Peds Yo

Hodgkin lymphoma

*Associated w/ EBV*. Slow, indolent onset of symptoms - painless lymphadenopathy, usually supraclavicular & cervical. B symptoms relatively common, more so than w/ NHLs Diagnosed on lymph node biopsy w/ *Reed Sternberg* cells Stage I: one lymph node Stage II: two lymph nodes, same side of the diaphragm III: >2 lymph nodes, different side of diaphragm IV: disseminated, extranodal involvement Tx w/ chemo and radiation. Radiation can cause growth retardation, secondary malignancies, hypothyroid, *male sterility - very common*

hemorraghic disease of the newborn

*classicaly occurs in 1st week of life*, but can also occur within 1 day or later after a couple months classicaly presents w/ cutaneous bleeding, hematemeisis, and bleeding from circumcision or umbilical cord *prevent with IM injection of Vit K*

Trisomy 13 cancer predisposition

associated w/ leukemia & teratoma

Varicella Vacinne

*live attenuated* avoids chicken pox since it can (rarely) cause severe illness in very young or older patients given @ 12-18 mo

MMR vaccine

*measles* - severe illness, can cause a deadly pneumonia *mumps* - usually just parotitis but can cause meningitis & orchitis *rubella* - mild infx but birth defects are bad *live attenuated vaccine* given at 12-15 mo w/ booster at 4-6 years or 11-12 years old

Signs & symptoms of anemia

*mild*: pallor *moderate* - weakness, fatigue, irritability, tachy, tachypnea, anorexia, systolic murmur *severe* - CHF, cardiac dilation, SOB, hepatosplenomegaly in adolescents, *spoon shaped nails* and diminished ability to learn

Acute lymphoblastic leukemia

*most common childhood cancer*, peak incidence between 2-6 years old *Cell morphology* - classified with L1, L2, or L3 - L1 most common. L1 lymphoblasts are small with little cytoplasm *most common immunophenotypeis PRE-B CELL* - most of these are CALLA-positive T cell is next most common, followed by mature B cell *symptoms*: classic symptoms like fever, bone pain, lyphadenopathy, testicular pain, etc. *anemia and thrombocytopenia* are most common lab findings - WBCs can be anything. lymphoblasts often seen on cbc w/ diff Treated w/ chemotherapy in 3 stages *induction, consolidation, and maintenance*. Good survival

VWF disease

*most common hereditary bleeding disorder* - autosomal dominant *type 1 - classic type* - mild deficiency of VWF. usually w/ mild mucocutaneous bleeding - nose, periods, bruising, gums. prolonged bleeding time and APPT is usually there, but not always w/ mild disease. *get quantitative assay for VWF antigen & activity*

chronic benign neutropenia of childhood

*noncyclic neutropenia* - variable course, usually just increased incidence of mild infections. Labs show low ANC w/ normal or slightly low WBC. Usually resolves spontaneously

transient erythroblasopenia of childhood

*red blood cell aplasia* characterized by anemia, reticulocytopenia, & paucity of RBC precursor in marrow* idiopathic, maybe postviral. slow onset, classic signs of anemia. gradually resolves in several weeks, no tx required

sickle cell

*should be a glutamic acid, but in sickle cell it gets substituted for a valine*. substitution on 6 position of beta chain - causes stacking/polymerization of Hgb in reponse to low O2 or acidosis >> sickling diagnosed w/ newborn screening Symptoms can start presenting at 6 mo of age, when Hgb F disappears. Bone crisis, abomdinal crisis, STROKE, priapism, acute chest syndrome, sequestration crisis, aplastic crisis, hyperhemolytic crisis - treat crises w/ pain control, aggressive fluid management, *incentive spirometry*, and partial exchange transfusion most common cause of death is *infection* by encapsulated bacteria - sepsis, meningtisi is developed usually in <5 years of life *howell-jolly bodies on peripheral smear* for preventive care, give *hyrdoxyurea* (increases Hgb F), daily penicillin prophylaxis (strep), folic acid, immunizations, and *serial transcranial doppler u/s for stroke risk*

