Case report reveals characteristic brain MRI abnormalities in recurrent stroke-like neurologic deficits, suggesting the role of CMTX1.
Charcot-Marie-Tooth disease (CMT) comprises a diverse group of hereditary neurologic disorders, predominantly autosomal dominant but also X-linked forms. While CMT primarily affects the peripheral nervous system, the X-linked CMT type 1 (CMTX1) can also cause transient CNS symptoms and reversible white matter lesions. This case of a young man with transient and recurrent stroke-like neurologic deficits and bilateral white matter signal abnormalities on brain MRI underscores the importance of considering CMTX1 in similar presentations and highlights its typical CNS involvement.
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Siala et al. (2025) studied this question.
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