Wolman disease

Case contributed by Dr Ammar Haouimi

Presentation

History of diarrhea and vomiting. The clinical examination showed signs of hypotrophy with distended abdomen. The lab investigations revealed a microcytic anemia with Hb level at 7.7 g/dl.

Patient Data

Age: 4 months
Gender: Female
CT

The liver is enlarged diffusely hypodense as compared to spleen due to the fatty infiltration. The spleen is also enlarged with homogeneous density. The adrenal glands are enlarged and calcified bilaterally with preserved triangular shape (accumulation of fatty acids and cholesterol leads to enlargement and eventual calcification of the adrenal glands).

Enlarged and hypodense mesenteric lymph nodes due to fatty accumulation. 

Case Discussion

Wolman disease is an autosomal recessive storage disorder caused by very low (or absent) lysosomal acid lipase (LAL) activity. Deficiency of this enzyme leads to massive intracellular accumulation of cholesteryl esters and triglycerides. It represents the severe form of LAL deficiency in which patients present in early infancy with steatorrhea, chronic emesis, failure to thrive, and hepatosplenomegaly. Without treatment, affected individuals usually die during the first year of life.

Additional contributors: R Bouguelaa, C Boukaaba, Z Boudiaf, A Ramdani

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