Klinefelter syndrome cancer predisposition

associated w/ leukemia, germ cell tumors, breast cancer

Fragile X Syndrome

-"Fragile site" - Unstable CGG repeat on chromosome X - X-linked disorder -*most common inherited mental disability*; -delayed speech and language, lax ligaments, large heads, long face, *large ears, large testes,* ASD behavior -Mainly affects boys, girls have less profound phenotype

benefits & drawbacks of circumcision

-*un-circumcised* - slightly ^ risk of penile cancer & cervical cancer in partners. UTIs 10x more common in infants despite this, circumcision for medical reasons is not recommended. only do it if you like the way it looks Complications of circumsision: bleeding, infection, looks bad, phimosis, urinary retention, injury to urethra Contraindicatioins: bleeding diathesis, hypospadias, & *prematurity*

Turner Syndrome

-1/2500 females -2/3 are (45,x) -Short stature, poorly developed lymphatics (edema and neck webbing), broad chest, cubitus valgus, amenorrhea and infertility due to *ovarian dysgenesis* -Heart defects include coarctation of the aorta & *left-sided heart defects* (different from Noonan) -Hypothyroidism

Klinefelter Syndrome

-1/500 live born males - *most common cause of male hypogonadism & infertility* -47,XXY - maternal nondisjunction -Eunuchoid habitus (tall, slimb body) with long limbs, truncal obesity, gynecomastia, personality/behavior problems, small testes, small penis, and infertility

Down syndrome

-1/700 live births - most common trisomy -Increasing maternal age contributes risk -Epicanthic (upper eyelid) folds, up slanting palpebral fissures (space between eyelids), midface hypoplasia, low set small ears, brushfield spots, short hands with single palmar crease -May have congenital heart defects (endocardial cushion), intellectual disability -*Duodenal atresia!!*, pyloric stenosis, Hirschsprung's Complications: Atlantoaxial cervical spine instability Celiac disease, hypothyroidism Early alzheimer's disease OSA Cataracts, glaucoma, refractice errors

Plagiocephaly

-Assymetry of the head shape, not associated w/ suture closure -Most common is *positional*, where babies spend too much time on their back - *results in ipsilateral occipitolateral flattening, and contralateral occipitolateral bulging* - head is shaped like a paralellogram from the top // -can be associated w/ congenital muscular torticollis -ROM exercises for torticollis, tummy time & repositioning for positional causes; helmet therapy

Marfan syndrome

-Autosomal dominant, complete penetrance -Mutations in *FBN1 gene on the 15th chromosome* that codes for fibrillin -Primarily affects *ocular, cardiovascular, & skeletal systems* -Heart: Aortic dilate, dissection (tears), aneurysms, mitral valve prolapse, aortic regurg -Eye: Myopia, *upward* dislocated lenses -Skeletal: tall, thin, scoliosis; decreased U/L ratio -Mutations are family specific - not the same for everyone; allelic heterogeneity Avoid dissection w/ Beta blockers & avoidance of contact sports. Give endocarditis prophylaxis & regular eye exams

Williams syndrome

-Deletion on *chromsome 7* that deletes the elastin gene -Autsomal dominant -Stellate iris, periorbital fullness, prominent lips, hypercalcemia in infancy, cardiac defects, mild ID, extremely talkative -supravalvular aortic stenosis, connective tissue abnormalities

DTaP Special precautions

-Encephalopathy within 7 days of vaccine -Temperature >40.5 within 48 hrs -Collapse or shocklike state <48 hrs -seizures in <3 days -persistent inconsolable crying within 48 hrs

Osteogenesis imperfecta

-Group of inherited bone disorders that predispose to easy fracturing and skeletal deformity -Majority of cases caused by a dominant mutation to *type 1 collagen* (COL1A1 or COL1A2) genes - major structural protein of bone & other fibrous tissues -Symptoms: blue sclerae, gray-blue teeth, easy bruising Complicated w/ early conductive hearing loss & skeletal deformities

Velocardiofacial syndrome

-Interstitial deletion of the long arm of chromosome 22 at q 11 -Long face, square nasal root, cleft palate, immunodeficiency, hypocalcemia, cardiac defects, low IQ, psychiatric disorder -essentially the same as DiGeorge

