawal symptoms in newborn period Short palpebral fissures, ptosis, flattened philtrum, thin vermillion upper lip Growth deficiency, microcephaly Optic nerve dysplasia, agenesis corpus callosum Cardiac anomalies and VSD most common Deferential Diagnosis: Chromosomal anomalies (eg, Williams, Noonan) Other syndromes of rug exposure (Fetal hydantoin syndrome) Treatment: No specific treatment Early developmental intervention and support Prognosis: Over 50% have some neurocognitive/behavioral disabilities Dependent on degree of alcohol exposer

A 9-year-old girl has itchy nose, nasal congestion, and sneezing every spring. On examination, she has red, swollen nasal turbinates. What treatment options are available for her_______________ condition?

Allergic Rhinitis* Clinical Findings: Nasal congestion Differential Diagnosis: Viral URI Sinusitis Postmedication rhinitis Treatment: Intranasal corticosteroids Oral and intranasal antihistamines Leukotriene Antagonists Nasal saline rinses can help rinse away allergens

A 1-year-old Asian baby has Hgb 8, poikilocytosis on smear and hepatosplenomegaly, and normal Fe and ferritin level. What is your diagnosis?

Alpha Thalassemia* Clinical Findings: One gene deletion: 3 alpha globin asymptomatic Two gene deletion: 2 alpha globin asymptomatic or low MCV, hypochromic blood smear with targets Three gene deletion: 1 alpha globin microcytic anemia, Hgb 7 to 10, hepatosplenomegaly, increased reticulocyte count, hypochromia, poikilocytosis, emerges as Hgb H disease Four gene deletion: intrauterine anemia/hydrops fetalis, fetal demise Diagnostic Test Findings: Blood smear, CBC Hgb electrophoresis Differential Diagnosis: Iron deficiency anemia, Beta thalassemia, hemolytic anemias Treatment: Non for Alpha thal trait Avoid needless administration of iron Hgb H folic acid, G6PD diet, hypersplenism may require splenectomy, transfusion Genetic counseling Prognosis: Woman with hydrops may have toxemia and postpartum hemorrhage

A child with strabismus is found to have decreased visual acuity in her right eye. What is the name for this reduction in vision?

Amblyopia* Amblyopia is a reduction vison (either unilateral or bilateral) due to an unclear retinal image, which results in lack of development of the visual cortex. It is commonly due to strabismus, refractive errors, or visual deprivation (such as a cataract). Clinical Findings: In verbal child, amblyopia may be discovered by a failed visual acuity screening Preverbal children should be screened for amblyogenic factors, including strabismus, asymmetric red reflexes, and family history of strabismus or amblyopia Treatment: Address amvlyognic factors (i.e., treating cataracts) Patch the "good" eye to encourage the visual system to process input from the amblyopic eye. Alternatives to patching include cycloplegic drops, lenses, or filters to blur the sound eye Prognosis: With treatment, generally good

A 3-year-old presents with 1 week of cold symptoms, fever, pulling on right ear, and decreased sleep. The right TM appears red, is immobile, and has a bullous lesion on the lower aspect of the tympanic membrane. You suspect otitis media. What is the first line of treatment?

Amoxicillin* Clinical Findings: Fever Otalgia Decreased sleep Decreased appetite Irritability Decrease mobility of tympanic membrane by tympanic membrane Impaired visibility of ossicular landmark Predisposing Factors: Bacterial colonization, viral URI, smoke exposure, Eustachian tube dysfunction, impaired host defenses, bottle feeding, genetic susceptibility Differential Diagnosis: Otalgia due to pharyngitis Serous fluid due to allergy or upper respiratory infection Pain due to cerumen impaction Treatment: Pain management - acetaminophen/ibuprofen Antipyrine-benzocaine ear drops (topical pain reliever) Watchful waiting Antibiotic therapy: amoxicillin or amoxicillin-clavulanate, cefuroxime, cefdinir, cefpodoxime Tympanocentesis

A 15-year-old who was in a fight presents with a sore hand and bite marks from his opponent on his knuckles. What is the best course of action?

Amoxicillin-clavulanic acid PO * Clinical Findings: 2% to 3% of all bites Teeth marks, associated contusion versus laceration If older wound, look for signs of infection—fever, erythema, swelling, purulent discharge, adenopathy Deferential Diagnosis: Other animal bites Treatment: Wound management—irrigation Antibiotic prophylaxis Amoxicillin-clavulanic acid x 5 days Severe laceration on face may require sutures Injury of metacarpophalangeal joint may need operative debridement Tetanus prophylaxis Prognosis: Pearl: Good

A 17-year-old girl presents for evaluation of secondary amenorrhea. Her current BMI is at the 10th percentile. On examination, she is noted to be bradycardic. What is the most likely diagnosis?

Anorexia Nervosa (AN)* Clinical Findings: Decreased body temperature Bradycardia Dizziness, light-headedness, syncope Cold hands/feet (decreased peripheral circulation) Thinning hair, brittle nails, dry skin Lanugo Early satiety Gastroesophageal reflux Constipation Difficulty concentrating, irritability, depression Amenorrhea Diagnostic Test Findings: Increased blood urea nitrogen and creatinine Increased AST and ALT Increased cholesterol Decreased alkaline phosphatase Low or low-normal TSH and Thyroxine Abnormal electrolytes Decreased phosphorus Prolonged QTcB on EKG Differential Diagnosis (For Weight Loss): Inflammatory bowel disease, diabetes, hyperthyroidism, malignancy, depression, HIV, celiac disease Treatment: Outpatient, day-treatment, or inpatient settings Multidisciplinary approach (medical, nutrition, individual, and family psychotherapy) Zinc supplementation (zinc deficiency is common is AN) and multivitamin with iron Symptomatic treatment for constipation and reflux Prognosis: Patients with eating disorders have an increased risk of death Death in anorexic patients is due to suicide, electrolyte abnormalities, or cardiac arrhythmias

An 11-year-old boy wakes with fever, right lower quadrant abdominal pain, and is refusing breakfast. What is your diagnosis?

Appendicitis* linical Findings: Fever Periumbilical abdominal pain localizing to right lower quadrant (RLQ) Anorexia Vomiting Constipation Diarrhea Peritoneal irritation, rebound tenderness Positive rectal examination Poorly localized in children <2 years old Diagnostic Test Findings: WBC 15 000, CRP > 1 Urinalysis with pyuria pregnancy test negative Guaiac positive/fecal leukocytes Imaging: Ultrasound identifies appy in 93% of cases. Abdominal CT can identify appendicitis, may show enlarged mesenteric lymph nodes Differential Diagnosis: Intrathoracic infection—pneumonia or urinary tract infection, gastroenteritis Intestinal malrotation, intussusception Streptococcal pharyngitis Ovarian torsion, ectopic pregnancy Testicular torsion Kidney stone Treatment: Exploratory laparoscopy single-perioperative-antibiotic dose Prognosis: Morality <1% despite high incidence of perforation

A 5-year-old girl presents with chest pain, cough, and FEV ₁/FVC is 75% of predicted. What is the diagnosis?

Asthma* Clinical Findings: Coughing Wheezing Shortness of breath Chest tightness Precipitating factor or trigger Response to bronchodilator or anti-inflammatory medication Diagnostic Test Findings: Pulmonary Function Test: FEV ₁/FVC is 80% Allergy testing Chest x-ray Differential Diagnosis: Pneumonia/bronchiolitis/ChlamydialPertussis Cystic fibrosis Bronchopulmonary dysplasia Gastroesophageal reflux Croup Aspiration Foreign body Vocal cord dysfunction Bronchiolitis Obliterans Tracheoronchomalacia Sinusitis Treatment: Corticosteroids Leukotriene modifiers Mast cell stabilizers Bronchodilators Theophylline Rare and severe—troleandoycin, metotrexate, cyclosporine, helium Educational and environmental control Prognosis: May "outgrow" asthma because 40% to 50% of children experience wheezing in the fist 3 years of life If symptoms are not improving with standard treatment, consider further workup with bronchoscopy, pH probe (to evaluate reflux), or sinus CT

A 2-month-old infant is being seen for routine well childcare. His mother notes that he has a raised red mark on his left ankle. She reports that he was not born with this, but she thinks it appeared when he was 2 to 3 weeks old, and has been growing larger since that time. At what age would you accept this lesion to start to involute?

