¹Department of Pediatrics, Division of Hematology-Oncology, Blood, and Bone Marrow Transplantation, University of Minnesota, Minneapolis, MN, USA

²Department of Therapeutic Radiology, University of Minnesota, Minneapolis, MN, USA

³Department of Pediatrics, Division of Medical Genetics, Wayne State University, Detroit, MI, USA

⁴Department of Medicine, Wake Forest University School of Medicine, Winston Salem, NC, USA

Correspondence to: Dr W Krivit, University of Minnesota, Box 447, Rm D-548 Mayo Building, 420 Delaware St SE, Minneapolis, MN 55455, USA

Wolman disease is characterized by severe diarrhea and malnutrition leading to death during infancy. Lysosomal acid lipase deficiency is the cause of the symptoms and signs. It is inherited in an autosomal recessive manner. All Wolman disease patients have adrenal gland calcification. Previous therapeutic attempts have failed to provide remission. We report successful long-term bone marrow engraftment in a patient with Wolman disease resulting in continued normalization of peripheral leukocyte lysosomal acid lipase enzyme activity. Diarrhea is no longer present. Now, at 4 years of age, this patient is gaining developmental milestones. Cholesterol and triglyceride levels are normal. Liver function is normal. This is the first long-term continued remission reported for Wolman disease. Bone Marrow Transplantation (2000) 26, 567-570.

Wolman disease; bone marrow transplantation; lysosomal acid lipase