Early infantile epileptic encephalopathy in the structure of microcephaly-capillary malformation syndrome: a clinical case

The article presents a clinical case of early infantile epileptic encephalopathy diagnosed in a child with a confirmed genetic study of microcephaly-capillary malformation syndrome. The extremely rare occurrence of this syndrome, as well as the small amount of information devoted to the problem of e...

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Bibliographic Details
Main Authors: M. S. Maslov, A. M. Sviridova, M. A. Zalevskaya
Format: Article
Language:Russian
Published: ABV-press 2025-04-01
Series:Русский журнал детской неврологии
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Online Access:https://rjdn.abvpress.ru/jour/article/view/510
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Summary:The article presents a clinical case of early infantile epileptic encephalopathy diagnosed in a child with a confirmed genetic study of microcephaly-capillary malformation syndrome. The extremely rare occurrence of this syndrome, as well as the small amount of information devoted to the problem of epilepsy in this syndrome, make the presented clinical case relevant and useful for pediatric specialists (neurologists, geneticists, pediatricians). In addition, the article presents the experience of using hormone therapy in the treatment of epilepsy, which also had an effect on the main manifestation of the disease (capillary malformations).
ISSN:2073-8803
2412-9178