Article
Aseptic meningitis in Fabry disease due to a novel GLA variant: an expanded phenotype?
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jan 2023
Nóbrega Paulo Ribeiro, Morais João Lucas Araújo, Ferreira Alliane Milliane, de Medeiros Alisson Dantas, Duarte Beatrice Araújo, Rangel Deborah Moreira, Lima Fabrício Oliveira, de Paiva Anderson Rodrigues Brandão, Paim-Marques Luciana, Kok Fernando, Pessoa André Luiz Santos, Braga-Neto Pedro, Carvalho Fernanda Martins Maia
Abstract excerpt
BACKGROUND: F abry disease (FD) is an X-linked lysosomal storage disorder with accumulation of globotriosylceramide, causing neurologic involvement mainly as acroparesthesias and cerebrovascular disease. Aseptic meningitis has been reported in 11 patients with FD, but no prior study has correlated alpha-galactosidase (GLA) specific variants with meningitis. We present in this manuscript a family in which a novel...
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