Tomaculous neuropathy: hereditary predisposition to pressure palsies.
A family is described in which six members in three generations have been affected by a remittent and pressure-sensitive mononeuritis or mononeuritis multiplex. In addition, nerve conduction studies have demonstrated the presence of peripheral neuropathy in clinically unaffected as well as affected family members, thus providing evidence of an autosomal dominant inheritance pattern. A sural nerve biopsy from one of of an autosomal dominant inheritance pattern. A sural nerve biopsy from one of the clinically affected members of this family showed 'sausage-shaped' swellings of myelin sheaths characteristic of tomaculous neuropathy. This rare condition, which is briefly reviewed, appears to be a distinctive clinicopathological entity and usually follows a benign course.
D000293:Adolescent; D000328:Adult; D004576:Electromyography; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009186:Myelin Sheath / Q000648:ultrastructure; D009431:Neural Conduction; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D010543:Peroneal Nerve / Q000503:physiopathology; D011826:Radial Nerve / Q000503:physiopathology; D013497:Sural Nerve / Q000473:pathology / Q000648:ultrastructure; D014459:Ulnar Nerve / Q000503:physiopathology