04-01-2007, 10:31 PM
A 2-month-old boy is evaluated for failure to thrive. As the pediatrician is examining the patient, she witnesses a
seizure. Physical examination is remarkable for hepatomegaly, a finding later confirmed by CT scan, which also
reveals renomegaly. Serum chemistries demonstrate severe hypoglycemia, hyperlipidemia, lactic acidosis, and
ketosis. Which of the following diseases best accounts for this presentation?
A. Gaucher's disease
B. McArdle's disease
C. Niemann-Pick disease
D. Pompe's disease
E. von Gierke's disease
seizure. Physical examination is remarkable for hepatomegaly, a finding later confirmed by CT scan, which also
reveals renomegaly. Serum chemistries demonstrate severe hypoglycemia, hyperlipidemia, lactic acidosis, and
ketosis. Which of the following diseases best accounts for this presentation?
A. Gaucher's disease
B. McArdle's disease
C. Niemann-Pick disease
D. Pompe's disease
E. von Gierke's disease