medalphabetМедицинский алфавитMedical alphabet2078-56312949-2807ООО «Альфмед»10.33667/2078-5631-2026-2-37-41medalphabet-5030Research ArticleСтатьиНаследственная невропатия со склонностью к параличам от сдавления: обзор литературы и описание клинического случаяHereditary neuropathy with liability to pressure palsies: literature review and clinical case reporthttps://orcid.org/0000-0003-4411-7051ДевликамоваФ. И.DevlikamovaF. I.

Девликамова Фарида Ильдусовна, д. м. н., профессор кафедры неврологии

Казань

Devlikamova Farida I., Dr Med Sci (habil.), professor at Dept of Neurology

Kazan

fdevlikamova@mail.ruhttps://orcid.org/0000-0002-6466-4979СафинаД. Р.SafinaD. R.

Сафина Диана Рустэмовна, к. м. н., доцент кафедры неврологии с курсами психиатрии, клинической психологии и медицинской генетики

Казань

Safina Diana R., PhD Med Sci, associate professor at Dept of Neurology with Courses in Psychiatry, Clinical Psychology, and Medical Genetics

Kazan

КГМА – филиал ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава РоссииРоссияKazan State Medical Academy – branch of Russian medical Academy of continuing professional educationRussian FederationИнститут фундаментальной медицины и биологии ФГАОУ ВО «Казанский федеральный университет»РоссияInstitute of Fundamental Medicine and Biology at Kazan Federal UniversityRussian Federation20261305202602Неврология и психиатрия (1)3741Copyright © Девликамова Ф.И., Сафина Д.Р., 20262026Девликамова Ф.И., Сафина Д.Р.Devlikamova F.I., Safina D.R.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.med-alphabet.com/jour/article/view/5030

Наследственная невропатия со склонностью к параличам от сдавления – редкая форма аутосомно-доминантной наследственной периферической невропатии. Проведен обзор литературы по данному заболеванию с изложением типичных изменений по данным семейного анамнеза, клинической картине, стимуляционной электромиографии, ультразвуковому исследованию нервов и генетическому обследованию, а также динамика заболевания и тактика ведения пациентов. Представлен клинический случай наследственной невропатии со склонностью к параличам от сдавления у мужчины 21 года с проспективным отслеживанием изменений через 9 месяцев. Ультразвуковое исследование нервов продемонстрировало себя одним из опорных методов диагностики наследственной невропатии со склонностью к параличам от сдавления наряду со стимуляционной электромиографией. Выявление двух и более безболевых туннельных синдромов (в том числе по данным стимуляционной электромиографии и ультразвукового исследования) у пациентов молодого возраста может служить показанием для назначения анализа на ген PMP22, а при его обнаружении – семейное генетическое обследование.

Hereditary neuropathy with a tendency to pressure palsies is a rare form of autosomal dominant hereditary peripheral neuropathy. This article reviews this disease literature. Typical changes based on family history, clinical presentation, stimulation electromyography, nerve ultrasound and genetic testing along with the disease progression and patient management strategies are presented. This article presents clinical case of hereditary neuropathy with a tendency to pressure palsies in a 21-year-old man with 9 months prospective follow-up. Nerve ultrasound, along with stimulation electromyography, has proven to be a key diagnostic method for hereditary neuropathy with a tendency to pressure palsies. The detection of two or more painless tunnel syndromes (including those detected by stimulation electromyography and ultrasound) in young patients may prompt testing for the PMP22 gene, and if detected, family genetic testing.

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