Russian Journal of Child NeurologyRussian Journal of Child NeurologyРусский журнал детской неврологии2073-88032412-9178Publishing House ABV Press16710.17650/2073-8803-2016-11-3-49-56CLINICAL OBSERVATIONSКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯRETT SYNDROME: DIFFICULTIES OF DIAGNOSTICS (CLINICAL AND PSYCHOPATHOLOGICAL ASPECTS)Синдром Ретта: трудности диагностики (клинико-психопатологические аспекты)MalininaE. V.МалининаЕ. В.
Russian Federation

64 Vorovskogo St., Chelyabinsk, 454092

454092, Челябинск, ул.  Воровского, 64

ZabozlaevaI. V.ЗабозлаеваИ. В.
Russian Federation

64 Vorovskogo St., Chelyabinsk, 454092

454092, Челябинск, ул.  Воровского, 64

zabazl@mail.ruSouth Ural State Medical Academy, Ministry of Health of RussiaКафедра психиатрии ФГБОУ ВО «Южно-Уральский государственный медицинский университет» Минздрава России1507201611349563011201630112016Copyright ©; 2016, ABV-PressCopyright ©; 2016, АБВ-пресс2016ABV-PressАБВ-прессhttps://rjdn.abvpress.ru/jour/about/editorialPolicieshttps://rjdn.abvpress.ru/jour/article/view/167

Showed a rare case of atypical forms of Rett syndrome in girl adolescent. The peculiarity of the disease was in the late manifestation of clinical symptoms (6 years old), when there was autistic behavior and regression in development, as well as rare stereotypical hand movements, with characteristic changes in the EEG as benign epileptiform patterns of childhood. In adolescence (12 years) there were episodes of hyperventilation and arrest breathing, deformation of the back, inappropriate laughter and screams. Was found mutation in the heterozygous state (s.674>G / N) in the gene MECP2 (exons 1–4) by the method of direct automatic sequencing.

Представлено описание редкого клинического случая атипичной формы синдрома Ретта у девочки-подростка. Особенность заболевания заключалась в позднем дебюте клинических симптомов (в возрасте 6 лет), когда появились аутистическое поведение и регресс в развитии, а также редкие стереотипные движения руками, с характерными изменениями на электроэнцефалограмме в виде доброкачественных эпилептиформных паттернов детства. В подростковом возрасте (в 12 лет) возникли эпизоды гипервентиляции и задержки дыхания, деформация спины, неадекватный смех и пронзительные крики. Методом прямого автоматического секвенирования в гене MECP2 (экзоны 1–4) была выявлена мутация в гетерозиготном состоянии (вариант с.674>G / N).

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