UWorld Flashcards
loss of motor milestones, hypotonia, HSM, protuberant abdomen, areflexia, cherry red macula
niemann pick disease- sphingomyelinase deficiency
loss of motor milestones, hypotonia, cherry red macula, hyperreflexia, no HSM
tay sachs- beta hexosaminidase
early infancy: developmental regression, hypotonia, areflexia; no cherry red macula or organomegaly
krabbe disease- galactocerebrosidase
anemia, thrombocytopenia, HSM
no loss of milestones or cherry red macula
this is an IEM
gaucher disease- glucocerebrosidase deficiency
coarse facial features, inguinal or umbilical hernias, corneal clouding, HSM at 6 months-2years
hurler syndrome- mucopolysaccharidosis (lysosomal storage disorder)
how to dx hereditary spherocytosis
acidified glycerol lysis test
eosin-5-maleimide binding test
erythroderma
bright red patches coalesce and gradually peel
long arms and legs, sparse facial and body hair, gynecomastia, cryptorchidism, infertility
klinefelter’s (XXY)
rare but life threatening hepatic encephalopathy that develop in children using aspirin during influenza or varicella infections
reye syndrome
where do you see adenoma sebaceum
tuberous sclerosis
risk factors for RDS
PREMATURITY MALE SEX PERINATAL ASPHYXIA MATERNAL DIABETES C SECTION WITHOUT LABOR
what heart issue do you see most often in trisomy 18 (Edwards)
VSD
what heart issue do you see with congenital rubella
PDA
normal baby at birth –> apathy, weakness, hypotonia, large tongue, sluggish movement, abdominal bloating, umbilical hernia
congenital hypothyroidism
mild coagulopathy, peripheral and cranial neuropathy, HSM, pancytopenia, partial oculocutaneous albinism, frequent bacterial infection
- neutropenia, giant lysosomes in neutrophils
- tx with daily bactrim and vitamin C
chediak-higashi syndrome
neutrophilia w/o PMNs in the infected tissue/pus
leukocyte adhesion defect
chronic pruritic dermatitis, recurrent staph skin and respiratory tract infections, elevated serum IgE, eosinophilia, coarse facial features
hyper-IgE (Job’s) syndrome
3 main causes of nephrotic syndrome
minimal change disease
FSGS- crescent formation
membranous glomerulonephritis- thickened basement membrane, subepithelial spikes
_____ hypercellularity is suggestive of membranoproliferative GN (nephritic syndrome)
mesangial
child with self mutilation and gout
lesch nyhan syndrome
deficiency in hypoxanthine-guanine phosphoribosyl transferase (HPRT)- involved in purine metabolism
hydrophobia and aerophobia
pathognomonic for rabies
feeling of water or air triggers involuntary pharyngeal muscle spasms
common cardiac issues in turners
bicuspid aortic valve
coarctation of aorta
aortic root dilation
how to dx DMD
genetic testing
how to tx high lead levels
mild: rpt levels in 1 month
moderate (45-70): DMSA
severe (>70 or encephalopathy): dimercaprol + EDTA
hematuria
isosthenuria- impairment in concentrating ability -> nocturia, polyuria
sickle cell trait
fever, urticarial rash, polyarthralgia, LAD 1-2 weeks after abx
serum sickness-like reaction
how to tx GC and chlamydial conjunctivitis
GC- IM cefotaxime
chlamydia- oral erythromycin
how to ppx GC conjunctivitis in newborns
topical erythromycin
blood stained eye discharge in a neonate is characteristic for ______
chlamydial conjunctivitis
apgar score < ____ requires further evaluation and resuscitation
7
APGAR- what is involved?
appearance/color pulse grimace/reaction activity/muscle tone respiration
quantitative pilocarpine iontophoresis is a test for what
cystic fibrosis
strawberry vs. cherry hemangioma
which one do you find in kids?
strawberry
shapes you can copy and at what age age 3 age 4 age 5 age 6
3- cross, circle
4- square, rectangle
5- triangle
6- diamond
dubin johnson causes _______ hyperbili
galactosemia causes ______ hyperbili
conjugated
conjugated
CATCH22 of ______
DiGeorge conotruncal cardiac defects abnromal facies thymic aplasia cleft palate hypoCa
when you suspect DiGeorge, which two things do you order?