Cri-du-chat syndrome

-Partial deletion of distal p arm of chromosome 5; -Cat like cry, hypertelorism (wideset eyes), poor growth with microcephaly, heart defects, severe ID

Wolf-Hirschhorn syndrome

-Partial deletion of distal p arm of chromsome 4 -Greek helmet facial type, cleft lip/palate, poor growth with microcephaly, heart defects, severe ID

Achondroplasia

-Single mutation that is autosomal dominant although it's often sporadic -Narrow range of expressivity, lethal double dominant -*Rhizomelia*, large brain, kyphosis in infancy and *lordosis in adulthood*, trident shaped hands -Recurrent otitis media w/ conductive hearing loss -*Foramen magnum stenosis* which can lead to hydrocephalus, cord compression (sweating, dilated facial veins), and SIDSs in babies

Trisomy 13

-Trisomy 13 -*Midline defects* of face & forebrain -cleft lip and palate, malformed ears, cutis aplasia, polydactyly, holoprosencephaly, microphtlamia

Trisomy 18

-Trisomy 18; second most common trisomy -Clenched fist w/ overlapping digits, *rocker-bottom feet*, small mouth, pointed ears, short sternum, scissoring of the lower extremities -Lethal condition - extremely short life span due to aspiration, apnea, heart defect; die within 1 year

Angelman syndrome

-exact opposite of prader willi; maternal deletion in AS region of 15 q -or, two paternal copies, still no AS expression -Another example of genomic imprinting -*happy puppet syndrome* - inappropriately happy, laughing smiling, ataxic gait, seizures, severe ID, blond hair, blue eyes, wide spaced teeth Diagnosis w/ FISH

Prader-Willi syndrome

-example of uniparental disomy in which you get copies from the parent whose genes end up being imprinted -*paternal deletion* in 15q11-13 leading to no functional expression of PWS gene - -hypotonia, short stature failure to thrive in first year of life followed by rapid weight gain at 2-4 years; obesity, hypogonadism (small penis and testes), mild to moderate ID Complications: developmental delay from hypotonia >> poor feeding, OSA, CVD & T2DM

Prevnar

Given to prevent strep pneumo infections - *the most common cause of acute otitis media & invasive bacterial infections in kids <3 yo* Only covers 7 serotypes - *less coverage, but can be used in kids <2 yo, unlike pneumovax* given to all children <2 yo at 2, 4, & 6 mo. With a booster at 12-15 mo

Microcephaly

2-3 SD below the mean for age. -Can be *congenital* (born w/ small head) or acquired (born w/ normal head then stops growing) -small head = small brain; developmental delay and ID; sometimes cerebral palsy/seizures

Down syndrome cancer predisposition

associated with ALL or AML With AML, most commonly the M7 (megakaryocytic) subtype - responds extremely well to bone marrow transplant for unknown reason

Ataxia Telangiectasia

Autosomal recessive disorder w/ *combined immunodeficiency* cerebellar ataxia, oculocutaneous telangiectasias, & cancer predisposition* - Hodkin & NHL, leukemia, sarcoma Caused by mutation in chromsome 11. Majority of patients have *low IgE & IgA* Tx neurologic complications, treat infections, monitor for cancer, and *avoid radiation*

Schwachman diamond syndrome

Autosomal recessive exocrine pancreatic insufficiency, short stature caused by metaphyseal chondrodysplasia, & failure to thrive & recurrent infections common *Defective neutrophil chemotaxis & cyclic neutropenia* >> recurrent soft tissue infection & chronic diarrhea

Neurofibromatosis Type I

Autsomal dominant. *Cafe-au-lait spots*, axillary/inguinal freckles, neurofibromas, *Lisch nodules*, weird bone lesions, scoliosis,HTN, learning disability. Intracranial calcifications & CNS neurofibromas often lead to seizures Associated w/ brain tumors, lymphoma, leukemia, malignant swchwannoma

