An exceptional presentation of Charcot–Marie‐tooth 1C disease: Case report of a diagnostic dilemma

Abstract

AbstractCharcot–Marie‐Tooth (CMT) disease is the commonest form of hereditary sensorimotor neuropathy and presents with a vast plethora of phenotypes and genetic mutations. CMT1C is a rarer variant presenting with lower limb predominant sensorimotor involvement, associated with LITAF/SIMPLE gene mutation. We describe a case of an 18‐year‐old male with progressive asymmetrical upper limb weakness and atrophy with an extensive epidural arachnoid cyst in cervicothoracic spine. Nerve conduction study and genetic analysis aided the diagnosis of CMIT1C. This is the first case reported with the coexistence of the two pathologies that may turn out to be a phenotype of the same disease spectrum in future research.