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 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).

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Publication Details

Journal
Russian Journal of Child Neurology
Published
2025-04-18
DOI
https://doi.org/10.17650/2073-8803-2025-20-1-32-38
Primary Topic
Vascular Malformations Diagnosis and Treatment
Type
article
Field-Weighted Citation Impact
0.00
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article

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

M. S. Maslov, A. M. Sviridova, M. A. Zalevskaya
Russian Journal of Child Neurology
Vascular Malformations Diagnosis and Treatment
article

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

M. S. Maslov, A. M. Sviridova, M. A. Zalevskaya
article en

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).

Russian Journal of Child NeurologyVol. 20(1)
Tula Regional Clinical Hospital (RU)
Openalex Percentile: Top 86%
Vascular Malformations Diagnosis and Treatment
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