Pediatrics

Question 1

Lead poisoning chelation therapy

Answer 1

Not administered for <45
Dimdercaptosuccinic acid (DMSA, Succimer) for 45-69
Dimercaprol (british Anti-lewisite) + calcium disodium edentate (EDTA) for >70 or acute encephalopathy

Question 2

What is the difference between Niemann-Pick and Tay-Sachs disease (clinically)

Answer 2

Niemann-Pick: Hepatosplenomegaly, areflexia

Tay-Sachs: Hyperreflexia

Question 3

Deficiency associated with Krabbe disease

Answer 3

Galactocerbrosidase

developmental regression, hypotonia, areflexia

Question 4

Deficiency associated with Gaucher disease

Answer 4

glucocerbrosidase

anemia, thrombocytopenia, HSM, no loss of milestones

Question 5

Deficiency associated with Hurler syndrome

Answer 5

Lysosomal hydrolase deficiency

coarse facial features, inguinal or umbilical hernias, corneal clouding, HSM

Question 6

What are the components of CHARGE syndrome?

Answer 6

Coloboma
Heart defects
Atresia choanae
Retardation of growth/development
Genito-urinary anomolies
Ear abnormalities/deafness

Question 7

What is the enzyme deficiency in Von Gierke disease?

Answer 7

glucose-6-phosphatase deficiency

Question 8

What is the physical exam presentation of von fierce disease?

Answer 8

doll like face with rounded cheeks
thin extremities
short stature
protuberant abdomen due to hepatomegaly

Question 9

What is impaired with glucose-6-phosphatase deficiency?

Answer 9

glycogen to glucose conversion leading to hypoglycemia, lactic acidosis, hyperuricemia, and hyperlipidemia

Question 10

what is the tetrad of henonch-shonlein purpora (HSP)

Answer 10

palpable purpura on lower extremities
arthralgias
abdominal pain
renal disease

Question 11

what type of vasculitis is HSP?

Answer 11

IgA-mediated

Question 12

what is the defect in marfan syndrome?

Answer 12

fibrillin 1

Question 13

what growth parameters should be met by 12 months?

Answer 13

weight triple

height increase by 50%