Charcot Marie Tooth disease type 4C with overlap of chronic infammatory demyelinating polyneuropathy: a case report

Case presentation: Patient female, born of a cousin marriage with history respiratory distress at birth requiring orotracheal intubation and was diagnosed dysphagia gastrostomy for 1 year. Presented neuropsychomotor developmental delay the age 6 started symptoms paraesthesias lower limbs cramps. At 12, patient presented muscle weakness pain in progressive worsening associated frequent falls. The referred to our service 13 years old. clinical evaluation, could easily stand up, initiate independent gait, wide-based gait tendency fall. She without support short period time. Grade III strength grade IV upper hypotrophy reflex sensitivity examinations hypoactive osteotendinous reflexes absent distally reduced limbs. Electroneuromyography demonstrated severe peripheral sensorimotor demyelinating polyneuropathy cerebrospinal fluid shown hiperproteynorraquia. During follow-up, an unstable course symptoms, worsen especially association infectious condition. Therefore, pulse therapy steroids chosen as treatment, expressive improvement symptoms. PMP22 genetic test performed, which ruled out Charcot Marie Tooth type 1A. An expansion revealed CMT4C alteration mutation SH3TC2 gene.