Tomaculous neuropathy: a clinical and electrophysiological study in patients with and without 1.5-Mb deletions in chromosome 17p11.2

Abstract

Tomaculous neuropathy is the descriptive term for the "sausagelike" swellings of myelin characteristic of hereditary neuropathy with liability to pressure palsies (HNPP). A 1.5-Mb deletion in chromosome 17p11.2 is present in the majority but not all cases of HNPP. We reviewed the clinical and electrophysiological features of 18 patients with tomaculous neuropathy and compared these features between patients with and without the typical large deletion. Patients presented with a variety of pressure-induced nerve palsies and brachial plexopathies. Two patients presented with generalized symmetric sensorimotor polyneuropathies. Four patients were older than their respective probands but were as yet asymptomatic. Nerve conduction studies demonstrated prolonged distal latencies out of proportion to slowing of conduction velocities, suggesting a distally accentuated myelinopathy. DNA analysis revealed the 1.5-Mb deletion in all the familial cases and in 3 of the sporadic patients. The clinical and electrophysiological features were similar between patients with and without the 1.5-Mb deletion in chromosome 17p11.2.