Wolman disease

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

Clinical presentation

Wolman disease typically present during the first two months of life with failure to thrive, diarrhea, and vomiting. Abdominal distention is present due to hepatomegaly,  splenomegaly  and generalised lymphadenopathy ³.

Pathology

The biochemical abnormality is acid lipase/acid esterease deficiency, which is responsible for splitting triglycerides and cholesterol esters ⁴.  As a result of this deficiency there is 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 of this tissue with subsequent calcification results in the characteristic radiological features. 

Radiographic features

Plain filmConventional radiography

• bilateral calcification of the adrenal glands, which are enlarged ^{3, 5} 

CT

• may show hepatosplenomegaly (with fatty infiltration of liver)
• bilaterally enlarged calcific (punctate calcification) adrenals which retain normal triangular shapes
• may show enlarge 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 peranteral 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 ²

EtymologyHistory and etymology

It takes it's name from one of the neuropathologists who first described the entity in 1956:

• Moshe Wolman (1914)
• Abramov
• Schorr