At age 6 years should be gone* Clinical Findings: Red, rubbery plaque or nodule Not present at birth, appears at age 2 to 4 weeks, then proliferates, growing out of proportion to the growth of the child Growth stabilizes around 9 to 12 months of age, and then begins to involute over several years Deferential Diagnosis: Lymphangioma Treatment: Immediate treatment for cases in which the hemangioma is causing visual obstruction (and amblyopia) or airway obstruction. In rare cases, treatment is required for cardiac decompensation Propranolol in cases where treatment is warranted Prognosis: Maximal resolution occurs by age 5 in 50% of cases, by age 9 in 90% of cases May leave redundant skin, hypopigmentation, telangiectasia Pearls: Hemangiomas of the head and neck (in the "beard" distribution) may be associated with subglottic hemangiomas, which may present with stridor or other signs of airway obstruction Kasabach-Merritt syndrome does not occur with single cutaneous hemangiomas. It is seen with internal hemangiomas or rare vascular tumors, and is characterized by platelet trapping, which leads to consumption coagulopathy

A 4-year-old boy, asymptomatic, presents with systolic ejection murmur in upper sternal area, widely split S₂, and a right heave. What heat defect is it?

Atrial Septal Defect (ASD)* Clinical Findings: Widely split S₂, right heave Systolic ejection murmur at pulmonary area Older-exercise intolerance Easy fatigue Congestive heart Failure Diagnostic Test Findings: Chest x-ray: cardiac enlargement ECG: right axis deviation ECHO: dilated right atrium, L to R shunt through defect by color Doppler Differential Diagnosis: Other heart lesions Treatment: Closure for large defects especially those with right heart dilation by surgery or smaller ones by cardiac catheterization Prognosis: First decades of life usually do well Concern for pulmonary hypertension and endocarditis

Newborn with Trisomy 21 presents with congestive heart failure. What is the most likely heart defect?

Atrioventricular Septal Defect (AVSD)* Clinical Findings: 4% of congenital heart disease, 35% to 40% with Trisomy 21 Neonate inaudible murmur or nonspecific systolic murmur after 4 to 6 weeks Partial defect: symptoms like ASD Complete defect: congestive heart failure, failure to thrive, tachypnea, diaphoresis with feeding Diagnostic Test Findings: Chest x-ray: cardiac enlargement, increased pulmonary vascular markings ECG: left axis deviation with counterclockwise loop in frontal plane, first-degree heart block in 50% ECHO: right or left ventricular hypertrophy Differential Diagnosis: Other heart lesions Ventricular septal defect Atrial septal defect Treatment: Surgery required because no spontaneous closure Cardiac catheterization not routinely used Prognosis: Partial defect: low mortality of 1% to 2% Complete defect: require correction by 1 year or chances of survival are poor

A 1-month-old formula fed male infant with family history of atopy and bloody flecks in his stool presents to the clinic. He is otherwise healthy. What is the most likely diagnosis?

Cow's Milk intolerance* Clinical Findings: Male > female, prevalence 0.5% to 1% Family history of atopy Healthy infant with flecks of blood in stool Loose mucoid stools Diagnostic Test Findings: CBC for Ggb level Albumin No colonoscopy Rectal biopsy shows, lymphonodular hyperplasia, mucosal edema, eosinophilia Differential Diagnosis: Celiac Other food allergy Infectious colitis Treatment: Eliminating source of protein Protein hydrolysate formula Prognosis: Self-limited 8 to 12 months Older children - eosinophilic gastroenteritis, protein-losing enteropathy

A 7-year-old boy is having difficulty sitting still in his second grade classroom as well as in Sunday school. His patents note that he cannot sit still at the dinner table and frequently interrupts conversation. His parents have received complaints about disruptive behavior from school since he was in kindergarten, but they were hoping he would outgrow this as he matured. He passed hearing and vision screen at school recently. What is the most likely diagnosis?

Attention Deficit Hyperactivity Disorder (ADHD)* Clinical Findings: Hyperactive/Impulsive Fidgetiness Difficulty remaining seated in class Excessive Running or climbing Difficulty engaging in quiet activities Excessive talking, blurting out answers before question is completed Interrupting and intruding on others Inattentive Failure to give close attention to detail Difficulty sustaining intention to task Failure to listen when spoken to directly Failure to follow instructions Difficulty organizing tasks and activates Reluctance to engage in tasks Losing tools necessary for tasks or activities Easy distractibility Forgetfulness in daily activities Diagnostic Test Findings: Teacher and parent screening tools such as the Vanderbilt Parent/teacher Rating Scale can aid in diagnosis Differential Diagnosis (Of Disruptive Behavior): Seizures, Tourtte, PTSD, sleep disorder (or poor sleep hygiene), hearing loss, mania, anxiety, learning disorder, adjustment disorder Treatment: Pharmacotherapy: stimulants, alpha-agonists, antidepressants, antipsychotics Behavior modification techniques, including structure for daily routine Counseling Social skills training Pearl: Rule out ADHD look-alikes---- see differential diagnosis for partial list Symptoms should be present in most (if not all) of child's daily settings (home, school, etc.) Symptoms must be present before 7 years of age Comorbid conditions are common

3-month-old infant presents with fever, staccato cough, conjunctivitis, and bilateral rales. Mother with history of Vulvovaginitis. What is your diagnosis?

Atypical Pneumonia (Chlamydia)* Clinical Findings: Staccato cough Fever Rhiopharyngitis, otitis, media Inclusion conjunctivitis 50% Tachypnea, rales, few wheezes Diagnostic Test Findings: Chlamydia trachomatis nasopharyngeal fluorescent antibody culture Eosinophilia IgM (IgF, IgA) Serologic testing Chest x-ray: diffuse interstitial or patchy alveolar infiltrates, peri-bronchial thickening, hyper-expansion, small pleural reaction Differential Diagnosis: Viral or bacterial pneumonia Prematurity (bronchopulmonary dysplasia) Pneumocystis jiroveci Treatment: Macrolide for 7 to 10 days Sulfisoxazole Hospitalization if patient has respiratory distress, cough paroxysms, pottussive apnea, or oxygen requirement Prognosis: Increased incidence of obstructive airways disease or abnormal PFTs for at least 7 to 8 years postinfection

A 12-year-old girl presents with fever, headache, malaise, sore throat, bullous lesion on right tympanic membrane, and bilateral wheezing on pulmonary examination. What is your diagnosis?

Atypical Pneumonia (Mycoplasma)* Clinical Findings: Cough, dry at onset but productive sputum may develop Older age >5 years Headache Malaise Sore throat Fever Otitis media/external/bullous myrngitis Rales, decreased breath sounds Diagnostic Test Findings: Cold aglutinins 1:64 (4-fold rise) Polymerase chain reaction for Mycoplasma Differential Diagnosis: Viral or bacterial pneumonia Treatment: Macrolide for 7 to 10 days Ciprofloxacin Supportive measure: hydration, antipyretics, and bed rest Prognosis: Excellent if no complications Complications: autoimmune hemolytic anemia (direct Coombs positive), coagulation defect, thrombocytopenia, cerebral-infarct, menigoencephalitis, guillain-Barrѐ, cranial nerve involvement, psychosis, Erythema multiforme, Stevens-Johnson, myocarditis-pricarditis

A 2 ½ -year-old presents with speech delay, twirling behaviors, unpredictable periods of anger, and trouble sleeping. He is not interested in playing with others at preschool. What is the diagnosis?

Autism* Clinical Findings: Deficit social responsiveness and interpersonal relationship (lack of eye contact/ relationship (lack of eye contact/regard for face) Abnormal speech, language development, 40% to 60% have IQ <70 Ritualized repetition, stereotype behaviors (twirling and hand flapping) Rigidity Unpredictable mood changes Abnormal eating and sleeping patterns No age typical interests/activities Onset before 3 years, familial Cause unknown but associated with phenylketonuria, rubella, tuberous sclerosis, infantile spasms, encephalitis, Fragile X syndrome Differential Diagnosis: Hearing/visual impairment, metabolic disorders, Fragile X syndrome Treatment: Family support Occupational therapy for sensory integration Early intervention services Behaviorally oriented special education classes Pharmacotherapy to reduce target symptoms (neuroleptics, psychostimulants, antidepressants, mood stabilizers) Prognosis: Better if normal IQ and symbolic language skills by age 5, 1/6 are employed as adults

A 15-month-old boy has had bilateral red eyes with a goopy yellow discharge. His mother reports that his eyes have been matted shut when he awakes in the morning and from naps. How should this be treated? What is the most likely diagnosis?

