Neuropediatrics 2000; 31(3): 148-150
DOI: 10.1055/s-2000-7488
Short Communication

Georg Thieme Verlag Stuttgart · New York

Painless Fractures and Thermoregulation Disturbances in Sensory-Autonomic Neuropathy: Electrophysiological Abnormalities and Sural Nerve Biopsy

A. Polo1 , R. Aldegheri2 , L. G. Bongiovanni1 , T. Cavallaro1 , N. Rizzuto1
  • 1 Dipartimento di Scienze Neurologiche e della Visione, Sezione di Neurologia
  • 2 Clinica Ortopedica, Universitá degli Studi di Verona, Verona, Italy
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Publication History

Publication Date:
31 December 2000 (online)

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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.

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