Charcot-Marie-Tooth Disease Presenting in the Postpartum Period: A Case Report

Charcot-Marie-Tooth disease (CMT) is the most common hereditary peripheral neuropathy. It presents a wide range of genetic and phenotypic heterogeneity. CMT disease type 1A (CMT1A), caused by PMP22 gene duplication, represents the most common subtype of CMT in Western countries. It usually presents insidiously with stigmata of chronic neuropathy. We report a rare case of CMT1A, which presents acutely in the postpartum period. A young woman who experienced acute bilateral lower limb numbness and weakness post-caesarean section, which was initially attributed to spinal anaesthesia. The initial work-up was normal, but subsequent nerve conduction studies indicated a possibility of hereditary, demyelinating sensory-motor neuropathy. Genetic testing confirmed the diagnosis of CMT1A. The article explores the effects of pregnancy on patients with CMT in terms of potential worsening or unmasking of CMT symptoms and the development of obstetric complications in these patients. It also sheds some light on the role of electrophysiological studies and various biomarkers to differentiate between acquired and hereditary neuropathy. In conclusion, it emphasizes the importance of considering hereditary neuropathies in the differential diagnosis of acute atypical neurological presentation during the postpartum period.