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

• Autor(a) principal: Saute,Jonas Alex Morales
• Data de Publicação: 2016
• Outros Autores: Souza,Carolina Fischinger Moura de, Poswar,Fabiano de Oliveira, Donis,Karina Carvalho, Campos,Lillian Gonçalves, Deyl,Adriana Vanessa Santini, Burin,Maira Graeff, Vargas,Carmen Regla, Matte,Ursula da Silveira, Giugliani,Roberto, Saraiva-Pereira,Maria Luiza, Vedolin,Leonardo Modesti, Gregianin,Lauro José, Jardim,Laura Bannach
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Arquivos de neuro-psiquiatria (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2016001200953
• topic: hematopoietic stem cell transplantation; leukodystrophy, metachromatic; mucopolysaccharidosis I; adrenoleukodystrophy

ABSTRACT 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.