Медицинская литература. Новинки

 

 

 

 

 

 

Мультидисциплинарные аспекты диагностики туберозного склероза (два клинических наблюдения)

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В статье описаны два наблюдения редкого генетического заболевания - туберозного склероза, в одном из которых он был диагностирован в зрелом возрасте у пациентки с эписиндромом в анамнезе, в другом у 11-летней пациентки с впервые выявленными судорожными приступами, имеющей в анамнезе рабдомиому сердца. Комплексное использование методов лучевой диагностики в условиях многопрофильной клиники позволило в короткие сроки установить диагноз, оценить состояние внутренних органов и определиться с дальнейшей тактикой лечения и наблюдения.

Ключевые слова:
туберозный склероз, болезнь Бурневилля, корковые туберы, компьютерная томография, магнитно-резонансная томография, эпилепсия, tuberous sclerosis, bourneville disease, cortical tubers, CT scan, magnetic resonance imaging, epilepsy

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Multidisciplinary aspects of the diagnosis of tuberous sclerosis (two clinical observation)

The article describes two cases of quite rare genetic disease, tuberous sclerosis, one of which was diagnosed as early as in adulthood in a patient with a history of episindrom, the other was diagnosed at the age of eleven in a patient with newly diagnosed seizures, having a history of heart rhabdomyoma. Complex use of radiological methods in the conditions of our clinic allowed to establish in short terms the diagnosis, to estimate a condition of internal organs and also to decide on further tactics of treatment and supervision of patients.

Keywords:
туберозный склероз, болезнь Бурневилля, корковые туберы, компьютерная томография, магнитно-резонансная томография, эпилепсия, tuberous sclerosis, bourneville disease, cortical tubers, CT scan, magnetic resonance imaging, epilepsy