Progressive numbness and weakness of extremities for four years

Abstract

Hereditary motor and sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth (CMT), is a hereditary peripheral neuropathy characterized by progressive numbness and weakness of the extremities, atrophy and paresthesia, with genetic mutations in various associated genes such as PMP22, in most cases. Most CMT patients suffer from mild to moderate paresthesia, but only 20-30% of them complain of pain in the limbs. Diabetes mellitus also causes abnormal sensation in peripheral nerves and might arouse confusion in the diagnosis of CMT especially in those with comorbidity of diabetes. Here, we present a late onset case of a PMP22 heterozygote complicated with one year of type 2 diabetes mellitus, who has significant tingling in his fingers and toes. We also present a typical neural ultrasound image of a diffusedly thickened nerve of this patient in support of the diagnosis of CMT1. DOI: 10.3969/j.issn.1672-6731.2017.01.014