12/30/12 Flashcards
Dx this: Normal at birth, then slowly develops muscle weakness and wasting, esp. distal mm. of hand, post. forearm, and ant. leg. Face: temporal wasting, thin cheeks, upper lip in shape of inverted V. Delayed muscle relaxation, e.g. after handshake.
myotonic muscular dystrophy
What procedure is both diagnostic and therapeutic in foreign body aspiration?
rigid bronchoscopy
What is the most common cause of congenital hypothyroidism in the U.S.?
thyroid dysgenesis
What is the preferred imaging modality to differentiate preseptal and orbital cellulitis when this distinction can’t be made clinically?
CT
3-4 month-old baby with hypoglycemia and elevated uric and lactic acid. Doll-like facies, thin extremities, and enlarged liver and kidneys. Dx?
Type I glycogen storage disease (von Gierke’s)
What is the enzyme deficiency inb von Gierke’s disease?
glucose-6-phosphatase
Cystic parasellar calcified lesion on MRI =
craniopharyngioma
What does the renal artery angiogram show in fibromuscular dysplasia?
string-of-beads
Which component of the DTaP is usu. responsible for any associated adverse reactions?
pertussis
What class of anemia is Diamond-Blackfan?
macrocytic (not megaloblastic)
What is the main Tx for Diamond-Blackfan anemia?
corticosteroids
What cardiac anamoly is commonly seen in Edward’s syndrome?
VSD
What are the most significant factors for interventricular hemorrhage?
prematurity and LBW
What is the malformation in Ebstein’s anomaly?
downward displacement of the tricuspid valve
Does Ebstein’s anomaly increase or decrease pulmonary flow?
decrease
