[Wolman disease: a case report]

ABSTRACT

The Wolman disease is a rare autosomal recessive disorder associated with reduced activity of lysosomal acid lipase [LAL] witch leads to the tissue accumulation of cholestryl esters and triglycerides. The authors report a case of 3 month-old infant who was admitted for abdominal distension with hepato-splenomegaly, diarrhea, vomiting, anemia and inanition. The diagnosis was made on the radiological evidence of bilateral adrenal calcifications. The patient died during the first 3 months of life. It is recommended that plain abdominal X-Ray must be obtained to check for the typical pattern of adrenal calcification in any young infant with evidence of a storage disease without dysmorphic features