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Hereditary neuropathy with liability to pressure palsies presenting with sciatic neuropathy.
BMJ Case Rep. 2014 Oct 17; 2014BC

Abstract

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-dominant disorder associated with recurrent mononeuropathies following compression or trivial trauma. Reports on sciatic neuropathy as the presenting manifestation of HNPP are very scarce. We report on a 21-year-old previously healthy man who was admitted with sensorimotor deficits in his left leg. He had no history of preceding transient episodes of weakness or sensory loss. Clinical and electrophysiological examinations were consistent with sciatic neuropathy. Cerebrospinal fluid investigation and MRI of the nerve roots, plexus, and sciatic nerve did not indicate the underlying aetiology. When extended electrophysiological tests revealed multiple subclinical compression neuropathies in the upper limbs, HNPP was contemplated and eventually confirmed by genetic testing.

Authors+Show Affiliations

Department of Neurology, Klinikum Wels-Grieskirchen, Wels, Austria.Institute of Radiology, Wagner-Jauregg Hospital, Linz, Austria.Department of Neurology, Wagner-Jauregg Hospital, Linz, Austria.Institute of Nuclear Medicine, Academic Teaching Hospital Wagner-Jauregg, Linz, Austria.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

25326571

Citation

Topakian, Raffi, et al. "Hereditary Neuropathy With Liability to Pressure Palsies Presenting With Sciatic Neuropathy." BMJ Case Reports, vol. 2014, 2014.
Topakian R, Wimmer S, Pischinger B, et al. Hereditary neuropathy with liability to pressure palsies presenting with sciatic neuropathy. BMJ Case Rep. 2014;2014.
Topakian, R., Wimmer, S., Pischinger, B., & Pichler, R. (2014). Hereditary neuropathy with liability to pressure palsies presenting with sciatic neuropathy. BMJ Case Reports, 2014. https://doi.org/10.1136/bcr-2014-206883
Topakian R, et al. Hereditary Neuropathy With Liability to Pressure Palsies Presenting With Sciatic Neuropathy. BMJ Case Rep. 2014 Oct 17;2014 PubMed PMID: 25326571.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hereditary neuropathy with liability to pressure palsies presenting with sciatic neuropathy. AU - Topakian,Raffi, AU - Wimmer,Sibylle, AU - Pischinger,Barbara, AU - Pichler,Robert, Y1 - 2014/10/17/ PY - 2014/10/19/entrez PY - 2014/10/19/pubmed PY - 2015/7/15/medline JF - BMJ case reports JO - BMJ Case Rep VL - 2014 N2 - Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-dominant disorder associated with recurrent mononeuropathies following compression or trivial trauma. Reports on sciatic neuropathy as the presenting manifestation of HNPP are very scarce. We report on a 21-year-old previously healthy man who was admitted with sensorimotor deficits in his left leg. He had no history of preceding transient episodes of weakness or sensory loss. Clinical and electrophysiological examinations were consistent with sciatic neuropathy. Cerebrospinal fluid investigation and MRI of the nerve roots, plexus, and sciatic nerve did not indicate the underlying aetiology. When extended electrophysiological tests revealed multiple subclinical compression neuropathies in the upper limbs, HNPP was contemplated and eventually confirmed by genetic testing. SN - 1757-790X UR - https://www.unboundmedicine.com/medline/citation/25326571/Hereditary_neuropathy_with_liability_to_pressure_palsies_presenting_with_sciatic_neuropathy_ L2 - https://casereports.bmj.com/lookup/pmidlookup?view=long&pmid=25326571 DB - PRIME DP - Unbound Medicine ER -