serum Ca
echo
pappenheimer bodies seen on smear suggest this dx
sideroblastic anemia
how to tx pinworm (enterobiasis)
albendazole or mebendazole
cirrhosis and periportal eosinophilic inclusion bodies in the liver
alpha 1 antitrypsin
microvesicular steatosis, elevated transaminases, coagulopathy, hyperammonemia
reye syndrome (ASA + flu or varicella in kids)
what is caroli syndrome
congenital disorder- intrahepatic dilation of bile ducts
by 12 months, a child’s weight should ______ and height should ______
triple
increase by 50%
gold standard for diagnosing malrotation
upper GI
-you would see ligament of treitz on the right side of the abdomen
upper GI finding of volvulus
corkscrew pattern
which 3 electrolytes are low in refeeding syndrome
K
Mg
phosphorus
also decreased thiamine
scaphoid/concave abdomen, barrel chest in newborn with respiratory distress
congenital diaphragmatic hernia
how to manage congenital diaphragmatic hernia
intubate
then gastric tube to decompress the stomach and bowel
which vitamins should a premie baby who is exclusively breast feeding take?
iron
vitamin D
testicles that haven’t descended by age _____ should be operated on
6 months
2 causes of viral myocarditis
coxsackie B
adenovirus
causes of intussusception
- viral illness –> hypertrophy of peyers patches
- inspissated stool
- small bowel diverticulum
- small bowel wall hematoma
- kids < 2 years
- CF kids
- Meckel’s diverticulum** pretty common
- HSP manifestation
angular cheilosis, stomatitis, glossitis, normocytic anemia, seborrheic dermatitis
B2 riboflavin deficiency
dermatitis, diarrhea, dementia, glossitis
B3 niacin deficiency
cheilosis, stomatitis, glossitis, irritability, confusion, depression
B6 pyridoxine deficiency
beriberi- peripheral neuropathy, heart failure
wernicke korsakoff
B1 thiamine deficiency
classic triad: cataracts, deafness, cardiac defects
congenital rubella
classic triad: chorioretinitis, hydrocephalus, intracranial calcifications
congenital toxo
reasons to operate on an umbilical hernia
persists to age 3-4 years exceeds 2 cm in diameter causes symptoms becomes strangulated enlarges progressively after age 1-2 years
how to manage meconium ileus after you’ve excluded perf on xray
water soluble contrast enema
how to manage ITP in kids
skin only: observe
bleeding: IVIG or steroids
how to manage ITP in adults
plts > 30,000 w/o bleeding: observe
plts < 30,000 OR bleeding: IVIG or steroids
HSM, hydrocephalus, chorioretinitis, intracranial calcifications
congenital toxo
sensorineural hearing loss, cataracts, heart defects, HSM, microcephaly, thrombocytopenia purpura (blueberry muffin)
congenital rubella
IUGR, HSM, petechiae or purpura, microcephaly, chorioretinitis, sensorineural hearing loss, periventricular calcifications
congenital CMV
HSM, cutaneous lesions, jaundice, anemia, rhinorrhea in new born, metaphyseal dystrophy, periostitis
congenital syphilis
fair complexion, intellectual disability, seizures, musty/mousy body odor
what is it and how to screen
PKU
- newborn screen- tandem mass spec
- quantitative AA analysis shows increased phenylalanine levels
aldose B deficiency is what
hereditary fructose intolerance
______ are the most common cause of urinary tract obstruction in newborn boys
posterior urethral valves
-cause oligohydramnios –> lung hypoplasia and Potter sequence
grey colored pseudomembrane formation in the mouth of a unvaccinated child
diphtheria
how to manage gastroschisis and omphalocele
wrap the bowel up
OG tube for decompression
get IV access
then surgery for definitive tx
how to dx wilms tumor
abd ultrasound then CT
______ (wilms tumor/neuroblastoma) crosses the midline
neuroblastoma crosses the midline
which abx for sinusitis
augmentin
how to tx long QT
propranol and pacemaker
in infants with meningococcemia, watch out for this cause of mortality
waterhouse friderichsen sydrome
-sudden vasomotor collapse and skin rash due to adrenal hemorrhage
______ deficiency presents with cataracts only
galactokinase
newborn with FTT, bilateral cataracts, jaundice and hypoglycemia
what does it put you at risk for
galactosemia- galactose 1 phosphate uridyl transferase deficiency
E. coli neonatal sepsis
low C1q levels are associated with ______ angioedema
acquired
hereditary angioedema is due to C1 inhibitor deficiency
low IgM, high IgA and IgE
wiskott aldrich syndrome
difficulty making facial expressions, dysphagia, ptosis, temporal wasting, thin cheeks, emaciated extremities, atrophy of thenar and hypothenar eminences, inverted V shaped upper lip, testicular atrophy, delayed relaxation on contraction of thenar and hypothenar muscles
what is it and how do you get it?
