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X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is a common hereditary motor and sensory neuropathy caused by mutations in the gap-junction beta-1 gene (GJB1) located on chromosome Xq13.1. Children and young adults with CMTX1 rarely present with transient central nervous system symptoms. While the typical onset occurs in early childhood, diagnosis may be delayed until adolescence or even adulthood. The challenge in clinical diagnosis arises when peripheral neuropathy is not yet evident, and recurrent encephalopathy with focal neurological deficits is present. Here, we present a case involving a teenager who was initially evaluated as a stroke alert and later diagnosed with CMTX1.

A 14-year-old boy with no past medical history presented at the emergency room as a stroke alert. At home, he exhibited right-sided facial droop, right arm weakness, and numbness on the right side of his body. Physical examination revealed high-arched feet, bilateral lower extremity hyporeflexia, hypertrophic calves, and a tendency to toe-walk. No preceding illness was reported. A CT scan of the head showed no abnormalities, while an MRI of the brain revealed symmetric parenchymal hyperintensities and diffusion restrictions in the bilateral centrum semiovale and the splenium of the corpus callosum. The boy's symptoms lasted approximately 24 hours. Both serum and cerebrospinal fluid studies were unremarkable. Family history indicated a history of CMT in his maternal grandfather. Genetic testing confirmed a pathogenic mutation in the GJB1 gene.

This case demostrates the importance of recognizing transient stroke-like symptoms in patients with CMTX1 to prevent unnecessary testing, avoid thrombolytic therapy, and reduce undue anxiety for patients and their families. It also emphasizes that central nervous system manifestations can precede neuropathic symptoms, suggesting that genetic testing should be considered in select cases.