Брой 4/2025, Статии

Два клинични случая на синдром на Pitt-Hopkins

Публикувана на от admin

Т. Александрова1, Т. Делчев1, 2, Ц. Велева1, 2, Д. Авджиева-Тзавелла1, 2

1Клиника за лечение на деца с генетични заболявания, СБАЛДБ „Проф. Иван Митев“ – София 2Медицински университет – София

Резюме

Синдромът на Pitt-Hopkins е рядко генетично заболяване, характеризиращо се с тежко забавяне в психомоторното развитие с умерено до тежко интелектуално изоставане, дълбоко ограничена или напълно липсваща реч, характерен лицев дисморфизъм, поведенчески отклонения, дисрегулация на автономната нервна система. Най-често се причинява от de novo варианти и делеции в TCF4 гена. Клиничната диагноза нерядко е предизвикателство за лекуващия екип поради фенотипното припокриване със синдрома на Angelman, както и Angelman-like синдромите. Диагнозата се потвърждава чрез молекулярно-генетичен анализ. Към момента няма дефинитивно лечение. Представяме два генетично верифицирани случая от нашата практика с типичен фенотип и клинична изява за синдрома на Pitt-Hopkins.

Ключови думи: синдром на Pitt-Hopkins, PTHS, TCF4, Angelman-like синдром

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Библиография

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Адрес за кореспонденция:

Т. Александрова

Kлиника за лечение на деца с генетични заболявания

СБАЛДБ „Проф. Иван Митев“

София

България

е-mail: teodora.aleksandrova14@gmail.com