vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v16i4.1780vsp-1793Research ArticleКЛИНИЧЕСКОЕ НАБЛЮДЕНИЕCLINICAL OBSERVATIONSАУТОСОМНО-РЕЦЕССИВНАЯ ПЕРИФЕРИЧЕСКАЯ НЕЙРОПАТИЯ С НЕЙРОМИОТОНИЕЙ (ARAN-NM): ОПИСАНИЕ КЛИНИЧЕСКОГО СЛУЧАЯ, ПОДТВЕРЖДЕННОГО МУТАЦИЕЙ В ГЕНЕ HINT1AUTOSOMAL RECESSIVE PERIPHERAL NEUROPATHY WITH NEUROMYOTONIA (ARAN-NM): DESCRIPTION OF A CLINICAL CASE CONFIRMED BY A MUTATION IN THE HINT1 GENEhttps://orcid.org/0000-0002-4079-3450КлочковаО. А.KlochkovaOlga A.

Куренков Алексей Львович - доктор медицинских наук, ведущий научный сотрудник, врач-невролог отделения психоневрологии и психосоматической патологии НМИЦ здоровья детей.

Moscow

alkurenkov@gmail.comhttps://orcid.org/0000-0002-7269-9100КуренковА. Л.KurenkovAlexey L.

Москва

Moscow

https://orcid.org/0000-0001-6614-6115ЖурковаН. В.ZhurkovaNatalya V.

Москва

Moscow

https://orcid.org/0000-0003-4885-4171СавостьяновК. В.SavostyanovKirill V.

Москва

Moscow

https://orcid.org/0000-0003-1423-0379ЖанинИ. С.ZhaninIlya S.

Москва

Moscow

https://orcid.org/0000-0003-0818-6906МамедьяровА. М.MamedyarovAyaz M.

Москва

Moscow

https://orcid.org/0000-0002-5875-568XТардоваИ. М.TardovaIlona M.

Москва

Moscow

Национальный медицинский исследовательский центр здоровья детейРоссияNational Medical Research Center of Children’s HealthRussian Federation201727092017164326333Copyright © Клочкова О.А., Куренков А.Л., Журкова Н.В., Савостьянов К.В., Жанин И.С., Мамедьяров А.М., Тардова И.М., 20172017Клочкова О.А., Куренков А.Л., Журкова Н.В., Савостьянов К.В., Жанин И.С., Мамедьяров А.М., Тардова И.М.Klochkova O.A., Kurenkov A.L., Zhurkova N.V., Savostyanov K.V., Zhanin I.S., Mamedyarov A.M., Tardova I.M.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vsp.spr-journal.ru/jour/article/view/1793

Аутосомно-рецессивная периферическая нейропатия с нейромиотонией (ARAN-NM) — сравнительно недавно описанное заболевание, ассоциированное с мутациями в гене HINT1. На его долю приходится значимая часть плохо дифференцируемых форм аксональных полинейропатий. Представляем  первое в России описание генетически подтвержденного случая ARAN-NM у мальчика 14 лет  11 мес без отягощенного наследственного  анамнеза. При обращении у пациента наблюдались прогрессирующая дистальная мышечная слабость, асимметричная деформация стоп, нарушения походки и минимальные проявления нейромиотонии (скованность в пальцах рук). При обследовании выявлены повышение уровня креатинфосфокиназы  до 635 Ед/л, нарушение проведения по моторным и, в меньшей степени, сенсорным волокнам периферических нервов (по данным стимуляционной электромиографии, ЭМГ), денервационнореиннервационные изменения, единичные положительные острые волны, потенциалы  фибрилляций,  комплексный повторяющийся разряд (по данным игольчатой  ЭМГ). При исследовании  экзома определена  гомозиготная  мутация c.110G>C, p.R37P в экзоне 01 гена HINT1, подтвердившая наличие ARAN-NM. Проведено молекулярно-генетическое обследование ближайших родственников пациента. Описанный случай сопоставлен с данными литературы, приведен обзор имеющихся в настоящее время сведений об ARAN-NM. Представлены диагностические критерии заболевания. 

Autosomal recessive  peripheral neuropathy with neuromyotonia  (ARAN-NM)  is a relatively newly described  disease associated  with mutations  in the HINT1 gene.  It accounts  for a significant  part of the poorly  differentiated  forms  of axonal polyneuropathies.  We present the first in Russia description of the genetically confirmed case of ARAN-NM in a boy aged 14 years and 11 months without the hereditary-tainted anamnesis. On presentation,  the patient experienced  progressive  distal muscular weakness, asymmetric foot deformity,  gait disorders  and minimal manifestations  of neuromyotonia  (stiffness  in the fingers).  During examination,  we detected an increase in the level of creatine phosphokinase up to 635 U/l, a disturbance of conduction of motor and, to a lesser extent, sensory fibers  of  the  peripheral  nerves  (according  to  the  stimulation  electromyography,  EMG),  denervation-reinnervation  changes,  single positive acute waves, fibrillation potentials, complex repeated discharge (according to the data of needle EMG). In the study of exome, a homozygous mutation c.110G>C, p.R37P was determined in exon 01 of the HINT1 gene, which confirmed the presence of ARAN-NM. A molecular-genetic  examination of the patient's immediate relatives was carried out. The described case is compared with literature data. An overview of currently available information on ARAN-NM is provided. Diagnostic criteria of the disease are presented.

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