title: Painless fractures and thermoregulation disturbances in sensory-autonomic neuropathy: electrophysiological abnormalities and sural nerve biopsy.
abstract: We describe the case of a young girl suffering from thermoregulation disturbances, painless fractures and arthropathy since early childhood. The patient was diagnosed as having a hereditary sensory autonomic neuropathy. Although needle EMG, conventional nerve conduction studies and somatosensory evoked potentials gave normal results, sympathetic skin responses (SSRs) were absent. Sural nerve biopsy showed a substantial reduction in the number of small myelinated and unmyelinated fibers. We emphasize the importance of SSR testing in revealing a condition which is otherwise difficult to identify by electrophysiological techniques. The combined evidence of functional and morphological findings is strongly suggestive of selective peripheral nerve involvement.
authors.affiliation: Dipartimento di Scienze Neurologiche e della Visione, Policlinico Borgo Roma, Verona, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Polo
authors.forename: R
authors.initials: R
authors.lastname: Aldegheri
authors.forename: L G
authors.initials: LG
authors.lastname: Bongiovanni
authors.forename: T
authors.initials: T
authors.lastname: Cavallaro
authors.forename: N
authors.initials: N
authors.lastname: Rizzuto
mesh_terms: D000293:Adolescent; D001706:Biopsy; D001833:Body Temperature Regulation / Q000502:physiology*; D004576:Electromyography / Q000379:methods; D005260:Female; D050723:Fractures, Bone / Q000209:etiology*; D005712:Galvanic Skin Response; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D009431:Neural Conduction / Q000502:physiology; D013497:Sural Nerve / Q000473:pathology* / Q000503:physiopathology; D013979:Tibial Nerve / Q000166:cytology