Intractable ascites as a manifestation of Wolman’s disease: report of two sibs
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Wolman disease (WD) is a rare, inherited, rapidly fatal condition presenting in early infancy. The disease manifests in the first month of life with failure to thrive, vomiting, diarrhea, abdominal distension, hepatosplenomegaly and bilateral adrenal calcification and is nearly always fatal before the age of 1 year. Barring a case report of isolated fetal ascites, there is no report of intractable ascites as the presentation of WD till date. We report two siblings with WD who both had intractable ascites and required therapeutic paracentesis, albumin infusion, and diuretics to control tense ascites. Although rare, WD should be considered in the differential diagnosis of infantile ascites.
KeywordsChildhood Diuretics Familial Liver storage disorder Paracentesis
- 3.Assmann G, Seedorf U. Acid lipase deficiency: Wolman disease and cholesterylester disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease, Vol 2. 7th ed. New York: McGraw-Hill Inc; 1995. p. 2563–87.Google Scholar