Wolman's disease, adrenal

(Moshe Wolman, born 1913, Israeli neuropathologist). Wolman's disease is a rare lipid storage disease affecting the liver, spleen and adrenal glands. It is associated with adrenal calcification and resultant, although mild, adrenocortical insufficiency. The disease is also characterized by marked hepatosplenomegaly. It is caused by a autosomal recessive deficiency of liposomal acid lipase which results in an abnormal accumulation of triglycerides and cholesterol esters in various organs. Clinically, the disease is manifested by failure to thrive, vomiting, diarrhoea, anaemia and progressive abdominal enlargement. Most patients die by 6 months of age, although milder forms compatible with longer life have been reported. The adrenal glands are markedly enlarged, although they retain their normal shape. There are also diffuse, punctate calcifications which infiltrate the entire gland. At one time Wolman's disease was misdiagnosed as either calcification in adrenal haemorrhage or Niemann Pick disease, but the recognized radiographic appearance is now virtually pathognomonic.

The imaging evaluation of choice for Wolman's disease is CT. CT shows markedly enlarged adrenal glands which retain their normal shape, and often have punctate calcifications diffusely infiltrating the entire gland. While those findings can be seen on radiography and calcifications sometimes recognized on ultrasound, CT remains the most sensitive specific modality, and is the recommended approach.

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