Tooth eruption

Average 6 mo at first tooth eruption; usually a lower central incisor *Primary teeth* - 20 in total. usually there by 2yo *Secondary teeth* - 32 in total. usually eruption occurs b/w 6 & 8 yo Delayed eruption - AFTER 16 mo : can be familial, hypothyroidism, down syndrome, or ectodermal dysplasia Early eruption - before 3 mo : can be familial, hyperthyroidism

autoimmune hemolytic anemia

Antibodies misdirected against RBCs cause this Can be *primary - idiopathic usually* Or *secondary* to something like lymphoma, lupus, or immunodeficiency. *fulminant acute type* comes on suddenly, preceded by URI, and responds well to steroids w/ complete recovery expected. *prolonged type* has protracted course, hight mortality. poor response to steroids

Turner syndrome cancer predisposition

Associated w/ gonadoblastoma

Acquired causes of microcephaly

BORN WITH NORMAL SIZED HEAD, STOPS GROWING Late 3rd trimester or perinatal infections meningitis during 1st year of life Hypoxic/ischemic insult Metabolic derangmenets (hypothyroid, errors of metabolism)

Pneumovax

Given to prevent strep pneumo infections - *the most common cause of acute otitis media & invasive bacterial infections in kids <3 yo* polysaccharide antigen that protects against 23 serotypes - *broad coverage, but can't be given to kids <2 yo due to lack of immunogenicity* used for older kids @ high risk for pneumococcal diseae (asplenic,nephrotic syndrome, etc)

Passive immunizations

Giving IVIG/specific antibodies to someone exposed to a pathogen w/ a high risk of developing severe disease can be done w/ varicella immunoglobulin, hepatitis B IG if the mom was infected, or HEP A before travel

Polycythemia

Central venous hematocrit > 65% Usually caused by placental insufficiency, hypoxemia, delayed cord clamping, or cyanotic heart disease. *Plethora*, poor perfusion, *cyanosis*, poor feeding, distress, jittery, renal v. thrombosis, acidosis. Increased risk of *necrotizing enterocolitis* Tx w/ *partial exchange transfusion* - remove blood and add back equal amount of NS *make sure you rule out relative polycythemia - increased RBC mass from decreased plasma volume - aka DEHYDRATION

Failure to thrive

Common type of growth disturbance Growth rate less than what is expected Weight gain is usually most abnormal, followed by length, then head circumference -*Most commonly inorganic* - neglect, poor feeding, drug use by the parent -*organ causes* require a greater workup Best evaulated w/ a good Hx and PE - *routine screening tests not useful*. Prenatal or perinatal onset?

Glanzmann's thrombasthenia

Congenital cause of qualitative platelet disorders. autosomal recessive *mutation in GP IIb/IIIa*

Fluorosis

Consequence of excess fluoride - cosmetic only Causes white streaks, pitting, or brown/gray staining on *permanent teeth* MOST VULNERABLE b/w 2 and 4 years of age ' Fl- supplements should still be given to kids who only breastfeed >6 mo, or those who live in areas w/ low levels of Fl in the water

Hepatitis B vaccine

Given because it infects a ton of ppl worldwide -*recombinant vaccine* w/ parts of the HBsAg -given as a 3 shot series within first year of life

inactivated polio vaccine (IPV)

Given subcut or IM. No herd immunity like with OPV, but it won't cause vaccine-related polio Given at 2 & 4 months, and then boosters at 6-18 mo & 4-6 years

Macrocephaly

Head circum > 95% for age. *Unlike microcephaly, doesn't necessarily reflect changes in brain size* Can be familial (normal), overgrowth syndromes (Sotos - everything is big), metabolic storage disorders, neurofibromatosis, achondroplasia, hydrocephalus, or cysts/tumors/etc Keep an eye out for signs of elevated ICP - vomiting, irritability, bulging fontanelles. CT to rule out hydrocephalus, genetic eval if suspected

Cartilage hair hypoplasia syndrome

autosomal recessive disorder with short stature, immunodeficiency, fine hair, and *neutropenia*

Hep A vaccine

Inactivated vaccine, given to prevent most common viral hepatitis worldwide (although often asymptmatic in kids) recommended for kids 2 yo or older if they live in a susceptible area, travel to an endemic area, or get lots of blood transfusions

Microangiopathic hemolytic anemia

Mechanical damage to RBCs when passing thru injured endothelium. HUS, severe HTN, artificial valves, giant hemangiomas, DIC smear shows *burr cells and target cells*

