Purpose or Case Report: Wolman disease is a rare autosomal recessive inherited disease characterized by storage of cholesterol esters and triglycerides in lysosomes due to a deficiency of lysosomal acid lipase. Clinical signs such as persistent vomiting, diarrhea, hepatosplenomegaly, growth retardation and liver dysfunction occur in the first weeks of life. Most cases die in the first year of life. Here, we aim to present radiological findings of Wolman disease.
An asymptomatic girl two months of age was admitted to the pediatric genetic disease service with the history of Wolman disease in two brothers who had died in the neonatal period. Abdominal X-ray imaging displayed calcification of the bilateral adrenal gland regions. Hepatosplenomegaly and bilateral adrenal gland posterior acoustic shadowing due to calcifications were revealed by abdominal sonography. Magnetic resonance imaging showed enlarged hypointense adrenal glands in all sequences and hepatosplenomegaly. The lysosomal acid lipase levels were low compatible with Wolman disease.
Multimodality radiologic imaging methods should be performed to display hepatosplenomegaly, hepatosteatosis, bilateral adrenal gland enlargement and calcification in Wolman disease.
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