title: Wolman disease successfully treated by bone marrow transplantation.
abstract: 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.
authors.affiliation: Department of Pediatrics, University of Minnesota, Minneapolis 55455, USA.
authors.forename: W
authors.initials: W
authors.lastname: Krivit
authors.forename: C
authors.initials: C
authors.lastname: Peters
authors.forename: K
authors.initials: K
authors.lastname: Dusenbery
authors.forename: Y
authors.initials: Y
authors.lastname: Ben-Yoseph
authors.forename: N K
authors.initials: NK
authors.lastname: Ramsay
authors.forename: J E
authors.initials: JE
authors.lastname: Wagner
authors.forename: R
authors.initials: R
authors.lastname: Anderson
mesh_terms: D016026:Bone Marrow Transplantation; D005192:Family Health; D006085:Graft Survival / Q000187:drug effects; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology; D008049:Lipase / Q000378:metabolism; D008297:Male; D009154:Mutation; D009679:Nuclear Family; D015223:Wolman Disease / Q000188:drug therapy / Q000628:therapy*
chemical_list: D008049:Lipase