title: Bone marrow transplantation for Niemann-Pick type IA disease.
abstract: Bone marrow transplantation has been undertaken with encouraging results as therapy for a wide variety of lysosomal storage diseases. We report a case of Niemann-Pick disease Type IA in which, despite the presence of only mild hypotonia with depressed reflexes, the clinical course of the disease appeared to be only slightly modified by this procedure, which was performed at the earliest practical opportunity. The patient was diagnosed early when asymptomatic, because of a family history of an affected sibling who died at 14 months. He received a bone marrow transplant from an HLA-identical, MLC non-reactive sibling donor, whose leukocyte sphingomyelinase activity was in the homozygote normal range. There was adequate engraftment as evidenced by persistently normal leukocyte sphingomyelinase activities, and there was no evidence of graft-versus-host disease. Visceral storage and neurological impairment were less rapidly progressive than in his untreated sibling but he eventually died at 30 months. Autopsy confirmed that this was essentially due to the effects of the underlying Niemann-Pick disease. We conclude that despite some success in other neurovisceral lysosomal storage disorders, bone marrow transplantation is not likely to be an adequate treatment for Niemann-Pick disease Type IA.
authors.affiliation: Division of Oncology, Children's Hospital of Philadelphia, University of Pennsylvania.
authors.forename: E
authors.initials: E
authors.lastname: Bayever
authors.forename: N
authors.initials: N
authors.lastname: Kamani
authors.forename: P
authors.initials: P
authors.lastname: Ferreira
authors.forename: G A
authors.initials: GA
authors.lastname: Machin
authors.forename: M
authors.initials: M
authors.lastname: Yudkoff
authors.forename: K
authors.initials: K
authors.lastname: Conard
authors.forename: M
authors.initials: M
authors.lastname: Palmieri
authors.forename: J
authors.initials: J
authors.lastname: Radcliffe
authors.forename: D A
authors.initials: DA
authors.lastname: Wenger
authors.forename: C S
authors.initials: CS
authors.lastname: August
mesh_terms: D016026:Bone Marrow Transplantation; D001921:Brain / Q000201:enzymology; D016572:Cyclosporine / Q000009:adverse effects; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology; D050356:Lipid Metabolism; D008099:Liver / Q000378:metabolism / Q000473:pathology; D008297:Male; D009542:Niemann-Pick Diseases / Q000473:pathology / Q000601:surgery*; D011597:Psychomotor Performance / Q000502:physiology; D013108:Sphingomyelin Phosphodiesterase / Q000097:blood; D001616:beta-Galactosidase / Q000378:metabolism
chemical_list: D016572:Cyclosporine; D013108:Sphingomyelin Phosphodiesterase; D001616:beta-Galactosidase