Bacterial Conjunctivitis* Clinical Findings: Conjunctival injection of one or both eye Purulent discharge from eye(s) Differential Diagnosis: Viral conjunctivitis Allergic conjunctivitis Traumatic conjunctivitis Chemical conjunctivitis Treatment: Topical antibiotics, such as erythromycin, polymyxin-bactracin, tobramycin, fluoroquinolones Prognosis: Good Pearl: Viral conjunctivitis involves conjunctival injection of one or both eyes with a water discharge

An 18-month-old unimmunized child presents with fever, seizures, neck pain, and impaired level of consciousness. What is your diagnosis?

Bacterial Meningitis* Clinical Findings: Acute 1 to 24 hours, subacute 1 to 7 days, chronic >1 week Fever Headache or neck pain Seizures Impaired consciousness Motor paralysis Diagnostic Test Findings: CSF cells, increased protein Culture, PCR, serology of CSF or blood Radiology: swelling, dysmyelination, and infarcts Treatment: Broad spectrum antibiotic coverage dependent on patient age and most likely pathogens Supportive measures and treat complications including hypovolemia, hypoglycemia, hyponatremia, acidosis, septic shock, increased ICP, seizures, DIC, metastatic infections-arthritis/pneumonia Prognosis: Hearing loss with Hemophilus influenzae 5% to 10% Subdural effusion Steptococcus pneumoniae 50% Seizures 30% Focal deficits, cognitive deficits, and behavior issues related to edema

A 7-year-old girl with previous history of cold symptoms wakes up at night with shaking chills, worsening of cough, and fever. On examination, she is ill-appearing and has a temperature of 104 °° (40 °° C). Her respiratory rate is 42 breaths per minute and ausculation of her chest revealed crackles on her posterior right lung fields. What is the most likely diagnosis?

Bacterial Pneumonia* Clinical Findings: Fever Cough Tachypnea (worrisome if >50 in older kids, >70 in less than 1 year of age) especially out of proportion to the degree of fever and crackles Diagnostic Test Findings: Radiograph can lag behind the clinical findings by several days Pulse oximetry Blood culture not helpful >20 00 WBC, ESR, CRP Differential Diagnosis: Viruses - most common cause of pneumonia in children of any age Treatment: Outpatient management if no respiratory distress Supportive care and fluids No effective antivirals except for influenza Ambulatory children with suspected pneumococcus should be treated with high-dose amoxicillin or a cephalosporin. Hospitalized patients may require IV ampicillin or IV cephalosporin Vancomycin or clindamycin - severely ill children with suspected complicated pneumococcal disease Prognosis: Radiographic evidence resolves within 4 to 6 weeks Persistent opacifications - inadequate pulmonary lung abnormality

A 15-year-old girl presents with malodorous gray vaginal discharge with her menses. Positive fishy odor with KOH test and many clue cells seen with microscope. What is you diagnosis?

Bacterial Vaginosis* Clinical Findings: Heavy malodorous homogenous gray white discharge Vaginal itching Dysuria Fishy odor post intercourse or during menses when high pH of blood/semen volatilizes amines 50% are asymptomatic Diagnostic Test Findings: Wiff test - fishy amine odor after 10% potassium hydroxide (KOH) 20% clue cells - squamous epithelial cells with multiple bacteria adhering to them Vaginal pH >4.5 Differential Diagnosis: Other vaginal infections Treatment: Metronidazole 500 mg for 7 days (Lactobacillus, Mycoplasma hominis, anaerobes) or Clindamycin 300 mg twice daily X 7 days Prognosis: Complications if during pregnancy such as preterm labor/delivery Postpartum endometritis Pelvic inflammatory disease Urinary tract infection

A 6-month-old Mediterranean infant has poor growth, Hgb 8, low MCV, hepatosplenomegaly, and normal Fe and ferritin level. What is your diagnosis?

Beta Thalassemia Clinical Findings: Beta Thal Minor (Negative Newborn Screen): Mild microcytic hypochromic anemia, no response to iron therapy, normal physical examination Heterozygous for Beta Thal African/Mediterranean/Middle Eastern/Asian Beta Thal Major (Hgb F only): severe microcytic anemia first year of life, hepatosplenomegaly, normal at birth homozygous for Beta Thal Mediterranean/Middle Eastern/Asian Diagnostic Test Findings: Beta thal minor MCV/RBC <13, increased HgA2 level CBC, blood smear Hgb electrophoresis Differential Diagnosis: Iron deficiency anemia, Alpha thalassemia, hemolytic anemias, Beta thalassemia major rarely confused with other conditions Treatment: Blood transfusions, otherwise grow poorly Nightly infusion deferoxamine chelation therapy Avoid needless administration of iron Stem cell transplantation with 90% cure with HLA match sibling Genetic counseling Prognosis: Poor growth, recurrent infections, hepatosplenomegaly, thinning of cortical bone

4-year-old boy presents with recent flu-like illness, frequent urination, and increased thirst. What one blood test should you do?

Blood glucose * Clinical Findings: Polyuria Nocturnal enuresis Polydipsia Intense hunger Weight Loss Malaise Preceding flu-like illness Diagnostic Test Findings: Random glucose >300 or fasting >200 Glucosuria Severe ketonuria, ketonemia, acidosis Insulin, c peptide HbA1c every 3 months Cholesterol, lipids TSH yearly Differential Diagnosis: Diabetes insipidus, type 2 Treatment: Insulin—rapid acting regular lispro, intermediateacting NPH, or basal long-acting insulin Diet—adherence to a meal plan, less extra snacks and overtreatment of low sugars Exercise—30 minutes a day Stress management Home blood glucose and ketone monitoring Education for entire family Prognosis: Complications of neuropathy, nephropathy, and retinopathy Best outcomes with longitudinal maintenance of HvA1c, good blood pressure control, and no tobacco use. In this case, <1% are blind or require kidney replacement after 30 years post diagnosis Pearl: Frequent urination with a dry tongue is suggestive of DM

A 4-month-old presents with congestion, cough, and wheezing. Pulse oximetry shows mild hypoxia. What is your diagnosis?

Bronchiolitis* Clinical Findings: Coughing, labored breathing, tachypnea, hypoxia Irritability, poor feeding, vomiting Wheezing or crackles on chest auscultation Diagnostic Test Findings: Viral nasal wash for raid assay or culture Chest radiograph with hyperinflation, peribronchial cuffing, increase interstitial markings, subsegmental atelectasis Differential Diagnosis: Pneumonia Asthma Congestive heart failure Gastroesophageal reflux Treatment: Nasal suctioning Hydration Supplemental oxygen if hypoxia Nebulized epinephrine Some may respond to albuterol inhalation Prophylaxis with monoclonal antibody (Palivizumab) in select population Prognosis: Good for most infants Worse for those with underlying chronic disease 30% of infants develop wheezing Death is rare, most likely associated with apnea

A 4-month-old male infant has an abnormal head shape with elongation in the anterior to posterior direction. The suture has prematurely closed. What is the term for the resulting condition?

Craniosynostosis* Premature closure of cranial sutures. Clinical Findings: Sagittal suture: elongation of the head in anterior to posterior direction (this head shape is known as dolichocephaly or scaphocephaly) Coronal suture: increase in cranial growth from left to right (brachycephaly) Metopic suture: triangular-shaped head, most noticeable in forehead (trigonocephaly or metopic suture stenosis) Lambdoid: occipital flattening, usually one-sided (unilateral lambdoid synostosis) Diagnostic Test Findings: Uncommonly, crainosynostosis can be associated with underlying metabolic disturbance (hyperthyroidism, hypophosphatasia) Differential Diagnosis: Plagiocephaly Treatment: Surgical correction (best results if performed during first 6 months of life) Prognosis: Impaired brain growth and neurologic dysfunction seen in the uncommon situation in which many or all of the cranial sutures close prematurely

A 13-month-old boy appears pale. His mother reports that he prefers milk to solid foods, and drinks upwards of 40 oz of whole milk per day. What laboratory study should be ordered initially?

CBC with differential * Clinical Findings: Asymptomatic if mild iron deficiency Pallor, fatigue, and irritability, with more severe deficiency Diagnostic Test Findings: Microcytic, hypochromic anemia Low MCV, low mean corpuscular hemoglobin Reticulocyte count is normal or slightly elevated Reticulocyte index is decreased Decreased serum ferritin, low-serum iron, elevated total iron-binding capacity, decreased transferrin Deferential Diagnosis: Thalassemia also causes microcytic, hypochromic anemia. In this condition, there is usually an elevated number of erythrocytes and the index of MCV divided by red cell number is usually <13 Treatment: Oral dose of elemental iron is 6mg/kg/d (divided into 3 daily doses) Prognosis: Good Pearls: Anemia usually resolves within 4 to 6 weeks of treatment. Continue treatment for a few additional months to replenish iron stores A history of pica is common with iron deficiency

A 1-year-old girl with diarrhea, distention, abdominal pain, and growth delay. Elimination of wheat in her diet relieved her symptoms. What is the most likely diagnosis?

