Hematopoietic stem cell transplantation (HSCT) is the only available treatment for the neurological involvement of disorders such as late-onset metachromatic leukodystrophy (MLD), mucopolysaccharidosis type I-Hurler (MPS-IH), and X-linked cerebral adrenoleukodystrophy (CALD). 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.
Saute, J. A. M., De Souza, C. F. M., De Oliveira Poswar, F., Donis, K. C., Campos, L. G., Deyl, A. V. S., … Jardim, L. B. (2016). Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and hurler syndrome. Arquivos de Neuro-Psiquiatria, 74(12), 953–966. https://doi.org/10.1590/0004-282x20160155
Mendeley helps you to discover research relevant for your work.