title: Hereditary neuropathy with liability to pressure palsies presenting with sciatic neuropathy.
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.affiliation: Department of Neurology, Klinikum Wels-Grieskirchen, Wels, Austria.
authors.forename: Raffi
authors.initials: R
authors.lastname: Topakian
authors.affiliation: Institute of Radiology, Wagner-Jauregg Hospital, Linz, Austria.
authors.forename: Sibylle
authors.initials: S
authors.lastname: Wimmer
authors.affiliation: Department of Neurology, Wagner-Jauregg Hospital, Linz, Austria.
authors.forename: Barbara
authors.initials: B
authors.lastname: Pischinger
authors.affiliation: Institute of Nuclear Medicine, Academic Teaching Hospital Wagner-Jauregg, Linz, Austria.
authors.forename: Robert
authors.initials: R
authors.lastname: Pichler
mesh_terms: D000328:Adult; D001176:Arthrogryposis / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D002872:Chromosome Deletion; D003937:Diagnosis, Differential; D004599:Electric Stimulation Therapy / Q000379:methods; D005500:Follow-Up Studies; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D006801:Humans; D008297:Male; D009408:Nerve Compression Syndromes / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D010243:Paralysis / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D026741:Physical Therapy Modalities; D011312:Pressure; D020426:Sciatic Neuropathy / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D055815:Young Adult