Article Text
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.
- CMT1, Charcot–Marie–Tooth disease type 1
- CV, conduction velocities
- DML, distal motor latencies
- DTR, deep tendon reflex
- HNPP, hereditary neuropathy with liability to pressure palsy
- MAP, motor action potential
- PMP-22, peripheral myelin protein 22
- SNAP, sensory nerve action potential
- hereditary neuropathy
- pressure palsy
- axonal loss
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Footnotes
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Competing interests: none declared