Russian Journal of Child NeurologyRussian Journal of Child NeurologyРусский журнал детской неврологии2073-88032412-9178Publishing House ABV Press29610.17650/2073-8803-2019-14-2-35-41CLINICAL OBSERVATIONSКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯA rare case of Cohen syndrome and early infantile epileptic encephalopathy (type 52) in two-year-old girlРедкий клинический случай синдрома Коэна и ранней младенческой эпилептической энцефалопатии (тип 52) у 2-летней девочкиOlshanskayaA. S.ОльшанскаяА. С.
Russian Federation

1 Partizan Zheleznyak St., Krasnoyarsk 660022

Анна Сергеевна Ольшанская

660022 Красноярск, ул. Партизана Железняка, 1

annaolsh@mail.ruDyuzhakovaA. V.ДюжаковаА. В.
Russian Federation

1 Partizan Zheleznyak St., Krasnoyarsk 660022

660022 Красноярск, ул. Партизана Железняка, 1

ShnayderN. A.ШнайдерН. А.
Russian Federation

3, Bekhterev St., Saint Petersburg 192019

192019 Санкт-Петербург, ул. Бехтерева, 3

DmitrenkoD. V.ДмитренкоД. В.
Russian Federation

1 Partizan Zheleznyak St., Krasnoyarsk 660022

660022 Красноярск, ул. Партизана Железняка, 1

Krasnoyarsk State Medical University named after V.F. Voino-Yasenetsky, Ministry of Health of RussiaФГБОУ ВО «Красноярский государственный медицинский университет им. проф. В.Ф. Войно-Ясенецкого» Минздрава РоссииV.M. Bekhterev National Medical Research Centre of Psychiatry and NeurologyФГБУ «Национальный медицинский исследовательский центр психиатрии и неврологии им. В.М. Бехтерева» Минздрава России1504201914235412807201928072019Copyright ©; 2019, ABV-PressCopyright ©; 2019, АБВ-пресс2019ABV-PressАБВ-прессhttps://rjdn.abvpress.ru/jour/about/editorialPolicieshttps://rjdn.abvpress.ru/jour/article/view/296

The authors presented short review of Russian and foreign literature and clinical case of the girl with a rare monogenic disease Cohen syndrome and early infantile epileptic encephalopathy. Problems of differential diagnosis of Cohen syndrome with other neuro-oculocutaneous diseases are analyzed.

Авторами представлены краткий обзор отечественной и зарубежной литературы и клиническое наблюдение девочки с редким моногенным заболеванием – синдромом Коэна и ранней младенческой эпилептической энцефалопатией. Проанализированы проблемы дифференциальной диагностики синдрома Коэна и других нейроокулокожных заболеваний.

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