Celiac Disease* Clinical Findings: Age 6 to 24 months, 1/100 Immune mediated enteropathy Abdominal pain Vomiting Distention, sometime constipation Diarrhea, fatty stools Failure to thrive Irritability Edema Pruritic rash Arthritis Diagnostic Test Findings: Duodenal biopsy Transglutaminase AB IgA antiendomysial ab Anemia Low protein Differential Diagnosis: Food allergies Diarrhea with immunodeficiency Hypergastinemia (Zollinger-Ellison Syndrome) Crohn disease Treatment: Clinical improvement with gluten-free diet (protein in wheat, rye, barley, and possibly oats) Severe symptoms require corticosteroids Prognosis: Symptoms normalize after 6 -12 months of gluten-free diet Enteropathy associated T-cell lymphoma of small bowel Infertility Untreated osteopenia Pearl: Associated with Type 1 diabetes, Trisomy 21, Turner syndrome, IgA deficiency, and autoimmune thyroiditis Biopsy may be negative if patient has been on a gluten-free diet. Ideally biopsy should be done before commencing gluten-free diet

A 7-year-old boy is brought to the emergency department with an area of spreading redness on his right leg that is tender to touch. He has a fever 102 °° F. What is the most likely diagnosis?

Cellulitis* Clinical Findings: Erythematous, hot, tender, ill-defined plaques Local lymphadenitis Fever, malaise Portal of entry is often an insect bite or superficial infection May be localized with purulent center (more characteristic for staphylococcal infection) May spread rapidly and have lymphatic streaking (most characteristic of staphylococcal infection) May spread rapidly and have lymphatic steaking (most characteristic of streptococcal infection) Diagnostic Test Findings: Culture will most often reveal group A beta-hemolytic streptococci or coagulase-positive staphylococci Differential Diagnosis: Erysipelas Abscess without accompanying cellulitis Necrotizing fasciitis Treatment: Appropriate systemic antibiotic, such as cephalexin (Keflex) Prognosis: Good Pearl: Soft tissue needle aspiration is preferred over a skin swab for culture A good culture is important in order to hone in on appropriate treatment. Until culture results have returned, treat with antibiotic that covers both streptococci and staphylococci

What is cerebral palsy?

Cerebral palsy is a chronic impairment of muscle tone, strength, coordination, or movements.* Cerebral palsy refers to a chronic impairment of muscle tone, strength, coordination, or movements. It is static (nonprogressive). It originates from cerebral insult before birth, during delivery, or in perinatal period. It is common for other neurologic disorders to be present as well. Clinical Findings: Spasticity of limbs (75% of cases) Monoplegia (one limb affected) Hemiplegia (arm/leg on same side) Paraplegia (both legs affected) Quadriplegia (all four limbs affected) Spasticity of limbs (75% of cases) Hyperreflexia Ataxia (15% of cases) Involuntary movements Microcephaly is common Seizures may be present Disorders of speech, language, vision, hearing, sensory perception may be present Treatment: Physical, occupational, speech therapy Special education assistance Medications or injections for spasticity Treatment of seizures Prognosis: Depends on severity of motor deficits, degree of incapacity, child's IQ Aspiration, pneumonia, and other infections are most common cause of death Pearl: Cerebral palsy is a nonspecific term The severity, manifestations, course, and prognosis vary considerably

An 18-month-old girl presents with 4 loose stools per day X3 weeks. No evidence of infection or other underlying disease history. What is your diagnosis?

Chronic Diarrhea of Toddlerhood* Clinical Findings: Age 6 or 20 months 3 to 6 loose stools or >15 gms/kg/day Increase fluid in stool History of overfeeding, fruit juice Diagnostic Test Findings: Stool test negative Differential Diagnosis: Antibiotic treatment Extraintestinal infections, such as urinary tract infection or otitis media Immunologic IgA or T cell Infection: Giardia, Entamoeba, Salmonella, Yersinia enterolitica Malnutrition Pancreatic insufficiency Cystic fibrosis Shwachman-Diamond Malignancy-vasoactive intestinal peptide Laxative abuse Allergic food enterocolitis Treatment: Dietary fiber Eliminate fruit juice Prognosis: Good, resolves by 3.5 years

Acute Lymphblastic Leukemia (ALL) A 7-year-old boy has been complaining of lower leg pain, fatigue, and refusing to walk. His mother brings him in for evaluation because she is concerned that he has been bruising more than usual and he appears pale. What is the most likely diagnosis?

Clinical Findings: Bruising Petechiae and purpura Pallor Hepatomealy or splenomegaly Lymphadenopathy Bone Pain (especially pelvis, vertebral bodies, legs) Diagnostic Test Findings: WBC low or normal, but differential shows neutropenia Periperal blood smear reveals Blasts Decreased platelet counts (<150 000) Decreased Hemoglobin (<11 g/dL) Elevated uric acid and lactate dehydrogenase (LDH) due to cell breakdown Bone marrow shows homogeneous infiltration of leukemic blasts Differential Diagnosis: Chronic EBV or CMV infections (lymphadenopathy, hepatosplenomegaly, fever anemia), Anemia (pallor), and JRA (fever and joint pain) Treatment: Chemotherapy administered in several phases: induction, consolidation, maintenance Most patients' therapy protocols are directed by the clinical trials in which they are enrolled (through the Children's Oncology Group or others approved by the National Cancer Institute) Prognosis: Highest event-free survival is in children ages 1 to 9 with WBC at diagnosis less than 50 000 ("standard risk ALL")—Evnt-free survival (EFS) is above 90% Children over age 10 have EFS around 88% Pearl: ALL is the most common malignancy in kids

A 9-year-old boy continues to wet the bed at night a few times a night. Mother wants to know if bedwetting alarms are a helpful treatment regimen

Clinical Findings: Repeated urination in clothes or bed at night, twice a week for 3 months 15.5% for 7-year-olds wet Diagnostic Test Findings: Normal urinalysis, Urine culture Differential Diagnosis: Uncomplicated nocturnal enuresis is a maturational disorder Familial Bladder functional capacity—do not wake up to full bladder Constipation Urinary tract infection Underlying pathology: Cystitis, diabetes insipidus, diabetes mellitus, seizures, neurogenic bladder, stress child abuse Treatment: Education, avoiding judgment shame Limiting Liquids Awakening at night to void DDAVP Imipramine Bedwetting alarms, cognitive behavioral therapy cures two-thirds of cases Prognosis: Decrease by 1% to 2% each year, 70% dry by 3 years 90% dry by 6 years

An infant is noted to have absent femoral pulses. Blood pressures were obtained in the upper and lower extremities with a difference of 25 mmHg between the two. What is the most likely diagnosis?

Coarctation of the Aorta* Clinical Findings: Absent or diminished femoral pulses >20 mmHg difference between upper and lower extremity blood pressures (immediately after birth the pressures will be equal until the ductus arteriosus closes) Blowing systolic murmur heard best on the back or left axilla Diagnostic Test Findings: chest x-ray LV enlargement (in older child) Aorta proximal to coarctation may be prominent May see an indentation in the outline of the aorta at the level of the coarctation Notching of ribs (because of enlarge intercostal collaterals) EKG Older children: normal or LVH Infants: RVH ECHO with color-flow Doppler Can visualize the coarctation directly Treatment: Balloon angioplasty and/or surgical correction Recurrent coarctation may occur, which can be treated in cath lab, often by transcatheter stent placement Prognosis: If not correct before 5 years of age, there is a risk for systemic hypertension and myocardial dysfunction

A 15-year-old football player sustains a hard hit to the head with no loss of consciousness. He is now tearful and is complaining of a headache. He also reports feeling nauseous. What is the most likely diagnosis?

Concussion* A concussion is a mild traumatic brain injury with brief alteration of mental status. Loss of consciousness may or may not occur Clinical Findings: Headache Amnesia Nausea Vomiting No focal findings on neurologic examination Somatic, cognitive, and emotional effects may be present Diagnostic Test Findings: Ct scan is normal Treatment: Rest (both physical and mental) Prognosis: Because of the risk for second-impact syndrome, children and adolescents (and adults) should not return to sports until they are symptom free at rest and have progressed through a graduated return-to-play protocol

Newborn presents at birth with large tongue, umbilical hernia, hoarse cry, poor feeding, jaundice, and low tone. What is your diagnosis?

