Clinical Worsening of Charcot-Marie-Tooth Disease Due to Overlapping Acute Inflammatory Polyneuropathy

We report a case of a six-year-old male with Charcot-Marie-Tooth disease (CMT) type 1B due to MPZ gene mutation who experienced an acute worsening of his symptoms a few years after the diagnosis. He was not able to walk without assistance and had transitory paresthesia in his hands, 10 days after suffering from an upper respiratory and diarrheal illness. The investigation revealed elevated cerebrospinal fluid (CSF) protein levels with no pleocytosis, and sensory and motor chronic demyelinating neuropathy without active denervation findings on electrophysiological studies. The patient completely recovered following treatment with intravenous immunoglobulin. We describe the patient's history and engage in a review of the literature to find similar clinical cases. It has been proposed that MPZ gene mutations can change the myelin structure and result in abnormal exposure of the nervous cell components to immune cells. Hence, patients with this type of CMT would be predisposed to concurrent inflammatory forms of neuropathy.