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A 2-month-old child is evaluated for failure to thrive...

asked Feb 12, 2014 in Pediatrics by Rajesh Bahara

A 2-month-old child is evaluated for failure to thrive. During the examination, the child has a seizure. Stat serum chemistries demonstrate severe hypoglycemia, hyperlipidemia, lactic acidosis, and ketosis. Physical examination is remarkable for hepatomegaly, a finding confirmed by CT scan, which also reveals renomegaly. Which of the following diseases best accounts for this presentation?

(A) Gaucher disease

(B) McArdle disease

(C) Niemann-Pick disease

(D) Pompe disease

(E) Von Gierke disease

1 Answer

+1 vote
Best answer

(E) Von Gierke disease

answered Feb 12, 2014 by Rajesh Bahara