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Pediatr Blood Cancer. 2007 Dec;49(7):987-9.

Correction of enzyme levels with allogeneic hematopoeitic progenitor cell transplantation in Niemann-Pick type B.

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  • 1Children's Memorial Hospital, Hematology/Oncology/Transplant, Chicago, Illinois, USA.


Niemann-Pick type B (NP) is an autosomal recessive lysosomal storage disorder with variable phenotypes for which few patients have undergone hematopoietic progenitor cell (HPC) transplantation. We present an 18-month old with NP type B who underwent two allogeneic HPC transplants from her HLA-identical sister. Sphingomyelinase in the peripheral leucocytes and skin fibroblasts was absent at diagnosis. Engraftment failed following initial transplant; therefore a second with the same donor was performed. Engraftment since has been durable; all subsequent sphingomyelinase levels have been normal. Our experience indicates that HPC transplantation for patients with NP type B is feasible and beneficial.

2007 Wiley-Liss, Inc

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