UWorld Flashcards
1
Q
loss of motor milestones, hypotonia, HSM, protuberant abdomen, areflexia, cherry red macula
A
niemann pick disease- sphingomyelinase deficiency
2
Q
loss of motor milestones, hypotonia, cherry red macula, hyperreflexia, no HSM
A
tay sachs- beta hexosaminidase
3
Q
early infancy: developmental regression, hypotonia, areflexia; no cherry red macula or organomegaly
A
krabbe disease- galactocerebrosidase
4
Q
anemia, thrombocytopenia, HSM
no loss of milestones or cherry red macula
this is an IEM
A
gaucher disease- glucocerebrosidase deficiency
5
Q
coarse facial features, inguinal or umbilical hernias, corneal clouding, HSM at 6 months-2years
A
hurler syndrome- mucopolysaccharidosis (lysosomal storage disorder)
6
Q
how to dx hereditary spherocytosis
A
acidified glycerol lysis test
eosin-5-maleimide binding test
7
Q
erythroderma
A
bright red patches coalesce and gradually peel
8
Q
long arms and legs, sparse facial and body hair, gynecomastia, cryptorchidism, infertility
A
klinefelter’s (XXY)
9
Q
rare but life threatening hepatic encephalopathy that develop in children using aspirin during influenza or varicella infections
A
reye syndrome
10
Q
where do you see adenoma sebaceum
A
tuberous sclerosis
11
Q
risk factors for RDS
A
PREMATURITY MALE SEX PERINATAL ASPHYXIA MATERNAL DIABETES C SECTION WITHOUT LABOR
12
Q
what heart issue do you see most often in trisomy 18 (Edwards)
A
VSD
13
Q
what heart issue do you see with congenital rubella
A
PDA
14
Q
normal baby at birth –> apathy, weakness, hypotonia, large tongue, sluggish movement, abdominal bloating, umbilical hernia
A
congenital hypothyroidism
15
Q
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
A
chediak-higashi syndrome
16
Q
neutrophilia w/o PMNs in the infected tissue/pus
A
leukocyte adhesion defect
17
Q
chronic pruritic dermatitis, recurrent staph skin and respiratory tract infections, elevated serum IgE, eosinophilia, coarse facial features
A
hyper-IgE (Job’s) syndrome
18
Q
3 main causes of nephrotic syndrome
A
minimal change disease
FSGS- crescent formation
membranous glomerulonephritis- thickened basement membrane, subepithelial spikes
19
Q
_____ hypercellularity is suggestive of membranoproliferative GN (nephritic syndrome)
A
mesangial
20
Q
child with self mutilation and gout
A
lesch nyhan syndrome
deficiency in hypoxanthine-guanine phosphoribosyl transferase (HPRT)- involved in purine metabolism
21
Q
hydrophobia and aerophobia
A
pathognomonic for rabies
feeling of water or air triggers involuntary pharyngeal muscle spasms
22
Q
common cardiac issues in turners
A
bicuspid aortic valve
coarctation of aorta
aortic root dilation
23
Q
how to dx DMD
A
genetic testing
24
Q
how to tx high lead levels
A
mild: rpt levels in 1 month
moderate (45-70): DMSA
severe (>70 or encephalopathy): dimercaprol + EDTA
25
hematuria
| isosthenuria- impairment in concentrating ability -> nocturia, polyuria
sickle cell trait
26
fever, urticarial rash, polyarthralgia, LAD 1-2 weeks after abx
serum sickness-like reaction
27
how to tx GC and chlamydial conjunctivitis
GC- IM cefotaxime
| chlamydia- oral erythromycin
28
how to ppx GC conjunctivitis in newborns
topical erythromycin
29
blood stained eye discharge in a neonate is characteristic for ______
chlamydial conjunctivitis
30
apgar score < ____ requires further evaluation and resuscitation
7
31
APGAR- what is involved?
