A Case of Charcot-Marie-Tooth 1A Showing Atypical Clinical and Pathological Features

A 7 year-old girl presented with generalized muscle weakness and delayed motor development. She was able to stand up at 15 months and began to walk at 4 years of age. A nerve conduction study showed severe demyelinating neuropa-thy .There was no family history of peripheral neuropathy, and her parents and younger brother were clinically and electrophysiologically normal. A sural nerve biopsy showed moderate loss of myelinated fibers with onion-bulb forma-tions. Many teased nerve fibers revealed typical tomaculous changes. However the molecular genetic study of the patient confirms the duplication of 17p11.2-p22 on a polymerase chain reaction using D17S261 as a primer but not in her parents.