White matter lesions in Fabry disease before and after enzyme replacement therapy: a 2-year follow-up

Arquivos de Neuro-Psiquiatria

Laura B. Jardim²  Flávio Aesse¹  Leonardo M. Vedolin¹  Cláudio Pitta-pinheiro¹  João Marconato¹  Maira G. Burin²  Cláudia Cecchin²  Cristina B.o. Netto²  Ursula S. Matte²  Fernanda Pereira²  Luciane Kalakun²  Roberto Giugliani¹ 

[1] ,Hospital de Clínicas de Porto Alegre Medical Genetics Service Porto Alegre RS ,Brazil

关键词: Fabry disease;    enzyme-replacement therapy;    magnetic resonance imaging;    alpha-galactosidase A;    white matter lesion;    doença de Fabry;    terapia de reposição enzimática;    ressonância nuclear magnética;    alfa-galactosidase A;    lesões de substância branca;   

DOI  :  10.1590/S0004-282X2006000500002

来源: SciELO

【 摘 要 】

PURPOSE: To report the clinical and neuroimaging, central nervous system (CNS) findings of patients with Fabry disease (FD) during 24 months of enzyme replacement therapy (ERT) with agalsidase-alpha. METHOD: Eight patients were included. Six completed 24 months of ERT. Clinical and magnetic resonance imaging (MRI) data were obtained at 0, 12 and 24 months of ERT. White matter lesions (WML) were evaluated as well as their relation to age, symptoms and neurological examination (CNS score). RESULTS: MRI was stable in 3 patients. WML and CNS score worsened in one patient, fluctuated in another, and improved in the sixth patient. In the whole series, there were 15 WML at baseline, and 19 at the 24th month. In two years, 4 lesions disappeared, whereas 8 appeared. CONCLUSION: A widespread pattern of silent WML in FD was seen. In two years, some WML appeared, and some disappeared. If these phenomena were related to the natural history, remains to be demonstrated.

【 授权许可】

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