```
appearance/color
pulse
grimace/reaction
activity/muscle tone
respiration
```
32
quantitative pilocarpine iontophoresis is a test for what
cystic fibrosis
33
strawberry vs. cherry hemangioma
| which one do you find in kids?
strawberry
34
```
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
35
dubin johnson causes _______ hyperbili
| galactosemia causes ______ hyperbili
conjugated
| conjugated
36
CATCH22 of ______
```
DiGeorge
conotruncal cardiac defects
abnromal facies
thymic aplasia
cleft palate
hypoCa
```
37
when you suspect DiGeorge, which two things do you order?
serum Ca
| echo
38
pappenheimer bodies seen on smear suggest this dx
sideroblastic anemia
39
how to tx pinworm (enterobiasis)
albendazole or mebendazole
40
cirrhosis and periportal eosinophilic inclusion bodies in the liver
alpha 1 antitrypsin
41
microvesicular steatosis, elevated transaminases, coagulopathy, hyperammonemia
reye syndrome (ASA + flu or varicella in kids)
42
what is caroli syndrome
congenital disorder- intrahepatic dilation of bile ducts
43
by 12 months, a child's weight should ______ and height should ______
triple
| increase by 50%
44
gold standard for diagnosing malrotation
upper GI
| -you would see ligament of treitz on the right side of the abdomen
45
upper GI finding of volvulus
corkscrew pattern
46
which 3 electrolytes are low in refeeding syndrome
K
Mg
phosphorus
also decreased thiamine
47
scaphoid/concave abdomen, barrel chest in newborn with respiratory distress
congenital diaphragmatic hernia
48
how to manage congenital diaphragmatic hernia
intubate
| then gastric tube to decompress the stomach and bowel
49
which vitamins should a premie baby who is exclusively breast feeding take?
iron
| vitamin D
50
testicles that haven't descended by age _____ should be operated on
6 months
51
2 causes of viral myocarditis
coxsackie B
| adenovirus
52
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
53
angular cheilosis, stomatitis, glossitis, normocytic anemia, seborrheic dermatitis
B2 riboflavin deficiency
54
dermatitis, diarrhea, dementia, glossitis
B3 niacin deficiency
55
cheilosis, stomatitis, glossitis, irritability, confusion, depression
B6 pyridoxine deficiency
56
beriberi- peripheral neuropathy, heart failure
| wernicke korsakoff
B1 thiamine deficiency
57
classic triad: cataracts, deafness, cardiac defects
congenital rubella
58
classic triad: chorioretinitis, hydrocephalus, intracranial calcifications
congenital toxo
59
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
```
60
how to manage meconium ileus after you've excluded perf on xray
water soluble contrast enema
61
how to manage ITP in kids
skin only: observe
| bleeding: IVIG or steroids
62
how to manage ITP in adults
plts > 30,000 w/o bleeding: observe
| plts < 30,000 OR bleeding: IVIG or steroids
63
HSM, hydrocephalus, chorioretinitis, intracranial calcifications
congenital toxo
64
sensorineural hearing loss, cataracts, heart defects, HSM, microcephaly, thrombocytopenia purpura (blueberry muffin)
congenital rubella
65
IUGR, HSM, petechiae or purpura, microcephaly, chorioretinitis, sensorineural hearing loss, periventricular calcifications
congenital CMV
66
HSM, cutaneous lesions, jaundice, anemia, rhinorrhea in new born, metaphyseal dystrophy, periostitis
congenital syphilis
67
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
68
aldose B deficiency is what
hereditary fructose intolerance
69
______ are the most common cause of urinary tract obstruction in newborn boys
posterior urethral valves
| -cause oligohydramnios --> lung hypoplasia and Potter sequence
70
grey colored pseudomembrane formation in the mouth of a unvaccinated child
diphtheria
71
how to manage gastroschisis and omphalocele
wrap the bowel up
OG tube for decompression
get IV access
then surgery for definitive tx
72
how to dx wilms tumor
abd ultrasound then CT
73
______ (wilms tumor/neuroblastoma) crosses the midline
neuroblastoma crosses the midline
74
which abx for sinusitis
augmentin
75
how to tx long QT
propranol and pacemaker
76
in infants with meningococcemia, watch out for this cause of mortality
