6/16/13 a

Question 1

A few weeks after birth, a baby presents w/ projectile vomiting, eczematous rash, and photosensitivity. Dx?

Answer 1

phenylketonuria

Question 2

Serum levels of what aa are high in PKU?

Answer 2

phenylalanine

Question 3

What is the defect in Maple Syrup Urine Disease?

Answer 3

defect in metabolism of branched-chain aa’s

Question 4

Black-colored urine in alkaptonuria results from excretion of _______.

Answer 4

homogentisic acid

Question 5

Which atypical antipsychotic has the least extrapyramidal side fx?

Answer 5

quetiapine

Question 6

What can be used to tx children w/ frequent relapses of nephrotic syndrome despite prednisone?

Answer 6

cyclophosphamide

Question 7

What is the main symptom of brucellosis?

Answer 7

recurrent fever

Question 8

What kind of testicular tumor produces lg amts of androgens and presents w/ precocious puberty in children and feminization in adults?

Answer 8

Leydig cell tumors

Question 9

Hearing loss w/ tinnitus and vertigo.

Answer 9

Ménière’s disease

Question 10

High frequency hearing loss in older person. May have a hard time in loud environments.

Answer 10

Presbycusis

Question 11

Low frequency hearing loss in a middle-aged person.

Answer 11

Otosclerosis

Question 12

Hip, knee, or groin pain + antalgic gait in a 4-10 y.o. boy.

Answer 12

avascular necrosis of the femoral head

Legg-Calve-Perthes disease

Question 13

Hip, knee, or groin pain +antalgic gait in an obese adolescent male.

Answer 13

slipped capital femoral epiphysis

Question 14

What is the most common cause of lower GI hemorrhage in elderly pts?

Answer 14

diverticulosis