
Recurrent Stroke-Like Episodes in X-Linked Charcot-Marie-Tooth Type 1 Disease: Characteristic Brain MRI Findings
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.
Keywords: ADEM = acute disseminated encephalomyelitis; ALD = Adrenoleukodystrophy; CLOCCs = cytotoxic lesions of the corpus callosum; CLOCC = cytotoxic lesion of the corpus callosum; CMTX1 = X-linked type of Charcot-Marie-Tooth type 1; CMTX = X-linked type of Charcot-Marie-Tooth; CMT = Charcot-Marie-Tooth; Cx32 = connexin 32; MELAS = mitochondrial encephalopathy with lactic acidosis and stroke-like episodes
Document Type: Research Article
Publication date: 01 July 2025
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