waterhouse friderichsen sydrome
| -sudden vasomotor collapse and skin rash due to adrenal hemorrhage
77
______ deficiency presents with cataracts only
galactokinase
78
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
79
low C1q levels are associated with ______ angioedema
acquired
| hereditary angioedema is due to C1 inhibitor deficiency
80
low IgM, high IgA and IgE
wiskott aldrich syndrome
81
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
82
inheritance of BMD and DMD
X linked recessive
83
how to give shots to premies
via chronological age
| only exception: weight should be > 2 kg for first hep B shot
84
MCC sepsis in SS disease
strep pneumo
| -vaccinate and give pcn ppx before age 5 years
85
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)
86
brick dust/red stains in neonatal diapers is ______
uric acid crystals- high at birth and commonly seen while mother's milk is coming in
87
normal neonates lose _____ of birth weight in the first 5 days
up to 7%
88
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
89
_____ : 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
90
umbilical stump infection, poor suckling and fatigue, rigidity, spasms, opisthotonus
neonatal tetanus
91
bedwetting is normal before age _____
5
92
patients with ______ are predisposed to anaphylactic transfusion reactions
IgA deficiency
93
precocious puberty, cafe au lait spots (coast of maine), multiple bone defects
mccune albright
| 3 Ps: precocious puberty, pigmentation, polyostotic fibrous dysplasia
94
how to tx TCA overdose
Na bicarb to correct acidosis and narrow the QRS complex
| benzos for seizures
95
PAS positive staining happens in this childhood leukemia
ALL
96
how to tx eczema herpeticum
acyclovir
97
small palpebral fissures
smooth philtrum
thin upper lip
fetal alcohol syndrome
98
```
flat facial profile
slanted palpebral fissures
small low set ears
single transverse palmar crease
clinodactyly
large space between first two toes
```
Down syndrome
99
```
long narrow face
prominent forehead and chin
large ears
macrocephaly
marcoorchidism
```
fragile X
100
hypoplastic fingers/nails and cleft lip/palate are commonly found in fetal _____ syndrome
hydantoin
- phenytoin during pregnancy
- ppx with vitamin K in 3rd trimester
101
with HOCM, what increases murmur and what decreases it?
increases: valsalva, standing
decreases: hand grip, squatting and leg raise
102
breathholding spell... what do you need to check?
CBC and serum ferritin b/c it may be assoc with iron deficiency anemia
103
little girl who voids normally but is always wet with urine
low implantation of ureter
104
teen boy who drinks for the first time and has flank pain
ureteropelvic junction obstruction
105
if rapid strep is positive, then _____
| if rapid strep is negative, then ______
treat without culture
| get cx to r/o strep infection
106
wiskott aldrich pts (thrombocytopenia, recurrent infections, eczema) associated with this malignancy
NHL
107
if worried about child abuse with fx and bruises, what to do?
funduscopic exam
108
basophilic stippling is seen in ____ and _______
thalassemia and lead poisoning
109
FEP in lead poisoning
high
110
abx against pseudomonas PNA in CF patient
ceftazidime and tobramycin (2 abx active against pseudomonas)
111
burning pain, erythema, swelling minutes after being exposed to the sun
no blistering or scarring; thickened skin with erythema and swelling
erythropoietic protoporpyria
112
rash spares the wrist
staph toxic shock
113
chronic mucocutneous candidiasis, hypoparathyroidism, addison disease
polyglandular deficiency type I
114
parathyroid adenomas with hypercalcemia, pancreatic islet cell tumors, pituitary adenomas
MEN I
115
medullary carcinoma of thyroid, pheo, parathyroid adenomas
MEN II
116
adrenal insufficiency, thyroid disease, DM
polyglandular deficiency syndrome type II
117
Bruton's agammaglobulinemia: what organisms might you be susceptible to?
h flu, strep pneumo, mycoplasma
118
2 causes of secretory diarrhea in infants
rotavirus, ETEC
119
most common non ocular tumor in kids with retinoblastoma
osteosarcoma
