Hereditary neuropathy with liability to pressure palsy: fulminant development with axonal loss during military training.
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.
Horowitz
S H
SH
Division of Neurology, M-178, University of Missouri School of Medicine, Columbia 65212, USA. horowitzs@health.missouri.edu
Spollen
L E
LE
Yu
W
W
D000328:Adult; D001369:Axons / Q000473:pathology; D001706:Biopsy; D003937:Diagnosis, Differential; D020833:Diffuse Axonal Injury / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D020271:Heredodegenerative Disorders, Nervous System / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008889:Military Personnel; D018482:Muscle, Skeletal / Q000294:innervation / Q000473:pathology; D009185:Myelin Proteins / Q000235:genetics; D009186:Myelin Sheath / Q000473:pathology; D009408:Nerve Compression Syndromes / Q000175:diagnosis* / Q000235:genetics; D009460:Neurologic Examination; D010243:Paralysis / Q000175:diagnosis* / Q000235:genetics; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis* / Q000235:genetics; D010806:Physical Education and Training; D012183:Retrograde Degeneration / Q000175:diagnosis / Q000235:genetics; D013497:Sural Nerve / Q000473:pathology
D009185:Myelin Proteins; C073687:PMP22 protein, human