RT Journal Article
SR Electronic
T1 Hereditary neuropathy with liability to pressure palsy: fulminant development with axonal loss during military training
JF Journal of Neurology, Neurosurgery & Psychiatry
JO J Neurol Neurosurg Psychiatry
FD BMJ Publishing Group Ltd
SP 1629
OP 1631
DO 10.1136/jnnp.2003.029314
VO 75
IS 11
A1 S H Horowitz
A1 L E Spollen
A1 W Yu
YR 2004
UL http://jnnp.bmj.com/content/75/11/1629.abstract
AB 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.