Tomaculous neuropathy with unusual clinical aspects

Tomaculous neuropathy represents the morphological substrate of the recurrent familial neuropathy with liability to pressure palsies. Some ultrastructural changes characterizing the tomaculous neuropathy can occur as incidental aspects in other different neuropathies. Few tomaculous neuropathy cases with clinical aspect of chronic polyneuropathy without paretic episodes have been mentioned in the literature. In the present work, we report four cases who offered the morphological surprise of a true tomaculous neuropathy with 15-37% of the teased fibres bearing tomaculae sized: 55-106 microns/20-23 microns, on the background of a demyelinating neuropathy with 25-56% of the teased fibres showing segmental de- or remyelination. The clinical and electrophysiological diagnoses of these 4 patients were: HSMN type I (2 cases), HSMN type VIII (polyneuropathy associated with a cerebello-extrapyramidal syndrome -1 case), and a neurogenic scapuloperoneal syndrome (1 case). The specificity of the tomaculous neuropathy is discussed.