caa a22 4500 469044128 CHVBK 20180323132819.0 cr unu---uuuuu 170328e19921101xx s 000 0 eng 10.1007/BF01800234 doi (NATIONALLICENCE)springer-10.1007/BF01800234 Bone marrow transplantation for Niemann-Pick Type IA disease [Elektronische Daten] [E. Bayever, N. Kamani, P. Ferreira, G. Machin, M. Yudkoff, K. Conard, M. Palmieri, J. Radcliffe, D. Wenger, C. August] Summary: 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. SSIEM and Kluwer Academic Publishers, 1992 Bayever E. Divisions of Oncology, Metabolism, and Pediatric Psychology, The Children's Hospital of Philadelphia, USA aut Kamani N. Divisions of Oncology, Metabolism, and Pediatric Psychology, The Children's Hospital of Philadelphia, USA aut Ferreira P. Departments of Pediatrics and Pathology, University of Alberta, Edmonton, Alberta, Canada aut Machin G. Departments of Pediatrics and Pathology, University of Alberta, Edmonton, Alberta, Canada aut Yudkoff M. Divisions of Oncology, Metabolism, and Pediatric Psychology, The Children's Hospital of Philadelphia, USA aut Conard K. Divisions of Oncology, Metabolism, and Pediatric Psychology, The Children's Hospital of Philadelphia, USA aut Palmieri M. Divisions of Oncology, Metabolism, and Pediatric Psychology, The Children's Hospital of Philadelphia, USA aut Radcliffe J. Divisions of Oncology, Metabolism, and Pediatric Psychology, The Children's Hospital of Philadelphia, USA aut Wenger D. Departments of Medicine (Medical Genetics), Biochemistry and Molecular Biology, Jefferson Medical College, Philadelphia, USA aut August C. Divisions of Oncology, Metabolism, and Pediatric Psychology, The Children's Hospital of Philadelphia, USA aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/6(1992-11-01), 919-928 0141-8955 15:6<919 1992 15 10545 https://doi.org/10.1007/BF01800234 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01800234 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Bayever E. Divisions of Oncology, Metabolism, and Pediatric Psychology, The Children's Hospital of Philadelphia, USA aut NATIONALLICENCE 700 1- Kamani N. Divisions of Oncology, Metabolism, and Pediatric Psychology, The Children's Hospital of Philadelphia, USA aut NATIONALLICENCE 700 1- Ferreira P. Departments of Pediatrics and Pathology, University of Alberta, Edmonton, Alberta, Canada aut NATIONALLICENCE 700 1- Machin G. Departments of Pediatrics and Pathology, University of Alberta, Edmonton, Alberta, Canada aut NATIONALLICENCE 700 1- Yudkoff M. Divisions of Oncology, Metabolism, and Pediatric Psychology, The Children's Hospital of Philadelphia, USA aut NATIONALLICENCE 700 1- Conard K. Divisions of Oncology, Metabolism, and Pediatric Psychology, The Children's Hospital of Philadelphia, USA aut NATIONALLICENCE 700 1- Palmieri M. Divisions of Oncology, Metabolism, and Pediatric Psychology, The Children's Hospital of Philadelphia, USA aut NATIONALLICENCE 700 1- Radcliffe J. Divisions of Oncology, Metabolism, and Pediatric Psychology, The Children's Hospital of Philadelphia, USA aut NATIONALLICENCE 700 1- Wenger D. Departments of Medicine (Medical Genetics), Biochemistry and Molecular Biology, Jefferson Medical College, Philadelphia, USA aut NATIONALLICENCE 700 1- August C. Divisions of Oncology, Metabolism, and Pediatric Psychology, The Children's Hospital of Philadelphia, USA aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/6(1992-11-01), 919-928 0141-8955 15:6<919 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer