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Painless fractures and thermoregulation disturbances in sensory-autonomic neuropathy : Electrophysiological abnormalities and sural nerve biopsy
POLO A; ALDEGHERI R; BONGIOVANNI LG
NEUROPEDIATRICS , 2000, vol. 31, n° 3, p. 148-150 Doc n°: 99746 Localisation : Documentation IRR Descripteurs : DA43 - FRACTURES 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. Langue : ANGLAIS Tiré à part : OUI Identifiant basis : 2001215686 |
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