Wolman Disease and Liver Transplantation: Case Report

Abstract

Wolman disease (WD) is an autosomal recessive lysosomal storage disorder, caused by a deficiency of lysosomal acid lipase. Affected infants usually develop abdominal distension, hepatosplenomegaly, steatorrhea, severe malabsorption and malnutrition, and adrenal calcification. Despite treatment attempts, the clinical outcome is poor. We report a case of a 4-month-old girl with WD, presented with a rapidly progressive liver failure and a liver transplantation was performed. The graft was retrieved from her mother. The postoperative period was uneventful. The child was in a satisfactory condition about 8 weeks after surgery and the enzyme replacement therapy (ERT) was started. During the treatment weight loss and vomiting persisted and a diarrhea started. Patient died due to severe respiratory failure seven weeks after starting ERT.