A 2-month-old infant suffering from increased vomiting and diarrhea is seen in the hospital and observed to have significant abdominal distention due to hepatosplenomegaly. Unfortunately, the infant does not survive. Autopsy reveals calcification of the adrenals and massive accumulation of cholesteryl esters and triglycerides in most tissues. Analysis of enzyme activity in fibroblasts and lymphocytes demonstrates a significant acid lipase (cholesteryl ester hydrolase) deficiency. These clinical findings are indicative of which of the following disorders?

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Quizplus · Accepted Answer

The clinical findings and enzyme deficiency described are characteristic of Wolman disease, a rare lysosomal storage disorder caused by a deficiency of lysosomal acid lipase, leading to the accumulation of cholesteryl esters and triglycerides in various tissues.  Wolman disease results from a deficiency in the lysosomal acid lipase enzyme (also called cholesteryl ester hydrolase) and is very nearly always a fatal disease of infancy. Symptoms of the disorder arise from massive accumulation of cholesteryl esters and triglycerides in most tissues. Clinical manifestations include hepatosplenomegaly leading to abdominal distention, gastrointestinal abnormalities, steatorrhea, and adrenal calcification.

A 2-Month-Old Infant Suffering from Increased Vomiting and Diarrhea Is