Open AccessHereditary neuropathy with liability to pressure palsies: a case report
Author(s) -
A. K. Polynnikova,
O. E. Zinovyeva,
О. А. Солоха,
E. V. Misyuryaeva
Publication year - 2021
Publication title -
nevrologiâ, nejropsihiatriâ, psihosomatika
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.157
H-Index - 9
eISSN - 2310-1342
pISSN - 2074-2711
DOI - 10.14412/2074-2711-2021-4-116-122
Subject(s) - peripheral myelin protein 22 , medicine , weakness , peripheral neuropathy , disease , pediatrics , myelin , surgery , pathology , endocrinology , central nervous system , diabetes mellitus
Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare hereditary disorder characterized by recurrent episodes of nerve compression. The first attack usually occurs in the second or third decade of life. In the majority of cases, HNPP is associated with a mutation at chromosome 17 p11.2-12 comprising the gene encoding peripheral myelin protein 22 (PMP22). Here we present a case report of a 43-year-old male with HNPP confirmed by DNA testing. The patient complained of recurrent episodes of bilateral foot extensor muscles weakness and/or hyperesthesia on the outer surface of the hands and forearms, which started after a prolonged posture maintaining and without evident precipitating factors. We also describe typical clinical, electrophysiological, and nerve ultrasound characteristics of the disease.