perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2022-67-6-113-122perinatology-1752Research ArticleВ ПОМОЩЬ ПРАКТИЧЕСКОМУ ВРАЧУGUIDELINES FOR THE PRACTITIONERСложности дифференциальной диагностики синдрома АнгельманаDifficulties in the differential diagnosis of Angelman’s syndromehttps://orcid.org/0000-0001-9286-7805ГорчхановаЗ. К.GorchkhanovaZ. K.

Горчханова Зарета Казбулатовна - к.м.н., врач-невролог отделения психоневрологии №1, ст. науч. сотр. отдела клинической генетики

125412 Москва, ул. Талдомская, д. 2

Moscow

https://orcid.org/0000-0001-7146-7220НиколаеваЕ. А.NikolaevaE. A.

Николаева Екатерина Александровна - д.м.н., рук. отдела клинической генетики

125412 Москва, ул. Талдомская, д. 2

Moscow

https://orcid.org/0000-0002-7520-1072ПивовароваА. М.PivovarovaA. M.

Пивоварова Александра Михайловна - к.м.н., ст. науч. сотр. отдела организации и развития научно-исследовательской и инновационной деятельности

125412 Москва, ул. Талдомская, д. 2

Moscow

БоченковС. В.BochenkovS. V.

Боченков Сергей Викторович - зав. педиатрическим отделением врожденных и наследственных заболеваний

125412 Москва, ул. Талдомская, д. 2

Moscow

https://orcid.org/0000-0003-3594-6974БелоусоваЕ. Д.BelousovaE. D.

Белоусова Елена  Дмитриевна - д.м.н., рук. отдела психоневрологии и эпилептологии

125412 Москва, ул. Талдомская, д. 2

Moscow

ОСП «Научно-исследовательский клинический институт педиатрии и детской хирургии им. академика Ю.Е. Вельтищева» ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава РоссиРоссияVeltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical UniversityRussian Federation202208012023676113122Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20232023Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/1752

Синдром Ангельмана - редкое нейрогенетическое заболевание, вызванное потерей функции материнского аллеля гена UBE3A в хромосоме 15 (участок 15q11.2–q13). Синдром характеризуется тяжелой умственной отсталостью, отсутствием речи, эпилепсией, микроцефалией, особенностями лицевого фенотипа и уникальным поведением в виде частого смеха. Сочетание микроцефалии, эпилепсии, отсутствия речи и умственной отсталости представляет проблему для дифференциальной диагностики с многими генетическими заболеваниями, проявляющимися аналогичной симптоматикой, из них наибольшим сходством обладают эпилептическая энцефалопатия, обусловленная мутацией гена СDKL5, и синдром Ретта. Отличительной чертой синдрома Ангельмана являются приступы смеха и специфические изменения электроэнцефалограммы. Мы представляем таблицу дифференциального диагноза синдрома Ангельмана с некоторыми фенотипически сходными генетическими синдромами с указанием наиболее значимых отличительных признаков, что должно облегчить педиатру и неврологу путь установления правильного диагноза.

Angelman syndrome is a rare neurogenetic disease caused by the loss of the function of the maternal allele of the UBE3A gene on chromosome 15 (site 15q11.2–q13) and is characterized by severe mental retardation, lack of speech, epilepsy, microcephaly and a characteristic facial phenotype with a unique behavior in the form of frequent laughter. The combination of microcephaly, epilepsy, speechlessness and mental retardation poses a problem for differential diagnosis with many genetic diseases presenting with similar symptoms. Epileptic encephalopathy due to CDKL5 gene mutation and Rett syndrome have the greatest similarity. The hallmark of Angelman syndrome are laughter attacks and specific EEG changes. The authors have presented a table of the differential diagnosis of Angelman syndrome with some phenotypically similar genetic syndromes, indicating the most significant distinguishing features, which should facilitate for the pediatrician and neurologist the diagnostic path of establishing the correct diagnosis.

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