1. Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome.
- Author
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Saute JA, Souza CF, Poswar FO, Donis KC, Campos LG, Deyl AV, Burin MG, Vargas CR, Matte UD, Giugliani R, Saraiva-Pereira ML, Vedolin LM, Gregianin LJ, and Jardim LB
- Subjects
- Adolescent, Adrenoleukodystrophy genetics, Adrenoleukodystrophy mortality, Adult, Age of Onset, Brain diagnostic imaging, Brain pathology, Brazil epidemiology, Child, Child, Preschool, Female, Humans, Leukodystrophy, Metachromatic genetics, Leukodystrophy, Metachromatic mortality, Magnetic Resonance Imaging, Male, Mucopolysaccharidosis I genetics, Mucopolysaccharidosis I mortality, Pedigree, Retrospective Studies, Tissue Donors, Transplantation Conditioning methods, Treatment Outcome, White Matter diagnostic imaging, Young Adult, Adrenoleukodystrophy surgery, Hematopoietic Stem Cell Transplantation mortality, Leukodystrophy, Metachromatic surgery, Mucopolysaccharidosis I surgery
- 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.
- Published
- 2016
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