Case report

Unusual presentation of hereditary neuropathy with liability to pressure palsies

Muhammad U Farooq¹ , Jayne HW Martin¹ and Michael T Andary²

¹  Department of Neurology and Ophthalmology, Michigan State University, East Lansing, MI, USA

²  Department of Physical Medicine and Rehabilitation, Michigan State University, College of Osteopathic Medicine, East Lansing, MI, USA

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Journal of Brachial Plexus and Peripheral Nerve Injury 2008, 3:2doi:10.1186/1749-7221-3-2

Published:	24 January 2008

Abstract

Background

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-dominant painless peripheral neuropathy characterized by episodes of repeated focal pressure neuropathies at sites of entrapment/compression, with a considerable variability in the clinical course. Electrodiagnostic and genetic testing are important in the diagnostic evaluation of these patients.

Case presentation

We report an unusual HNPP phenotype, five compression neuropathies in four nerves in a patient with bilateral hand numbness. A 42-year-old female, presented with acute bilateral paresthesias and weakness in her hands after starting yoga exercises requiring hyperextension of her hands at the wrists. Her presentation was complicated by: a) a remote history of acute onset foot drop and subsequent improvement, b) previous diagnoses of demyelinating peripheral neuropathy, possibly Charcot-Marie-Tooth disease, and c) exposure to leprosy. Electrodiagnostic testing showed 5 separate compression neuropathies in 4 nerves including: severe left and right ulnar neuropathies at the wrist, left and right median neuropathies at the wrist and left ulnar neuropathy at the elbow. There was a mild generalized, primarily demyelinating, peripheral polyneuropathy. Based on the clinical suspicion and electrodiagnostic findings, consistent with profound demyelination in areas of compression, genetic analysis was done which identified a deletion of the PMP-22 gene consistent with HNPP.

Conclusion

HNPP can present with unusual phenotypes, such as 5 separate mononeuropathies, bilateral ulnar and median neuropathies at the wrists and ulnar neuropathy at the elbow with mild peripheral demyelinating polyneuropathy associated with the PMP-22 gene deletion.