[Wolman disease].

BACKGROUND

Wolman disease is a severe disease associated with hepatosplenomegaly and adrenal calcifications; it is nearly always fatal in the first year of life.

METHODS

A boy was born to consanguineous parents. His weight was 3,500 g, height 53 cm. Hepatomegaly was observed at the age of 26 days; he also had vomiting and watery stools with failure to thrive. Diagnosis of Wolman disease was suspected due to family history. Two sisters had died at the age of 3 months without precise diagnosis; both had abdominal distension, hepatosplenomegaly, anemia and inanition; CT scan showed calcifications of adrenal glands in one of them that had been attributed to adrenal hemorrhage. Investigations in our patient showed no adrenal calcification, hepatomegaly without splenomegaly, anemia (Hb: 8 g/100 ml). Liver biopsy showed enlarged and vacuolated parenchymal and Kupffer cells but the marrow did not contain foam cells. Acid lipase deficiency was demonstrated in cultured skin fibroblasts, permitting prenatal diagnosis in a further sib.

CONCLUSIONS

This case of Wolman disease was the first seen in Tunisia; it was inherited as an autosomal recessive disorder; this patient, as two of his sisters, died during the first 6 months of life.