ABO hemolytic disease

Mom is Group O, baby is A or B or AB. Mom makes Abs against baby. unlike Rh hemolytic disease, this can *occur on the 1st pregnancy and Coombs test is weakly positive* Tx w/ phototherapy for mild cases or transfusion for severe

acute myelogenous leukemia (AML)

Most commonly idiopathic but can be associated w/ down syndrome, fanconi, kostmann, neurofibromatosis I seven subtypes, with m1-m5 being the most common. M3 (promyelocyte) is the one w/ auer rods. M7 (megakaryocyte) is most commonly associated w/ down syndrome) similar signs as ALL, except *CNS involvement is more common and testicular involvement & lymphadenopathy are less common* Diagnosis is found on blood smear with *myeloblasts* and *auer rods* Unlike ALL, *bone marrow transplant* is a must, preferably by an HLA-matched donor

Iron-deficiency anemia - risk factors & screening

Most commonly occurs in children *<6 yo* (same as lead poisoning) *risk factors* include prematurity (<37 wks), low birth weight, cow's milk before 9 months, insufficient dietary intake, low SES Universal screening recommended between 9-15 months, and later b/w 4-6 yo

Reasons why uncircumsized males eventually have to get circumsized

Occurs in 10% of uncircumsized *Phimosis* - inability to retract foreskin. Normal up to 6 yo!!, but not good if penis balloons w/ urination *paraphimosis* - retracted foreskin can't be return to normal position & acts as a tourniquet -surgery needed *balantitis* - inflammation; candida, GNRs in infants

protein C deficiency

Most potent anticoagulant known. Homozygotes develop *purpura fulminans* which is a rash w/o thrombocytopenia. fever, shock, rapidly spreading skin bleeded and intravascular thrombosis

Non live immunizations

Not infectious but boosters are required DTaP, hepatitis A & B, inactivated polio, haemophilus B, influenza, strep pneumonia, meningitis often cause mild/moderate reactions in the hours following injection - fever, local redness/swelling - not a contraindication

TB screening

PPD skin test recommended in kids at HIGH RISK - contacts w/ confirmed/suspected cases, in contact w/ high risk groups (prisoners, homeless, drug users), immigrants, HIV + read in 48-74 hrs after placement

Craniosynostosis

Premature closure of 1 or more sutures -*Vast majority are sporadic*; some are associated w/ genetics like Crouzon or Apert syndromes -can also be cause by uterine crowding, metabolic abnormalities (hyperthyroid, hyperCa2+) *Sagittal suture* >> elongated skull, MOST common (called dolichocephaly/scaphocephaly) *Coronal suture* >> shortened skull (brachycephaly) - more common w/ boys & optic nerve atrophy *Metopic suture* >> trigonocephaly (pointed forehead) Diagnosed on physical exam, usually noted by 6 months. Confirmed on imaging. *Management* - surgical repair for cosmetic concerns

Hemophilia lab features

Prolonged aPTT Normal PT NORMAL BLEEDING TIME normal platelet count no petechiae Yes to hemarthroses

von willenbrands lab features

Prolonged aPTT Normal PT Prolonged bleeding time (platelets cant adhere to wall) normal platelets no petechiae rarely hemarthroses most often presents w/ mucocutaneous bleeds and menorraghia in females

Cyclic neutropenia

Regular episodes of neutropenia - cyclic alterations in count. Fever, oral ulcers, & stomatitis may occur during neutropenia. Usually lasts for about 21 days Obtain serial neutrophil counts

Lead intoxication - acute & chronic

Risk factors: paint ingestion, drinking water, exposure to smelters, pottery, folk remedies *children <6 yo are most susceptible to the effects* *acute* - anorexia, apathy, lethargy, anemia, irritability, colicky ab pain, vomiting. can progress to encephalopathy *chronic* - usually asymptomatic but even low levels can cause neuro problems - developmental delay, learning problems, MR peripheral blood smear shows *basophilic stippling* & microcytic enemia. On abdominal radiograph, look for *lead lines* Management: education, decreased exposure, chelation in severe cases

alpha thalassemia

Southeast asians minor - 2 mutations; mild anemia Hgb H disease -three mutations. *severe anemia @ birth* with an elevated Hgb Bart's (essentially like myoglobin, never lets go of O2) Fetal hydrops - death from profound anemia & CHF

