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Hereditary neuropathy with liability to pressure palsies: description of seven patients without known family history
Author(s) -
Beydoun S. R.,
Sykes S. N.,
Ganguly G.,
Lee T. S.
Publication year - 2008
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.2007.00935.x
Subject(s) - medicine , mononeuropathy , asymptomatic , polyneuropathy , family history , etiology , peripheral myelin protein 22 , nerve conduction , pediatrics , nerve conduction study , peripheral neuropathy , natural history , pathological , surgery , dermatology , pathology , myelin , central nervous system , endocrinology , diabetes mellitus
Objectives – Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited disorder resulting in a polyneuropathy with particular involvement at sites of entrapment, and is often underdiagnosed or misdiagnosed. We report findings on seven patients referred for evaluation of focal mononeuropathies or polyneuropathies of undetermined etiology, in whom we established a diagnosis of HNPP. Materials and methods – We retrospectively reviewed clinical, electrophysiological and laboratory data for patients diagnosed with HNPP over a 4‐year period at our institution. Results – All patients had transient or recurrent neurological symptoms, some with residual deficits. No patients had a family history of any neuropathy. Electrodiagnostic studies revealed abnormal conduction findings at symptomatic and asymptomatic sites. Testing for the Peripheral Myelin Protein ( PMP22 ) deletion was positive in all patients. Conclusions – A high index of clinical suspicion and thorough electrodiagnostic evaluation can lead to correct diagnosis of HNPP, despite the absence of a positive family history.