Sensory-motor chronic neuropathy in two siblings: atypical presentation of tomaculous neuropathy.
Two siblings, born from a consanguineous marriage, in which tomaculous neuropathy (TN), diagnosed after nerve biopsy, presented as a chronic sensory-motor neuropathy. The clinical manifestations include also in both patients thyroid multinodular struma and in one case myopathic-like features. We believe that TN must be suspected not only in hereditary neuropathy with liability to pressure palsies, but also in any case with chronic sensory-motor neuropathy.
Malandrini
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Istituto di Scienze Neurologiche, Università di Siena, Italy.
Guazzi
G C
GC
Federico
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D000293:Adolescent; D001369:Axons / Q000648:ultrastructure; D001706:Biopsy; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009186:Myelin Sheath / Q000473:pathology*; D009460:Neurologic Examination; D010375:Pedigree; D010525:Peripheral Nerves / Q000473:pathology*; D012583:Schwann Cells / Q000473:pathology