Congenital Hypothyroid * Clinical Findings: Thick tongue Large fontanelles Hoarse cry Poor tone Umbilical hernia Jaundice Growth retardation Diagnostic Test Findings: Total-T4 and Free-T4 levels are decreased Serum TSH elevated Circulating antibodies to thyroid perioxidase or thyroglobulin No imaging needed Differential Diagnosis: Transient hypothyroid in prematurity Sick euthyroid in ill infants Anal abnormalities such as hypothyroid/hyperparathyroid Neuromuscular (tethered spinal cord) Lead ingestion, botulism poisoning Treatment: Levothyroxine 10 to 15 mcg/kg/day lifelong Prognosis: Good if treatment started in first month of life Poor growth, motor and mental development if untreated

A 15-year-old girl presents with 4 weeks of irritability, anger outbursts, poor sleep, doing poorly in school, and increased headaches. What is your diagnosis?

Depression * Clinical Findings: Persistent state of unhappiness or misery that interferes with pleasure and productivity Irritable mood state with verbal outburst Change in behavior-social isolation, deterioration of school work, loss of interest in school work, and activities Anger, irritability Change in eating and sleeping patterns Recurring thoughts of death or suicide Nonspecific headaches an stomach aches Incidence: 1% to 3% before puberty, 8% adolescence Familial Male predominance until adolescence, then females 5x greater than males Diagnostic Test Findings: Screening tests, such as the children's depressive rating scale or Teen Screen, can be used to aid in diagnosis Differential Diagnosis: Dysthymic disorder, adjustment reaction with depressed mood, hypothyroidism Comorbid with ADHD, conduct disorder, anxiety, eating disorders, substance abuse Treatment: Cognitive behavior therapy Antidepressants with close monitoring 4 weeks to 3 months—watch for suicide ideation, usually need treatment for 6 to 9 months Prognosis: If not treated, concern for suicide, self-medication with drugs, later diagnosis of bipolar

A 14-year-old obese female presents with acanthosis nigricans. What disease is she at risk of having?

Diabetes Mellitus Type 2* Clinical Findings: Polyuria Polydipsia Strong family history Obesity Acanthosis nigricans Diagnostic Test Findings: Random glucose >300 or fasting >200 Glucosuria Insulin Level C-peptide level Ketones HbA1c Differential Diagnosis: Diabetes insipidus Treatment: Lifestyle changes—diet, exercise Metformin If severe presentation may need insulin Prognosis: Most common in adults >40, overweight Good with treatment above

A 14-year-old presents with nausea, diarrhea, dizziness, and painful menstrual cramping that usually lasts 2 to 3 days. What is the diagnosis?

Dysmenorrhea* Clinical Findings: Primary: most common gynecological complaint in 80% of females by 18 years, normal pelvic examination Nausea, vomiting, diarrhea ,headache, dizziness, back pain Secondary: underlying pelvic lesion—40% have endometriosis Diagnostic Test Findings: Pelvic examination—Gonorrhea/Chlamydia CBC ESR Pregnancy test Ultrasound/laparoscopy Differential Diagnosis: Infection Endometriosis Pregnancy Congenital anomalies IUD Pelvic adhesions Treatment: Nonsteroidal anti-inflammatory medication x2 to 3 days Oral contraceptives in problem cases Dependent on other causes Prognosis: Good

A 3-year- old boy on sulfa drug presents with pallor, jaundice, low hemoglobin, and high reticulocyte count. What is the most likely diagnosis?

Glucose-6- Phosphate Dehydrogenase (G6PD) Deficiency* Clinical Findings: X-Linked, African/Mediterranean/Asian Infants presents with hyperbilirubinemia Old children are asymptomatic and normal between episodes of hemolysis due to oxidant stress Pallor, jaundice, if severe cardiovascular compromise Diagnostic Test Findings: Hemoglobin, reticulocyte count, peripheral blood smear with bite r blister cells, reduced levels of G6PH in erythrocytes Deferential Diagnosis: Autoimmune hemolytic anemia Hemoglobinpathies Hereditary Spherocytosis Hypersplenism/liver disease Treatment: Avoidance of drugs (antimalarial or sulfonamides), food (fava beans), or acute infections If cardiovascular compromise, RBC transfusions Prognosis: Good with milder forms Kernicterus in infants Older Kids—Life- threatening rare variants Chronic hemolytic anemia—associated with splenomegaly and gallstones

63Q: A 12-year-old girl has always been on the small side. Her length followed the 3rd percentile during early childhood, but over the past 3 to 4 years, her linear growth has leveled off. What is the most likely diagnosis?

Growth Hormone Deficiency* Growth hormone (GH) deficiency is usually idiopathic, but it can also be hereditary (GH gene deletion, GHRH receptor mutation) or acquired 9tumor, such as craniopharyngioma, cranial irradiation). Clinical Findings: Slowed growth velocity Delayed skeletal maturation Normal birth weight, slightly reduced birth length Diagnostic Test Findings: Serum IGF-1 estimates GH secretion Deferential Diagnosis: Familial short stature Constitutional growth delay Idiopathic short stature Hypothyroidism Intrauterine growth restriction Chromosomal defects (Down syndrome, Turner syndrome) Treatment: Subcutaneous recombinant growth hormone administered daily Pearl: Growth hormone therapy is FDA approved for children with growth hormone deficiency, but also for patients with Turner syndrome, Prader-Willi, Noonan syndrome, and children who are born small for gestational age who are not catching up by age 4

A 14-year-old normal-weight boy presents with complaints of 2 cm lumps under his nipples bilaterally. No history of recent trauma or medications. What is the diagnosis?

Gynecomastia * Symptoms: Palpation of glandular tissue not adipose 2/3 have bilateral involvement Affects 65% of adolescent males, onset 6 months postsecondary sexual characteristics Diagnostic Test Findings: Laboratory studies are only indicated if gynecomastia is prepubertal or breast mass with rapid progression Thyroid function tests (TFTs)—hyperthyroidism Testosterone, estradiol, hCG, luteinizing hormone (LH), follicle-stimulating hormone (FSH—hormone producing tumor) Prolactin—pituitary tumors Klinefelter syndrome Treatment: Reassurance, monitoring clinically for 12 to 18 months Prognosis: Good, most regress within 1 to 2 years Persistence beyond age 17 is uncommon

A 17-year-old boy presents with vomiting, diarrhea, dark urine, and jaundice. What is the most likely diagnosis?

Hepatitis A* Clinical Findings: Vomiting Diarrhea Anorexia Jaundice Dark Urine Hepatosplenomegaly 2/3 are asymptomatic 2/3 of those who are symptomatic look like Acute Gastroenteritis (AGE) 15- to 40-day incubation exposure to seafood, water contamination fruits/vegetables, daycare, travel Diagnostic Test Findings: Increased LFTs Antihepatitis A (HAV) IgM Ab 1 to 4 weeks postinfection Deferential Diagnosis: AGE EBV Treatment: None Prognosis: Good, 91% get better Benign relapse 10% to 15%

A baby is born to a Hepatitis B positive mother. What is the best management step after birth?

Hepatitis B vaccine and Immune Globulin in different sites at same time. * Clinical Findings: Vomiting Diarrhea Fever Macular rash, urticaria Arthritis Jaundice Dark urine Tender hepatomegaly Rare glomerulonephritis/nephrotic syndrome 40- to 160-day incubation Diagnostic Test Findings: Increased LFTs HBsAg Anti-HBcIgM Anti-HBs/anti-HBcIgG Liver biopsy less useful Deferential Diagnosis: Hepatitis A, C, EBV, drug induced, autoimmune Hepatitis (AIH), Wilson disease, hemochromatosis, nonalcoholic fatty liver, α-1-antitrypisn Treatment: Supportive care, alpha interferon Nucleoside analogue, aziridine, etc. for progressive disease Prognosis: HBIG plus vaccine preferred method for prevention in infants born to an HBV-infected at birth will spontaneously seroconvert When HBV is acquired later in childhood 90% to 95% clear infection

A 2-month-old infant presents with undescended testes on the right. What is the best plan of management?

Observation until 6 months * Clinical Findings: Undescended testes in 3% of newborns at birth, increased in premature infants Diagnostic Test Findings: Ultrasound Plasma Testosterone after HCG administration Testosterone, LH, FSH If bilateral undescended testes need to rule out congenital adrenal hyperplasia Differential Diagnosis: Cremasteric reflex causing pseudocryptochidism Missing testicle due to agenesis/torsion Treatment: >50% of testes descend by 3rd month of life, 80% by 1 year Surgical orchidopexy at 1 year of age HCG 250 to 1000 IU twice weekly x 5 weeks Prognosis: If testes are not in scrotum, increased risk for infertility, inguinal hernia, or malignancy Pearl: Refer to urology any time after 5 months, but before 12 months

Newborn presents with abdominal wall contents in a membranous sac externally at birth. What is the diagnosis?

