Pediatrics

Question 1

Sx of congenital toxoplasmosis (3)

Answer 1

microcephaly
IC calicifications
chorioretinitis

Question 2

Sx of congenital rubella (4)

Answer 2

cataracts
sensorineural hearing loss
PDA/heart defect
meningoencephalitis

Question 3

Sx of congenital CMV (2)

Answer 3

jaundice/hepatosplenomegaly

Blueberry muffin baby

Question 4

Assc with fetal EtOH syndrome

Answer 4

hypospadias

renal/cardiac defect

Question 5

Phenytoin on fetus

Answer 5

dysmorphic facies

hypoplasia of nails/distal phalanges

Question 6

Tx for group B strep

Answer 6

gentamicin + ampicillin

Question 7

Dx of hip dysplasia

Answer 7

ultrasounds

Question 8

Physiologic jaundice of newborn

Answer 8

starts at 24hrs from birth

resolves after 2 weeks

Question 9

Complications from premature infants (5)

Answer 9

respiratory distress
bronchopulmonary dysplasia
necrotizing enterocolitis
retinopathy (from too much O2)
intraventricular hemorrhage

Question 10

When should child sit unsupported?

Answer 10

6 months

Question 11

When should child crawl?

Answer 11

9 months

Question 12

When should child start walking?

Answer 12

12 months

Question 13

When should child roll prone to supine?

Answer 13

6 months

Question 14

When does Babinski reflex dissappear?

Answer 14

4 months

Question 15

When do the fontanelles close?

Answer 15

post- 2 months

ant- 12 months

Question 16

Contraindications for breastfeeding

Answer 16

breast cancer
herpes on breast
street drugs
active TB/HIV
antimetabolites/chloramphenicol/methimazole/tetracycline
CMV

Question 17

Vaccines with egg allergy

Answer 17

influenza

yellow fever

Question 18

Sx of Edwards syndrome

Answer 18

trisomy 18
rocker bottom feet
small mouth

Question 19

Sx of Patuas syndrome

Answer 19

holoprosencephaly
midline facial defects
polycystic kidneys

Question 20

Sx of Turners syndrome

Answer 20

hearing loss
ovarian dysgenesis
coractation/bicuspid aortic valve

Question 21

Sx of Fragile X syndrome

Answer 21

CGG repeat
macroorchidism
protruding ears
elongated facies
autistic behavior

Question 22

Sx of PKU

Answer 22

musty odor
hypopigmentation
severe MR if untreated

Question 23

Tx for homocystinemia

Answer 23

B6 and B12

Question 24

Sx of Hartnup Disease and tx

Answer 24

cutaneous photosensitivity
episodic psych changes
tx=high protein and B3

Question 25

Sx of Tay-sachs disease

Answer 25

hyperacusis (increased startle)

cherry red macula

Question 26

Sx of Niemann Pick

Answer 26

hepatosplenomegaly/jaundice
cherry red macula
foam cells in marrow

Question 27

Sx of Gaucher disease

Answer 27

pancytopenia

avascular necrosis/bone fractures

Question 28

Sx of Fabry disease

Answer 28

angiokeratomas/telangiectasias
limb pain
corneal deposits
kidney failure/cardiac involvement
hepatomegaly

Question 29

Sx of Farber disease

Answer 29

nodules on joints and vocal cords
MR
cherry red macula

Question 30

Sx of Hurler syndrome

Answer 30

corneal clouding
MR
enlarged tongue
hearing loss

Question 31

Sx of Hunter syndrome

Answer 31

coarse facies
clear corneas
MR

Question 32

Inheritance pattern of lysosomal storage diseases

Answer 32

all are AR except two

Hunter and Fabrys are X linked recessive

Question 33

Sx of von Gierkes

Answer 33

fasting hypoglycemia
hepatomegaly
renal complications
elevated lactate, uric acid and TG’s

Question 34

Sx of McArdles

Answer 34

muscle weakness
cramping with exercise
elevated CK at rest

Question 35

Sx of Pompes

Answer 35

cardiomegaly
macroglossia
hepatomegaly

Question 36

Triad of galactosemia

Answer 36

liver failure
renal tubular dysfxn
cataracts

Question 37

Familial hyperlipidemias

Answer 37

I-chylomicrons
II-cholesterol
III-cholesterol and TG
IV-VLDL