myotonic muscular dystrophy
-autosomal dominant
inheritance of BMD and DMD
X linked recessive
how to give shots to premies
via chronological age
only exception: weight should be > 2 kg for first hep B shot
MCC sepsis in SS disease
strep pneumo
-vaccinate and give pcn ppx before age 5 years
macrosomia, macroglossia, hemihyerplasia, umbilical hernia/omphalocele, hypoglycemia
what is it, what are you at risk for, what chromosome ?
beckwith wiedemann syndrome
- risk for wilms tumor or hepatoblastoma
- chromosome 11p15 (imprinted gene dysregulation)
brick dust/red stains in neonatal diapers is ______
uric acid crystals- high at birth and commonly seen while mother’s milk is coming in
normal neonates lose _____ of birth weight in the first 5 days
up to 7%
follicular conjunctivitis and pannus (neovascularization) formation in the cornea is consistent with _____
how to dx and tx?
trachoma infection
dx with giemsa stain examination of conjunctival scrapings
tx with topical tetracycline or oral azithromycin
_____ : gray vesicles on the tonsillar pillars and posterior oropharynx that progress to fibrin-coated ulcerations
_____: vesicles in the anterior oropharynx and lips
coxsackie causing herpangina –> supportive tx
HSV causing herpetic gingivostomatitis –> acyclovir
umbilical stump infection, poor suckling and fatigue, rigidity, spasms, opisthotonus
neonatal tetanus
bedwetting is normal before age _____
5
patients with ______ are predisposed to anaphylactic transfusion reactions
IgA deficiency
precocious puberty, cafe au lait spots (coast of maine), multiple bone defects
mccune albright
3 Ps: precocious puberty, pigmentation, polyostotic fibrous dysplasia
how to tx TCA overdose
Na bicarb to correct acidosis and narrow the QRS complex
benzos for seizures
PAS positive staining happens in this childhood leukemia
ALL
how to tx eczema herpeticum
acyclovir
small palpebral fissures
smooth philtrum
thin upper lip
fetal alcohol syndrome
flat facial profile slanted palpebral fissures small low set ears single transverse palmar crease clinodactyly large space between first two toes
Down syndrome
long narrow face prominent forehead and chin large ears macrocephaly marcoorchidism
fragile X
hypoplastic fingers/nails and cleft lip/palate are commonly found in fetal _____ syndrome
hydantoin
- phenytoin during pregnancy
- ppx with vitamin K in 3rd trimester
with HOCM, what increases murmur and what decreases it?
increases: valsalva, standing
decreases: hand grip, squatting and leg raise
breathholding spell… what do you need to check?
CBC and serum ferritin b/c it may be assoc with iron deficiency anemia
little girl who voids normally but is always wet with urine
low implantation of ureter
teen boy who drinks for the first time and has flank pain
ureteropelvic junction obstruction
if rapid strep is positive, then _____
if rapid strep is negative, then ______
treat without culture
get cx to r/o strep infection
wiskott aldrich pts (thrombocytopenia, recurrent infections, eczema) associated with this malignancy
NHL
if worried about child abuse with fx and bruises, what to do?
funduscopic exam
basophilic stippling is seen in ____ and _______
thalassemia and lead poisoning
FEP in lead poisoning
high
abx against pseudomonas PNA in CF patient
ceftazidime and tobramycin (2 abx active against pseudomonas)
burning pain, erythema, swelling minutes after being exposed to the sun
no blistering or scarring; thickened skin with erythema and swelling
erythropoietic protoporpyria
rash spares the wrist
staph toxic shock
chronic mucocutneous candidiasis, hypoparathyroidism, addison disease
polyglandular deficiency type I
parathyroid adenomas with hypercalcemia, pancreatic islet cell tumors, pituitary adenomas
MEN I
medullary carcinoma of thyroid, pheo, parathyroid adenomas
MEN II
adrenal insufficiency, thyroid disease, DM
polyglandular deficiency syndrome type II
Bruton’s agammaglobulinemia: what organisms might you be susceptible to?
h flu, strep pneumo, mycoplasma
2 causes of secretory diarrhea in infants
rotavirus, ETEC
most common non ocular tumor in kids with retinoblastoma
osteosarcoma
