Abstract
Background: Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of disorders best known for causing inherited forms of peripheral neuropathy. History of CMT disease is not considered relevant in patients presenting with acute central neurologic manifestations of acute stroke. The case described here should alert clinicians to the possibility of transient stroke-like episodes in young patients suffering from CMTX1, X‐linked variant of CMT.
Case description: A 21-year-old man presented to our emergency department with acute onset dysarthria, right facial weakness and right hemiparesis, which started 2 hours before his admission. He was treated with intravenous thrombolysis with a suspected diagnosis of acute ischemic stroke with full resolution of symptoms. The following day he experienced another stroke-like episode of acute onset of dysarthria and left facial weakness that resolved within 3 hours. The patient underwent stroke in the young work-up which was normal. MRI of the brain showed symmetric, non-enhancing areas of restricted diffusion in the corona radiata bilaterally and corpus callosum, also demonstrated on T2/fluid-attenuated inversion recovery (FLAIR) sequences. Clinical and familial investigations resulted in diagnosing CMTX1, X‐linked variant of CMT.
Discussion: This case illustrates that CMTX1 disease can have central nervous system (CNS) manifestations that could mimic stroke-like neurological deficits with pathological MRI findings. The prognosis of the CNS phenotype of CMTX1 is usually good, with spontaneous resolution without