nnpNeurology, Neuropsychiatry, PsychosomaticsНеврология, нейропсихиатрия, психосоматика2074-27112310-1342"IMA-Press", LLC10.14412/2074-2711-2021-4-116-122nnp-1625Research ArticleCLINICAL OBSERVATONSКЛИНИЧЕСКОЕ НАБЛЮДЕНИЕHereditary neuropathy with liability to pressure palsies: a case reportКлиническое наблюдение случая наследственной невропатии со склонностью к параличам от сдавленияПолынниковаА. К.PolynnikovaA. K.

Полынникова Анастасия Константиновна.

119021, Москва, ул. Россолимо, 11, стр. 1.

Anastasia Konstantinovna Polynnikova.

11, Rossolimo St., Build. 1, Moscow 119021.

polynnikova94@mail.ruЗиновьеваО. Е.ZinovyevaO. E.

119021, Москва, ул. Россолимо, 11, стр. 1.

11, Rossolimo St., Build. 1, Moscow 119021.

СолохаО. А.SolokhaO. A.

119021, Москва, ул. Россолимо, 11, стр. 1.

11, Rossolimo St., Build. 1, Moscow 119021.

МисюряеваЕ. В.MisyuryaevaE. V.

119021, Москва, ул. Россолимо, 11, стр. 1.

11, Rossolimo St., Build. 1, Moscow 119021.

Кафедра нервных болезней и нейрохирургии Института клинической медицины им. Н.В. СклифософскогоРоссияDepartment of Nervous System Diseases and Neurosurgery, N.V. Sklifosovsky Institute of Clinical MedicineRussian FederationКафедра нервных болезней и нейрохирургии Института клинической медицины им. Н.В. Склифософского; Клиника нервных болезней им. А.Я. Кожевникова, Первый Московский государственный медицинский университет им. И.М. Сеченова Минздрава России (Сеченовский Университет)РоссияDepartment of Nervous System Diseases and Neurosurgery, N.V. Sklifosovsky Institute of Clinical Medicine; A.Ya. Kozhevnikov Clinic of Nervous System Diseases, I.M.Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of RussiaRussian FederationКлиника нервных болезней им. А.Я. Кожевникова ФГАОУ ВО «Первый Московский государственный медицинский университет им. И.М. Сеченова» Минздрава России (Сеченовский Университет)РоссияA.Ya. Kozhevnikov Clinic of Nervous System Diseases, I.M.Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of RussiaRussian Federation202114082021134116122Copyright © Polynnikova A.K., Zinovyeva O.E., Solokha O.A., Misyuryaeva E.V., 20212021Полынникова А.К., Зиновьева О.Е., Солоха О.А., Мисюряева Е.В.Polynnikova A.K., Zinovyeva O.E., Solokha O.A., Misyuryaeva E.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://nnp.ima-press.net/nnp/article/view/1625

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.

Наследственная невропатия со склонностью к параличам от сдавления (ННСПС) — редкое наследственное заболевание, дебютирующее на втором-третьем десятилетии жизни и характеризующееся повторяющимися эпизодами компрессионных невропатий. В большинстве случаев развитие ННСПС обусловлено повреждением гена в области хромосомы 17 р11.2-12, кодирующего синтез белка периферического миелина 22 (peripheral myelin protein 22, PMP22). Представлено клиническое наблюдение пациента 43 лет с ННСПС, подтвержденной результатами молекулярно-генетического исследования. Заболевание проявлялось рецидивирующими эпизодами слабости разгибателей стоп и/или гипестезией по наружной поверхности кистей и предплечий, которые возникали вследствие длительного удержания фиксированной позы, а также без очевидного провоцирующего фактора. Описаны характерные клинические, электрофизиологические, нейросонографические проявления болезни.

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The authors declare that there are no conflicts of interest present.