An Sist Sanit Navar. 2026 Jul 21;49(2):e1157. doi: 10.23938/ASSN.1157.
ABSTRACT
Charcot-Marie-Tooth syndrome type X1 (CMTX1) is an inherited motor and sensory neuropathy caused by mutations in the GJB1 gene located in the X chromosome. Although uncommon, stroke-like episodes have been reported in patients with CMTX1, typically triggered by stress and characterized by distinctive magnetic resonance imaging findings with complete spontaneous resolution. We report the case of a 13-year-old boy with CMTX1 and no prior neurological symptoms who developed right hemiparesis, dysarthria, and facial deviation following a wasp sting. After activation of the stroke code, brain magnetic resonance revealed bilateral hyperintense lesions in the centrum semiovale without evidence of thrombosis. To our knowledge, this is the first paediatric case of CMTX1 in which an insect sting acted as a trigger, mimicking stroke. Prompt activation of stroke protocols and neuroimaging is essential to establish the diagnosis and exclude other conditions.
PMID:42478917 | DOI:10.23938/ASSN.1157