| Literature DB >> 15489403 |
S H Horowitz1, L E Spollen, W Yu.
Abstract
Hereditary neuropathy with liability to pressure palsy (HNPP) is characterised by recurrent mononeuropathies following minor trauma. We describe a case of fulminant HNPP beginning on the first day of military physical training. Protracted weakness, muscle atrophy, hand contractures, and multifocal sensory loss developed during a further three weeks of basic training. Nerve conduction changes were typical of HNPP, but without segmental slowing. Electromyographically, there was prominent acute denervation in muscles of the hands and right shoulder. Sural nerve biopsy demonstrated tomaculae and remyelination. Genetic testing revealed PMP-22 gene deletion. This case report demonstrates that HNPP can present with rapidly progressive peripheral nerve dysfunction and electrophysiological evidence of focal axonal loss.Entities:
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Year: 2004 PMID: 15489403 PMCID: PMC1738805 DOI: 10.1136/jnnp.2003.029314
Source DB: PubMed Journal: J Neurol Neurosurg Psychiatry ISSN: 0022-3050 Impact factor: 10.154