neurojourНеврологический журнал имени Л.О. БадалянаL.O. Badalyan Neurological Journal2686-89972712-794XФГАУ «НМИЦ здоровья детей» Минздрава России10.46563/2686-8997-2021-2-1-51-58neurojour-37Research ArticleОБЗОРЫ ЛИТЕРАТУРЫLITERATURE REVIEWSГенетические фенокопии детского церебрального параличаGenetic phenocopies of cerebral palsy: a reviewhttps://orcid.org/0000-0002-6400-6378СеливёрстовЮрий АлександровичSeliverstovYury A.

Канд. мед. наук, невролог, научный сотрудник ФГБНУ НЦН, 125367, Москва.

e-mail: doctor.goody@gmail.com

MD., Ph.D., neurologist and researcher in the Research Center of Neurology, Moscow, 125367, Russian Federation.

e-mail: doctor.goody@gmail.com

doctor.goody@gmail.comhttps://orcid.org/0000-0002-0980-2638ШарковА. А.SharkovArtem A.noemail@neicon.ruФГБНУ «Научный центр неврологии»РоссияResearch Center of NeurologyRussian FederationОСП «Научно-исследовательский клинический институт педиатрии имени академика Ю.Е. Вельтищева» ФГАОУ ВО «Российский научно-исследовательский медицинский университет им. Н.И. Пирогова»; Медико-генетический центр «Геномед»РоссияVeltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University; Genomed LtdRussian Federation202101042021215158Copyright © ФГАУ «НМИЦ здоровья детей» Минздрава России, 20212021ФГАУ «НМИЦ здоровья детей» Минздрава РоссииФГАУ «НМИЦ здоровья детей» Минздрава Россииhttps://www.neuro-journal.ru/jour/about/submissions#copyrightNoticehttps://www.neuro-journal.ru/jour/article/view/37

Детский церебральный паралич (ДЦП) представляет собой гетерогенную группу непрогрессирующих нарушений моторного развития и контроля позы вследствие воздействия различных повреждающих факторов на головной мозг плода или новорождённого. Несмотря на большую изученность факторов риска развития ДЦП, у значительной части пациентов выявить их не удаётся, а нейровизуализационные признаки структурного поражения головного мозга могут отсутствовать. В эту категорию могут попадать дети с недиагностированными генетически обусловленными заболеваниями, являющимися фенокопиями ДЦП.

В обзоре литературы кратко освещены современные взгляды на этиологическую структуру и патофизиологию ДЦП. Описаны основные нейровизуализационные находки при различных подтипах этой группы нарушений. Рассмотрена роль различных генетических причин в развитии фенокопий ДЦП. Кратко охарактеризованы группы генетически обусловленных заболеваний и ряд отдельных нозологических форм, клиническая картина которых может напоминать ДЦП. Перечислены клинические и нейровизуализационные «красные флаги», выявление которых может быть основанием для исключения генетических заболеваний. Показана роль современных методов генетического тестирования, включая высокопроизводительное секвенирование, в своевременной диагностике генетических фенокопий ДЦП. В обзоре резюмированы общие диагностические подходы при подозрении на генетическую природу синдрома ДЦП. Отмечена важность своевременного выявления генетически обусловленных нарушений, скрывающихся под маской ДЦП, в связи с потенциальным влиянием их на индивидуальный и семейный прогноз, а также на тактику ведения пациента.

Cerebral palsy (CP) represents a heterogeneous group of non-progressive disorders of motor development and posture control, leading to activity limitation due to disturbances in a fetal or infant’s developing brain. In CP, motor impairment is often accompanied by disturbances of sensation, cognition, communication, perception, and (or) behavior, and (or) by a seizure disorder. Despite profound knowledge of the CP risk factors, in many patients, the latter cannot be identified, and the neuroimaging features of the brain injury may also be absent. Those patients, at least in part, can include children with undiagnosed genetic phenocopies of the CP.

Literature search was performed using Scopus, Web of Science, PubMed (MEDLINE), and eLibrary databases. In the review, we briefly touch upon the current understanding of CP’s risk factors and pathophysiology. Common neuroimaging findings typical for CP subtypes are presented. We then discuss the role of genetic factors that can lead to the development of CP phenocopies, briefly describing their phenotypic subtypes and some of the specific diseases. Clinical and neuroimaging «red flags» that can prompt a diagnostic search for genetic disorders are reviewed. The role of modern genetic testing techniques, including high-throughput sequencing, in diagnosing CP phenocopies is described. We present a general diagnostic approach to suspected genetic CP phenocopies. Early identification of the pediatric population’s genetic conditions can affect the individual and family prognosis and the patient’s management.

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