TORCH Infections

Toxoplasmosis Other (syphilis, varicella, parvo B19) Rubella CMV Herpes Most common infections associated w/ congenital abnormalites

DIC

Triggering event (large hemangiomas, sepsis, hypothermia, heat rash, cancer) causes clotting, which then consumes all factors & leads to bleeding *thrombocytopenia, long PT and aPTT, low clotting factors, increased D-DImer, fragments on smear treat underlying cause, give fibrinogen, FFP, platelets as needed

Wiskott-Aldrich Syndrome

X-LINKED COMBINED IMMUNODEFICIENCY Characterized by thrombocytopenia w/ SMALL platelets, *eczema*, defects in T and B cell immunity - which can therefore cause leukemia and lymphoma *Susceptible to encapsulated organisms* due to defective antibody response to polysaccharide antigens Tx w/ *HLA-matched bone marrow transplant*. Splenectomy will cure thrombocytopenia.

Hemophilia A

X-linked, favor VIII defienciy. prolonged APPT. hemarthroses and deep soft-tissue bleeding. lifelong risk of severe bleeding. can be severe, moderate, or mild (only after surgery or major trauma). Platelet function totally normal. Prevent trauma, replete VIII, and desmopressin if mild

x-linked lymphoproliferative disease

assicated w/ EBV; may result in lymphoma

Trisomy 18 cancer predisposition

associated w/ Wilm's tumor, neurogenic tumors

neurofibromatosis type I cancer predisposition

acoustic neuroma

Neonatal metabolic screening

all states test for *congenital hypothyroidism, PKU, & galactosemia* - treatable, serious if left untreated Most test for *sickle cell* so they can give penicillin prophylaxis if +

live vaccines

better lasting response, more risk of infection. DON'T GIVE to anyone with compromised immunity (cancer, congential, drug-induced) Can cause mild side effects (fever, rash) delayed - *1-2 weeks after immunization* (after virus has incubated) Ex. oral polio, varicella, MMR

Beckwith-Wiedemann syndrome

congenital overgrowth syndrome characterized by *huge tongue*, small body, and umbilic hernia, distinctive ear creases, hemihypertrophy *associated w/ Wilm's tumor, hepatoblastoma, rhabdomyosarcoma, & adrenocortical carcinoma* Can have persistent neonatal hypoglycemia from *hyperinsulinism*

congential causes of microcephaly

congential = BORN W/ SMALL HEAD Early prenatal infection (TORCH) Maternal exposure to drugs/toxins (FAS) Chromsomal abnormalities familial maternal PKU

Congenital Hypoplastic Anemia (Diamond Blackfan)

cute taylor swift fan girl can be idiopathic or familial. a *red blood cell aplasia* characterized by anemia, reticulocytopenia, & paucity of RBC precursor in marrow* Tx w/ steroids and bone marrow transplant if no respnse

DTaP vaccine

includes diphtheria toxoid, tetanus toxoid, and acellular pertussis vaccine (whole-cell not used in US due to high rate of side effects) DTaP recommended @ 2, 4, & 6 months. Then boosters at 12-18 months, & 4-6 years dT (no pertussis) recommended at age 11-12, then every 10 years after. *only given to children > 7 yo*

MELAS - mitochondrial encephalopathy with lactic acidosis and stroke like episodes

mitochondrial myopathy, seizures, mental retardation, lactic acidosis, short stature, repeat vomiting -up to 1% of general population w/ diabetes attributed to same mutation

chronic myelogenous leukemia (CML)

least common type of leukemia. *Adult-type* - 2x more common than juvenile type. 9:22 translocation. *massive splenomegaly and extremly high WBC (>100,000). Tx w/ imatinib *Juvenile CML* - Presents with fever and *chronic eczema like facial rash*, suppurative lyphadenopathy, petechiae, purpurpa. *WBCs are usually elevated but not as extreme as the adult type (<100,000). Prognosis is not good

oral polio vaccine (OPV)

live attenuated vaccine taken as a pill. Shed in the stool, so can infect and immunize others (herd immunity) low incidence (but possible) to get actual polio from this so it's no longer used

parvo b19 red cell aplasia

may have preceding signs of Fifths disease (uri, slapped cheek appearance) followed by anemia. usually spontaneus recovery unless the patient has sickle cell - aplastic crisis.

