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Aseptic meningitis in Fabry disease due to a novel GLA variant: an expanded phenotype?
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.
Afiliação
  • Nóbrega PR; Division of Neurology, Department of Clinical Medicine, Faculty of Medicine, Universidade Federal do Ceará, Fortaleza, Brazil.
  • Morais JLA; Neurogenetics Unit, Department of Neurology, University of São Paulo School of Medicine, São Paulo, Brazil.
  • Ferreira AM; UNICHRISTUS University Center, Ceará, Brazil.
  • de Medeiros AD; Neurology Department, Hospital Geral de Fortaleza, Ceará, Brazil.
  • Duarte BA; Department of Clinical Medicine, Universidade de Fortaleza, Ceará, Brazil.
  • Rangel DM; UNICHRISTUS University Center, Ceará, Brazil.
  • Lima FO; Neurology Department, Hospital Geral de Fortaleza, Ceará, Brazil.
  • de Paiva ARB; UNICHRISTUS University Center, Ceará, Brazil.
  • Paim-Marques L; Division of Neurology, Department of Clinical Medicine, Faculty of Medicine, Universidade Federal do Ceará, Fortaleza, Brazil.
  • Kok F; Neurology Department, Hospital Geral de Fortaleza, Ceará, Brazil.
  • Pessoa ALS; Neurology Department, Hospital Geral de Fortaleza, Ceará, Brazil.
  • Braga-Neto P; Neurogenetics Unit, Department of Neurology, University of São Paulo School of Medicine, São Paulo, Brazil.
  • Carvalho FMM; Department of Clinical Medicine, Universidade de Fortaleza, Ceará, Brazil.
Neurol Sci ; 44(1): 319-327, 2023 Jan.
Article em En | MEDLINE | ID: mdl-36094773
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 GLA pathogenic variant was associated with aseptic meningitis in 2 of 5 family members. METHODS: This study began with identifying the proband, then screening family members for FD symptoms and evaluating symptomatic individuals for genetic and biochemical status. All patients underwent magnetic resonance imaging, and those with headache underwent cerebrospinal fluid (CSF) analysis. RESULTS: Five patients (3 females) from a single family were included in this study. Mean age at diagnosis was 20.6 years. Two patients (40%) had aseptic meningitis; one of them also had cerebrovascular events. C-reactive protein and erythrocyte sedimentation rate were elevated during aseptic meningitis episodes. Both patients responded to intravenous methylprednisolone with resolution of fever, headache, and vomiting. One of them recurred and needed chronic immunosuppression with azathioprine. CONCLUSION: We described aseptic meningitis in a family with a novel GLA variant. Meningitis might be a common phenomenon in FD and not a particularity of this variant. Understanding the mechanisms underlying meningitis and its association with cerebrovascular events may lead to a new paradigm of treatment for stroke in these patients. Further prospective studies with CSF collection in patients with FD and recurrent headache could help to elucidate this question.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Fabry / Meningite Asséptica Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Female / Humans Idioma: En Revista: Neurol Sci Assunto da revista: NEUROLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Brasil País de publicação: Itália
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Fabry / Meningite Asséptica Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Female / Humans Idioma: En Revista: Neurol Sci Assunto da revista: NEUROLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Brasil País de publicação: Itália