High-resolution sonography in hereditary neuropathy CMT Type 2a. A case report

Introduction: Hereditary motor or sensible neuropathy (HMSN), also called Charcot-Marie-Tooth's disease (CMT), is described as a genetically heterogeneous group of progressive peripheral neuropathies. The demyelinating CMT Type 1 is usually distinguished from the axonal CMT Type 2. The diagnostic significance of the sonography of the peripheral nervous system for classification of genetic subtypes has yet to be examined. In particular median nerve hypertrophy in CMT 2 linked to Mitofusin (MFN 2, CMT 2a) gene mutation has not been analyzed with sonography before. Material and Methods: CMT 2a was diagnosed in an 1…