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Successful Umbilical Cord Blood Stem Cell Transplantation for Pelizaeus-Merzbacher Disease
  • Neha Rastogi,
  • Yeeshu Sudan,
  • Satya Yadav
Neha Rastogi
Medanta The Medicity
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Yeeshu Sudan
Medanta The Medicity
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Satya Yadav
Medanta The Medicity
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Abstract

Pelizaeus-Merzbacher Disease (PMD) is a rare X-linked recessive leukodystrophy caused by mutations in the proteolipid protein-1 gene on the Xq22.2 chromosome and is characterized clinically by nystagmus, spastic quadriplegia, ataxia and developmental delay. There is no definitive curative treatment. We report here a successful matched unrelated umbilical cord blood stem cell transplantation for PMD in a 2-year-old boy. He was conditioned with Busulfan, Cyclophosphamide and Rabbit anti-thymoglobulin. MMF and Cyclosporine were used as graft-vs-host disease prophylaxis. His neutrophil engrafted on day+29 and platelets on day+33. It lead to disease stabilisation and improvement in development of the child with PMD.