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

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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).

About the authors

M. S. Maslov

Tula Children’s Regional Clinical Hospital

Author for correspondence.
Email: sir.mistermax@yandex.ru
ORCID iD: 0009-0009-9061-5319

Maksim S. Maslov.

39 Bondarenko St., Tula 300010

Russian Federation

A. M. Sviridova

Tula Children’s Regional Clinical Hospital

Email: fake@neicon.ru
ORCID iD: 0009-0002-7611-6280

39 Bondarenko St., Tula 300010

Russian Federation

M. A. Zalevskaya

Tula Children’s Regional Clinical Hospital

Email: fake@neicon.ru
ORCID iD: 0009-0007-5934-8705

39 Bondarenko St., Tula 300010

Russian Federation

References

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  8. Postma J.K., Zambonin J.L., Khouj E. et al. Further clinical delineation of microcephaly-capillary malformation syndrome. Am J Med Genet A 2022;188A:3350–7. doi: 10.1002/ajmg.a.62936
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СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).
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