Coexistência de Charcot-Marie-Tooth Tipo 2 e Esclerose Múltipla Forma Surto-Remissão

Autores

  • Ana João Marques Neurology Department, Centro Hospitalar de Trás-os-Montes e Alto Douro, Vila Real, Portugal https://orcid.org/0000-0001-9347-9492
  • Andreia Matas Neurology Department, Centro Hospitalar de Trás-os-Montes e Alto Douro, Vila Real, Portugal
  • Andreia Veiga Neurology Department, Centro Hospitalar de Trás-os-Montes e Alto Douro, Vila Real, Portugal
  • João Paulo Gabriel Neurology Department, Centro Hospitalar de Trás-os-Montes e Alto Douro, Vila Real, Portugal

DOI:

https://doi.org/10.46531/sinapse/CC/230081/2024

Palavras-chave:

Doença de Charcot Marie Tooth, Esclerose Múltipla Recidivante- Remitente

Resumo

Multiple sclerosis (MS) and Charcot-Marie-Tooth disease (CMT) association has been reported, namely in CMTX and CMT1A.

A 37-year-old woman with CMT type 2 (MFN2 mutation) developed subacute brainstem syndrome (left internuclear ophthalmoplegia, facial palsy and ataxia). Brain magnetic resonance imaging revealed infratentorial, periventricular and subcortical lesions, typical of MS (positive CSF oligoclonal bands, negative anti-aquaporin 4 and anti-MOG antibodies). Patient underwent natalizumab, reaching NEDA-3 – no evidence of disease activity - (3-years follow-up).

Patients with MFN2 mutations may disclose optic atrophy and periventricular white matter T2 signal changes mimicking MS. Notwithstanding, this is, probably, the first report of proven concomitance between both conditions.

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Publicado

2024-06-05

Como Citar

1.
Marques AJ, Matas A, Veiga A, Gabriel JP. Coexistência de Charcot-Marie-Tooth Tipo 2 e Esclerose Múltipla Forma Surto-Remissão. Sinapse [Internet]. 5 de Junho de 2024 [citado 11 de Outubro de 2024];24(2):78-81. Disponível em: https://sinapse.pt/index.php/journal/article/view/87

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