Wolman disease

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Wolman disease is a rare autosomal recessive inborn error of metabolism resulting in the deposition of fats in multiple organs.

Clinical presentation

Patients with Wolman disease typically present during the first two months of life with failure to thrive, diarrhea and vomiting. Abdominal distention may be present because of hepatomegaly, splenomegaly and generalized lymphadenopathy .

Pathology

The underlying biochemical abnormality is a deficiency of acid lipase/acid esterase. These enzymes are responsible for splitting triglycerides and cholesterol esters . The deficiency results in accumulation of lipid esters in multiple tissues including the liver, spleen, lymph nodes, and small bowel.

Marked accumulation of cholesterol and fatty acid crystals also occurs within the cells of the adrenal cortex, resulting in enlargement of the adrenal glands. Saponification (accumulation of glyceryl ether lipids) of this tissue with subsequent calcification results in the characteristic radiological features.

Radiographic features

Plain radiograph

bilateral calcification of the adrenal glands, which are enlarged

CT

may show hepatosplenomegaly (with fatty liver)
bilaterally enlarged calcified (punctate calcification) adrenal glands that retain their normal triangular shapes
may show enlarged fatty-infiltrated lymph nodes

MRI

hepatosplenomegaly
bilateral adrenal enlargement
bilateral adrenal calcifications
- T1: low signal foci
- T2: low signal foci

Treatment and prognosis

Treatment approaches have included total parenteral nutrition (TPN), corticosteroids, plasma infusion, and various dietary supplements, all without success, with death in infancy ensuing (usually within 6 months). Bone marrow transplantation has been reported with some success.