Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome

Arq Neuropsiquiatr. 2016 Dec;74(12):953-966. doi: 10.1590/0004-282X20160155.

Abstract

Objective: To describe survival and neurological outcomes after HSCT for these disorders.

Methods: Seven CALD, 2 MLD and 2 MPS-IH patients underwent HSCT between 2007 and 2014. Neurological examinations, magnetic resonance imaging, molecular and biochemical studies were obtained at baseline and repeated when appropriated.

Results: Favorable outcomes were obtained with 4/5 related and 3/6 unrelated donors. Two patients died from procedure-related complications. Nine transplanted patients were alive after a median of 3.7 years: neurological stabilization was obtained in 5/6 CALD, 1/2 MLD, and one MPS-IH patient. Brain lesions of the MPS-IH patient were reduced four years after HSCT.

Conclusion: Good outcomes were obtained when HSCT was performed before adulthood, early in the clinical course, and/or from a related donor.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adrenoleukodystrophy / genetics
  • Adrenoleukodystrophy / mortality
  • Adrenoleukodystrophy / surgery*
  • Adult
  • Age of Onset
  • Brain / diagnostic imaging
  • Brain / pathology
  • Brazil / epidemiology
  • Child
  • Child, Preschool
  • Female
  • Hematopoietic Stem Cell Transplantation* / mortality
  • Humans
  • Leukodystrophy, Metachromatic / genetics
  • Leukodystrophy, Metachromatic / mortality
  • Leukodystrophy, Metachromatic / surgery*
  • Magnetic Resonance Imaging
  • Male
  • Mucopolysaccharidosis I / genetics
  • Mucopolysaccharidosis I / mortality
  • Mucopolysaccharidosis I / surgery*
  • Pedigree
  • Retrospective Studies
  • Tissue Donors
  • Transplantation Conditioning / methods
  • Treatment Outcome
  • White Matter / diagnostic imaging
  • Young Adult