Charcot-Marie-Tooth Type 2 Disease and Relapsing Remitting Multiple Sclerosis Coexistence

Authors

  • 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

Keywords:

Charcot-Marie-Tooth Disease, Multiple Sclerosis, Relapsing- Remitting

Abstract

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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References

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Published

2024-06-05

How to Cite

1.
Marques AJ, Matas A, Veiga A, Gabriel JP. Charcot-Marie-Tooth Type 2 Disease and Relapsing Remitting Multiple Sclerosis Coexistence. Sinapse [Internet]. 2024 Jun. 5 [cited 2024 Jul. 22];. Available from: https://sinapse.pt/index.php/journal/article/view/87

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Case Reports

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