Work

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

Year: 2025

Type: article

Abstract: 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).

Source: Russian Journal of Child Neurology

DOI: 10.17650/2073-8803-2025-20-1-32-38

Authors: M. S. Maslov, A. M. Sviridova, M. A. Zalevskaya

Institution: Tula Regional Clinical Hospital

Language: English

Topic: Epilepsy research and treatment

Subfield: Psychiatry and Mental health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4409626329

FWCI:

Cites: 7

Cited by:

Related to: 10