Russian Journal of Child NeurologyRussian Journal of Child NeurologyРусский журнал детской неврологии2073-88032412-9178Publishing House ABV Press29710.17650/2073-8803-2019-14-2-42-48CLINICAL OBSERVATIONSКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯPitt–Hopkins syndrome with electrical status epilepticus in slow-wave sleep: a case reportСиндром Питта–Хопкинса с синдромом электрического эпилептического статуса в фазу медленного сна: клинический случайLyukshinaN. G.ЛюкшинаН. Г.
Russian Federation

43 Leningradskaya St., Tolyatti 445020

Наталья Геннадьевна Люкшина

445020 Тольятти, ул. Ленинградская, 43

neurologist@yandex.ruMIDEAL LLCООО «МИДЕАЛ»1504201914242482807201928072019Copyright ©; 2019, ABV-PressCopyright ©; 2019, АБВ-пресс2019ABV-PressАБВ-прессhttps://rjdn.abvpress.ru/jour/about/editorialPolicieshttps://rjdn.abvpress.ru/jour/article/view/297

Pitt–Hoppkins syndrome is rare genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. The syndrome is characterized by specific facial dysmorphism, phychomotor delay, autistic behavior and intellectual disability. Other associated features include ealy-onset myopia, seizures, constipation and hyperventilation-apneic spells. We introduced a clinical case of the patient with molecularly confirmed TCF4 variant and previously undescribed combination with syndrome of the electrical status epilepticus during sleep.

Синдром Питта–Хопкинса – редкое генетическое заболевание, причиной которого является молекулярный вариант гена TCF4, вовлеченного в эмбриологическую дифференциацию нейронов. Синдром характеризуется специфическим лицевым дисморфизмом, задержкой психомоторного развития, аутистическим поведением и интеллектуальными нарушениями. К другим ассоциированным с этим заболеванием признакам относятся ранняя миопия, судороги, запоры, а также эпизоды гипервентиляции и апноэ. Авторами представлен клинический случай пациентки с молекулярно подтвержденным вариантом TCF4. Особенностью данного случая является ранее неописанное сочетание синдрома Питта–Хопкинса с синдромом электрического эпилептического статуса в фазу медленного сна.

developmental delayautismintellectual disabilityepilepsygeneticsophthalmologybehaviorзадержка развитияаутизминтеллектуальные нарушенияэпилепсиягенетикаофтальмологияповедение1. Amiel J., Rio M., de Pontual L. et al. Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt–Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet 2007;80(5):988–993. DOI: 10.1086/515582.Amiel J., Rio M., de Pontual L. et al. Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt–Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet 2007;80(5):988–993. DOI: 10.1086/515582.2. Andrieux J., Lepretre F., Cuisset J.M. et al. Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array. Eur J Med Genet 2008;51(2):172–7. DOI: 10.1016/j.ejmg.2007.12.002.Andrieux J., Lepretre F., Cuisset J.M. et al. 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