Omphalocele * Clinical Findings: Membrane-covered herniation of abdominal contents into base of the umbilical cord Associated anomalies—cardiac, gastrointestinal, chromosomal (trisomy 13, 15, 16, 18, Beckwith-Wiedemann) Sac at birth may contain liver, spleen, intestine 1/5000, advanced maternal age Diagnostic Test Findings: Elevated maternal serum alpha-fetoprotein Fetal karyotype Prenatal ultrasound Deferential Diagnosis: Gastroschisis Treatment: Cesarean delivery Covering abdominal wall defect with sterile dressing, warm water Intravenous fluids, glucose, antibiotics Nasogastric decompression Primary surgical closure Prognosis: 80% survival Multiple surgeries for larger defects Pearl: In comparison to omphalocele, gastroschisis does not include a membranous sac and only intestines extrude Extraintestinal anomalies are more common in infants with omphalocele, including congenital heart disease and diaphragmatic hernia Commonly associated syndromes include Beckwith-Wiedemann and trisomies

A 4-year-old boy is brought to the emergency department with a red and swollen right eyelid and fever. His father reports that the child has had a cold for the past 2 weeks. On examination proptosis is noted, as well as decreased eye movements and pain with eye movement. What is your diagnosis?

Orbital Cellulitis* Orbital cellulitis usually arises from contiguous sinus infection. Clinical Findings: Erythematous, edematous eyelid Proptosis Fever (can be high) Decreased vision Restricted eye movement Pain with eye movement Diagnostic Test Findings: CT scan or MRI to evaluate extent of infection Deferential Diagnosis: Neoplasm of orbit Orbital pseudotumor Orbital foreign body with secondary infection Treatment: Systemic antibiotics May require drainage for subperiosteal abscess May require drainage of infected sinuses Prognosis: Most patients do well with prompt treatment Pearl: Pathogens implicated in orbital cellulitis are those that cause acute or chronic sinusitis. Staphylococcus aureus is also a frequent cause

A 14-year-old boy comes to clinic with anterior knee pain and notes that there is an area of swelling and pain over his "upper shin bone." What is your diagnosis?

Osgood-Schlatter Disease * Osgood-Schlatter disease is an apophysitis of the tibial tubercle that occurs in sports that involve running and jumping. It is seen in boys ages 12 to 15 and girls ages 11 to 13 years. Clinical Findings: Swelling and pain over tibial tubercle Activity-related pain Diagnostic Test Findings: Radiographs are not necessary, but will show fragmentation or irregular ossification of the tibial tubercle Differential Diagnosis: Malignancy Tibial tubercle fracture Patellar tendonitis ("jumper's knee") Sinding-Larsen-Johansson disease Treatment: Pain control with NSAIDs Hamstring stretches may be useful Ice after works may be helpful decreased activity/rest will help, but the athlete should be allowed to participate in sports as tolerated Prognosis: Self-limited condition that will resolve as athlete reaches skeletal maturity In some cases, the swelling may persist, which is only a concern cosmetically Pearl: Other types of apophysitis: Slinding-Larsen-Joansson disease is an apophysitis of the inferior pole of the patella. Affects slight younger athletes, ages 9 to 12 years Sever's disease is a calcaneal apophysitis that causes heel pain in 8 to 12 years old athlete with high-impact activities (gymnastic, soccer)

A 14-year-old female runner presents with anterior knee pain. She does not recall injuring her knee, but has been experiencing pain with activity. What is most likely the diagnosis?

Patellofemoral Overuse Syndrome * It is common in patients who participate in running and other sports that involve repetitive stress. Clinical Findings: Anterior knee pain Sometimes swelling or crepitus Tight hamstrings Treatment: Physical therapy to address hip/core weakness (which causes altered knee biomechanics) Stretching and strengthening of hamstrings and quadriceps It athlete is overtraining, activities may need to be modified

On examination, a 7-day-old infant in the neonatal intensive care unit is noted to have a hyperdynamic precordium, diastolic hypotension, widened pulse pressure, and palmar pulses. A soft systolic murmur is heard. What is the most likely diagnosis?

Patent Ductus Arteriosus (PDA) * Ductus arteriosus normally closes by one week of age (with functional closure within 1 day of life). When clinically significant, a PDA will usually present on day of life 3 to 7. Clinical Findings: Hyperdynamic precordium Palmar or calf pulses ("bounding pulses") in young infants secondary to diastolic runoff Widened pulse pressure Hypotension Systolic heart murmur sometimes present (classic murmur is a continuous "machine-like" murmur, though in young infants it is often a soft systolic murmur) Diagnostic Test Findings: May see metabolic academia Chest x-ray will show diffuse haziness and increased heart size Treatment: Can be manage medically or surgically Indomethacin can treat PDA in premature infant Surgical ligation Device closure via cardiac catheterization Prognosis: Good prognosis when treated early Can cause left ventricular dysfunction if untreated Pearls: PDA is the congenital heart defect most often seen in a premature infant Maternal rubella syndrome predisposes infant to PDA

The medical assistant records the blood pressure in a child's chart. What variables need to be considered in order to interpret the blood pressure reading?

Pediatric blood pressure chart with percentiles based on height, sex, and age* In children, hypertension is usually renal in origin. To interpret a blood pressure, one must use a pediatric blood pressure chart with percentiles based on age and sex Clinical Findings: Systolic and diastolic blood pressure above the 90th percentile for age and sex Diagnostic Test Findings: Serum BUN, creatinine (if elevated, suggests underlying renal disease) Electrolytes (hypokalemic alkalosis could be due to hyperaldosteronism or pseudoaldosteronism) CBC UA Renal ultrasound with Doppler flow Causes: Renal parenchymal disease, coarctation of the aorta, endocrine causes, iatrogenic, essential hypertension Treatment: Angiotensin-conveting enzyme (ACE) inhibitors (captopril, lisinopril) are often effective in children, as most hypertension in children is of renal origin Beta-blockers (contraindicated in reactive airway disease) Vasodilators (minoxidil, hydralazine, hydrochloride) Treatment of hypertensive emergencies may include nifedipine, labetalol, sodium nitroprusside, furosemide, or hydralazine Prognosis: Varies based on etiology Pearl: Hypertensive children should be evaluated for renal, vascular or aortic abnormalities (thombrosis, neurofibromatosis, coarctation), and endocrine disorders (pheochromocytoma, primary hyperaldosteronism, pseudoaldosteronism, pseudohypoaldosteronism

A sexually active 17-year-old girl presents with abdominal pain, vaginal discharge, and fever. On examination, she has cervical motion tenderness and adnexal tenderness. The cervical specimens are negative for Gonorrhea and Chlamydia. What is the most likely diagnosis?

Pelvic Inflammatory Disease (PID)* PID is an inflammatory disorder of the upper female genital tract. Common organisms associated with PID are Neisseria gonorrhoeae and Chlamydia trachomatis, though the majority of cases are polymicrobial. Clinical Findings: Presence of abdominal pain + at least one of the following 3 signs: Cervical motion tenderness Uterine tenderness Adnexal tenderness Additional findings may be present: Fever >38.3°C Cervical or vaginal discharge Diagnostic Test Findings: Cervical infection with N. gonorrhea or C. trachomatis (though negative tests do not rule out PID) Elevated ESR and CRP Presence of abundant WBCs on saline microscopy of vaginal secretions Differential Diagnosis: Cystitis Constipation Ovarian cyst Appendicitis Treatment: Outpatient or inpatient treatment depending on circumstances Treated with oral or IV antibiotics *Treatment guidelines for PID are frequently updated. See www.cdc.gov/std/treatment for current recommendations Pearl: PID should always be considered on the differential diagnosis for the adolescent female with abdominal pain A woman can have PID even if labs are negative for Chlamydia and Gonorrhea

: A 14-year-old boy presents with a severe sore throat and high fever. He has difficulty swallowing due to pain, and is unable to open his mouth completely. What is your diagnosis?

