Autor(es): Marques, Ana João ; Matas, Andreia ; Veiga, Andreia ; Gabriel, João Paulo
Data: 2024
Origem: SINAPSE
Assunto(s): Charcot-Marie-Tooth Disease; Multiple Sclerosis, Relapsing- Remitting; Doença de Charcot Marie Tooth; Esclerose Múltipla Recidivante- Remitente
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.