beta thalassemia

mediterranean *major* - 2/2 mutation. hepatosplenomegaly, thalaseemia facies managed w/ lifelong transfusions; secondary hemochromatosis is a major complication *minor* causes a mild, asymptomatic anemia. No Tx is required. *will be easily misdiagnosed w/ Fe defiency anemia, but iron level in these Pts will actually be normal or elevated*!!

hereditary spherocytosis

most common inherited RBC membrane abnormality, causing hemolysis. Splenomegaly, pigmented gallstones, & aplastic crises *associated w/ parvo B19* Tx w/ transfusions until a *curative splenectomy can be performed after 5 yo*

platelet function defect labs

normal aPTT normal PT prolonged bleeding time NORMAL PLATELET COUNT yes to petechiae

thrombocytopenia labs

normal aPTT normal PT prolonged bleeding time low platelet count yes to petechiae

cholesterol & lipid screening

not recommended routinely. only recommended *in kids >2yo w/ FHx of early MIs, or FHx of hyperlipidemia/triglyceridemia If elevated, due a fasting lipid panel

vitamin k deficiency labs

prolonged aPTT AND PT NORMAL BLEEDING TIME Normal platelet count petechiae and hemarthroses

DIC labs

prolonged aPTT and PT Prolonged bleeding time (thrombocytopenia) low platelet count yes to petechiae, sometimes hemarthroses

Bloom syndrome

recessive condition - person is extremely short w/ red rash on their face. associated with leukemia, lympohmas, GI malignancies, and solid tumors

Bernard-soulier syndrome

recessive congential cause of qualitative platelet disorder - large platelets decreased platelet adhesion from absence of platelet membrane glycoproteins

fanconi anemia

recessive disorder resulting in bone marrow failure by 7 yo. Majority of people go on to develop leukemia (AML) *no thumbs* - other skeletal abnormalities.

Severe congenital agranulocytosis (kostmann syndrome)

recessive disorder w/ freuqnet bacterial infections. ANC usually <300

Chediak Higashi syndrome

recessive disorder with albinism, bright blonde/silver hair, thrombocytopenia *neutropenia*, large blue/gray granules in cytoplasm of neutrophils - HIGH RISK FOR SERIOUS INFECTION IF YOU SEE GIANT NEUTROPHIL GRANULES, think of this disorder *Staph aureus causes majority of infections*

Thrombocytopenia absent radius syndrome (TAR)

recessive, congenital cause of thrombocytopenia. the thumb is absent, unlike fanconi anemia.

Lead screening recommendations

recommended since intoxication is often asymptomatic All children 9 mo to 6 years old who: -live in old buildings -have siblings, friends w/ intoxication -live near smelters or have family members in a --lead-related hobby -living in old homes w/ renovation occurring -all children if they live in an ear where >12% of kids have elevated lead levels

Cephalohematoma

subperiosteal hemorraghe of the newborn cranium after traumatic delivery - can interfere w/ accurate head circumference measurement *Confined and limited by cranial sutures*, unlike caput succedaneum

Brainstem auditory evoked response (BAER)

universal newborn hearing test to detect hearing in order to prevent language delays electrodes placed, clicks given, EEG is analyzed for brain waves in response to "clicks". super good, but expensive & requires trained people

evoked otoacoustic emission (EOE)

universal newborn hearing test to detect hearing in order to prevent language delays measures sounds generated by functioning cochlear hair cells. less sensitive/specific, but cheapter

Haemophilus type B vaccine

used to be a v. serious cuase of infection, meningitis, sepsis, etc. now it's pretty rare *conjugate* (non-live) vaccine containing HIB polysaccharide linked to tetanus or diphtheria toxoid to increase immunogenicity 2, 4, & 6 months. And then maybe a booster at 12-15 months, depending on type used