Peritonsillar Cellulitis and Abscess Most common organism is β-hemolytic Streptococcus. Other causes include group D Streptococcus, S pneumoniae, and anaerobes. Clinical Findings: Severe sore throat Unilateral tonsillar swelling Unilateral soft palate edema Deviation of the uvula away from involved side Trismus (unable to open mouth completely) Dysphagia Drooling Fever Treatment: IV penicillin or clindamycin Incision and drainage of abscess if patient fails to respond to therapy in the first 12 to 24 hours Discharge on oral antibiotics once patient is afebrile for 24 hours an dysphagia is improved Prognosis: Good Recurrent peritonsillar abscesses are uncommon Pearl: It can be difficult to differentiate peritonsillar cellulitis from abscess. Treatment with IV antibiotics can often prevent suppuration

A 7-year-old boy is brought in for evaluation of 3 days of sore throat, low-grade fever, runny nose, congestion, and cough. His mother is concerned he might have "strep throat." What is your diagnosis?

Pharyngitis, viral* Clinical Findings: Sore throat Fever Other viral signs: cough, rhinorrhea, congestion Exudative tonsillitis may be present in infectious mononucleosis or adenovirus infection Vesicles (in herpangina or hand, foot, and mouth disease, both cause by Coxsackie virus [or other enteroviruses]) Treatment: Supportive Pearl: Over 90% of sore throat and fever in children is viral Pharyngoconjunctival fever is a condition characterized by exudative tonsillitis, conjunctivitis, lymphadenopathy, and fever. It is caused by adenovirus. As with other types of viral pharyngitis, treatment is suppor

An infant's newborn screen is positive for PKU. What is the treatment for this disorder?

Phenylalanine intake * PKU is a disorder of amino acid metabolism caused by decreasaed activity of the enzyme phenylalanine hydroxylase (which is responsible for converting phenylalanine to tyrosine). It is an autosomal dominant condition. Clinical Findings: The following are seen in untreated patients: Mental retardation Hyperactivity seizures Light complexion Eczema Diagnostic Test Findings: Elevated serum phenylalanine Elevate phenylalanie/tyrosine ration in a child on a normal diet Normal proterins Treatment: Dietary restriction of phenylalanine intake with goal of maintaining phenylalanine levels <360µM Prognosis: Early diagnosis and treatment presents mental retardation Pearl: Outcomes are best when treatment begins in first month of life If newborn screening is done before 24 hours of life, a second test should be done by the third week of life Phenylalanine restriction should continue through-out life -even after growth is not a concern, subtle changes in intellect and behavior can develop Adolescent girls should be counseled about the rick of maternal phenylketonuria

An 8-year-old girl presents with a rash on her back. She is afebrile. The rash consists of numerous pink, oval-shaped lesions occurring in lines. The child also has a large lesion on her left side that has a raised, scaly border with central clearing. What is your diagnosis?

Pityriasis Rosea * Clinical Findings: Pink or red ovoid plaques with fine scales that align with long axis parallel to skin tension lines Often pruritic Herald patch: a single, larger, scaling plaque with scaly border and central clearing that may precede the generalized rash by up to 30 days Distribution: lesions are primarily on trunk in whites, in blacks, lesions are more common on the extremities -may also have lesions in axillary and inguinal areas Differential Diagnosis: Ringworm (similar in appearance to herald patch) Secondary syphilis (if palm or sole involvement) Pityriasis lichenoides (last longer than 12 weekes) Treatment: No treatment is necessary Symptomatic treatment: oral antihistamines for itching Resolution of lesions may be accelerated by exposure to sunlight Prognosis: Lasts 6 to 12 weeks, resolves spontaneously If lesions last longer than 12 weeks, patient should be evaluated by a dermatologist

A 16-year-old girl is seen in adolescent clinic for evaluation of primary amenorrhea. She is noted to have a BMI at the 98 percentile and severe acne. She also complains that she has excessive body hair. What is your diagnosis?

Polycystic Ovary Syndrome (PCOS) * Clinical Findings: Amenorrhea (or oligomenorrhea) Hirsutism Acne Overweight/obesity May also have the following morbidities Type 2 diabetes mellitus Dyslipidemia Low self-esteem Diagnostic Test Findings: Pregnancy test Testosterone (total and free) is elevated Dehydroepiandrosterone sulfate (DHEAS) is elevated LH:FSH ratio is usually >2.5:1 Sex hormone-binding globulin (SHBG) Thyroid-stimulating hormone (TSH), lipid panel, 2-hour oral glucose challenge test Differential Diagnosis: Late-onset congenital adrenal hyperplasia Cushing syndrome Adrenal or ovarian tumor Treatment: Lifestyle changes to promote weight loss Oral contraceptives to improve menstrual regularity (will also decrease androgen production and increase SHBG) No current guidelines for use of insulin sensitizing medications (i.e., metformin) for treatment of PCOS in adolescents Prognosis: Adult reproductive health problems include infertility and endometrial cancer Weight loss can lead to improved menstrual regulation and decrease obesity-related comorbidities and infertility

A 9-year-old boy presents with snoring, frequent nighttime awakenings, daytime fatigue and poor school performance. What test should you order?

Polysomnogram* Clinical Findings: Snoring Labored breathing Frequent night arousals due to oxygen desaturations, daytime fatigue Diagnostic Test Findings (pulse oximetry alone is not enough): Polysomnogram: EEG, EMG, ECG Airflow at nose Gas exchange, end tidal CO2 Leg movements, muscular activity, body position Deferential Diagnosis: Significant external otitis media Parotitis Postauricular adenopathy Cellulitis Branchial clef anomaly Neoplasm Treatment: Adenotonsillectomy CPAC—continuous positive airway pressure Prognosis: Good, evaluation at a sleep disorder center is best, OSA is hard to decipher

The mother of a 4-month-old boy is concerned because the back of his head is flat. She reports she puts him "back to sleep" as instructed. How can positional plagiocephaly be distinguished from unilateral lambdoid Craniosynostosis?

Positional Plagiocephaly usually results in a head shape of a parallelogram.* An abnormal skull shape, often described as a "flattening" of a portion of the skull. Clinical Findings: Flattening of the posterior occiput Can be just one side of skull (especially with torticollis) Alopecia in the area that is flattened Differential Diagnosis: Craniosynostosis - particularly unilateral lambdoid craniosynostosis Treatment: Tummy time while observed Alternate position of baby's head while sleeping supine (alternate between baby facing left or right) Pearl: More commonly right-sided (left occiput anterior position in utero) Posterior positional plagiocephaly must be distinguished from unilateral lambdoid craniosynostosis. Plagiocephaly usually results in a head shape of a parallelogram when viewed from above, whereas lambdoid craniosynostosis is a trapezoid. In plagiocephaly, the ipsilateral ear is anterior, whereas in lambdoid craniosynostosis it is posterior. Ridging of sutures is sometimes seen in craniosynostosis but is absent in plagiocephaly

A 7-year-old with recent strep pharyngitis presents with swollen face and feet, dark-colored urine, headache, and hypertension. What is your diagnosis?

Post-streptococcal Glomerulonephritis* Clinical Findings: Recent history of Group A β-hemolytic Strep infection Increased ASO antistrip antibodies Gross hematuria -coffee- or tea-colored urine Hypertension, edema-periorbital, facial and extremities Diagnostic Test Findings: Microscopic RBC, too numerous counts, casts Can have proteinuria Complement C₃ normal Differential Diagnosis: Membranoproliferative glomerulonephritis Lupus glomerulonephritis Treatment: Antibiotics if infection still present Close monitoring Limit salt intake, diuretics, antihypertensives Renal failure - dialysis Corticosteroids Prognosis: 85% recovery in weeks If worsening, needs renal biopsy

A 5-year-old girl presents with breast development, pubic and axillary hair, and a recent growth spurt. Bone age is advanced. What is your diagnosis

Precocious Puberty (Girls)* Clinical Findings: Onset of secondary sexual characteristics before 6 to 8 years, benign slow progressing form Breast development, pubic/axillary hair 2 years later menarche, accelerated growth Central (Gonadotropin-releasing hormone [GnRH] dependent) usually idiopathic or central nervous system related: hypothalamic hamartoma, central nervous system tumor, cranial irradiation, hydrocephalus, trauma Peripheral: ovarian/adrenal tumors, ovarian cysts, congenital adrenal hyperplasia, McCune Albright Diagnostic Test Findings: Bone age If bone age advanced: FSH, LH, response to GnRH Estradiol levels -ovarian cyst or tumor Androgen and adrenal metabolites - 17 hydroxy-progesterone Imaging: MRI brain, ultrasound of ovaries/adrenals Differential Diagnosis: Normal variant Treatment: Central: leuprolide-GnRH analog Peripheral: treat underlying cause Prognosis: Good

A mother is delivering a baby with known hypoplastic left heart syndrome. What is the first life-saving treatment for this infant (prior to surgery)?

Prostaglandlin infusion* Hypoplastic left heart syndrome (HLHS) is usually diagnosed prenatally by fetal echocardiography. Initiation of Prostaglandin E1 is lifesaving to maintain the PDA and preserve systemic circulation. Clinical Findings: Mild cyanosis at birth Initially appear stable due to patent ductus Rapid deterioration as ductus closes Diagnostic Test Findings: Chest radiograph may appear normal initially, but as ductus closes, will show cardiac enlargement with severe pulmonary venous congestion EKG: right axis deviation, right atrial enlargement, RVH ECHO: hypoplastic aorta and left ventricle. Mitral and aortic valves are atretic or severely stenotic Treatment: PGE1 initially to maintain patent ductus arteriosus Surgical procedures: Norwood procedure Blalock-Taussig shunt or sano shunt Glenn anastomosis Fontan procedure Orthotopic heart transplantation for infants who are poor Norwood candidates or after failed surgical palliation Hybrid approach with collaboration between surgeons and interventional cardiologists Prognosis: HLHS is considered one of the most challenging conditions in pediatric cardiology Survival after Norwood is 60% to 70% at 5 years Transplantation survival rates is slightly better than Norwood, but overall mortality rate is 72% at 5 years given mortality risk while awaiting transplant No long-term data for hybrid approach

A 5-year-old presents with abdominal pain. He has intermittent straining with stooling and often has soiling in his underwear. He cannot remember when he has his last stool. What is the next best step?

Relieve the constipation with polyethylene glycol * Clinical Findings: <3 bowel movement per week Grunt, strain, and pain with defection Impaction of rectum with stool More than 1 episode of encopresis Diagnostic Test Findings: Abdominal radiograph: abundant stool, intestinal obstruction Guaiac positive if anal fissure Differential Diagnosis: Hirschsprung disease Anal abnormalities Endocrine abnormalities such as hypothyroid/ hyperparathyroid Neuromuscular (tethered spinal cord) Lead ingestion, botulism poisoning Treatment: High-fiber foods Barley malt extract or polyethylene glycol Stool softener Stimulant laxatives Enema Prognosis: Variable success rates, follow-up is important Recurrence is common for those with encopresis

A 7-year-old boy is brought in for evaluation of 3 days of sore throat, fever, stomachache and a headache. He has had minimal runny nose, but no cough. His mother is concerned he might have "strep throat." What is your diagnosis?

Streptococcal Pharyngitis * Clinical Findings: Sudden onset of sore throat Fever (usually >38.3°C) Headache Tonsillar exudates Palatal petechiae Beefy-red uvula Cervical lymphadenopathy (lymph nodes tender or >2 cm) Diagnostic Test Findings: Positive rapid antigen test or culture for group A β-hemolytic Streptococcus Treatment: Antibiotic treatment prevents the development of acute rheumatic fever and superlative complications Penicillin (oral or IM) or a cephalosporin. Amoxicillin may also be used Pearl: Over 90% of sore throat and fever in children is viral Presence of cough, conjunctivitis, hoarseness, symptoms of URI are suggestive of viral cause While palatal petechiae, beefy-red uvula, and tonsillar exudate suggest strep infection, a throat culture or rapid antigen test should be performed for definitive diagnosis Viral causes of tonsillar exudates include EBV (infectious mononucleosis) and adenovirus No group A Streptococcal species have developed resistance to penicillin or cephalosporins

20% of obese 4-year-olds will become obese adults

T Clinical Findings: 17% of 6 to19 year olds BMI between 85-95th percentiles is considered overweight. BMI greater than 95th percentile is considered obesity. BMI greater than 99th percentile is referred to as severe obesity Hypertension Fatty liver GERD Gallstones Constipation Acanthosis nigricans Depression/ anxiety Diagnostic Test Findings: Lipid profile (dyslipidemia is common) ALT (elevated ALT may suggest nonalcoholic fatty liver disease Fasting glucose, HgA1c (evaluate for Type 2 diabetes) Other studies may be warranted based on history and physical Treatment: Diet Behavior change Exercise Prognosis: Predictable in adulthood, eg, 20% of 4 year olds, 80% of adolescents Pearl: Complications of obesity include obstructive sleep apnea, polycystic ovarian syndrome (PCOS), pseudotumor cerebri, slipped capital femoral epiphysis (SCFE), blount disease, hidradenitis suppurativa, and depression/anxiety

A 2-year-old boy is diagnosed with an IgE-mediated allergy to egg. A 5-year-old-boy is diagnosed with an IgE-mediated allergy to peanuts. Which of these boys is likely to have their respective food allergies as adults?

The peanut allergy* Food allergies can be IgE-mediated, missed IgE-, and non-IgE-mediated. Clinical Findings: IgE-mediated: immediate GI anaphylaxis, urticarial, angioedema, flushing, wheezing, anaphylactic shock Mixed IgE-mediated: eosinophilic esophagitis atopic dermatitis, asthma Non-IgE-mediated: contact dermatitis, food protein induced enterocolitis/ proctocolitis/ enteropathy Allergy Testing: Prick skin testing can rule out suspected food allergen Food-specific IgE levels for milk, egg, peanut, and fish correlate to >95% chance of reaction Double-blind, placebo-controlled food challenge is considered gold standard Treatment: Elimination and avoidance of foods that are known to cause allergic reaction Patients with IgE-mediated allergy should carry self-injectable epinephrine (EpiPen) and a fast acting antihistamine Serial food-specific IgE levels can be followed and food challenges can be performed when indicated Prognosis: Good if offending food is avoided Accidental exposure in severely allergic patients can result in death Most children outgrow food allergies to milk, egg, wheat, and soy Only 20% of children outgrow peanut allergy, 10% outgrow tree nut allergies Approximately 3% to 4% of children will have food allergy as adults

A 2-year-old girl throws tantrums and she gets so angry that she holds her breath and turns blue. Mother of child heard that vitamins may help. Is that true?

True Breath-holding spells occur in 0.1 to 5% of children 6 months to 6 years of age. They are normal appearing healthy children on examination. Clinical Findings: Range of color changes, pallor to cyanosis Occurs at expiration and is reflexive and not volitional Spell resolves spontaneously or patient may lose consciousness More severe case involve going limp, body jerks, and even urinary incontinence Diagnostic Test Findings: CBC to evaluate for iron deficiency EEG and ECG not necessary in moth cases Differential Diagnosis: Seizures, orthostatic hypotension, long QT syndrome, obstructive sleep apnea, tumors or abnormalities of central nervous system, familial dysautonomia, Rett syndrome Treatment: Association with PICA and iron deficiency anemia Behavioral, no prophylaxis Occasionally may need oral airway Prognosis: Good, no long term seqelae

A 3-year-old child is noted to crave cold water and has polyuria. He is hospitalized for a water deprivation test. What urine specific gravity and osmolality is diagnostic of diabetes insipidus?

Urine specific gravity <1.010, urine osmolality <300 mOsm/kg* Clinical Findings: Polydipsia-children often crave cold water Polyuria (>2 L/m2/day) Nocturia Dehydration Diagnostic Test Findings: Hypernatremia Hyperosmolality After water deprivation test: Serum osmolality <600 mOsm/kg is diagnostic. Urine specific gravity <1.010, urine osmolality <300 mOsm/kg Low-serum vasopressin (and then an antidiuretic response to vasopressin administration) distinguishes central from nephrogenic DI Head MRI to evaluate for tumor or infiltrative process. Posterior pituitary is often absent Treatment: Access to water (so child can self-regulate) Oral or intranasal desmopressin acetate (DDAVP) for children with central DI Infants are treated with extra free water (not DDAVP) so that they do ot become dehydrated

Newborn born to a Hepatitis C positive mother. Is it safe for this infant to breastfeed

Yes * Clinical Findings: Vomiting Diarrhea Jaundice Dark urine Tender hepatomegaly Diagnostic Test Findings: Increased LFTs Anti-HCV HCV RNA by PCR Liver biopsy in chronic cases Deferential Diagnosis: Hepatitis A, B, EBV, drug-induced hepatitis, autoimmune hepatitis (AIH), Wilson disease, hemochromatosis, nonalcoholic fatty liver, α-1-antitrypsin Treatment: Supportive care α-interferon not studied in children sustained responses 30% to 50% Liver transplantation with antivirals pre- and postsurgery *no contraindication to breastfeeding Prognosis: Poorer genotype 1a or 1b, good genotype 2 and 3 Rare cirrhosis in children 5% of those vertically acquired get infected 30% spontaneously clear infection by age 2 20% of adults with chronic HCV develop cirrhosis by 30