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Russian Journal of Child Neurology

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

https://doi.org/10.17650/2073-8803-2025-20-1-32-38

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
Russian Federation

Maksim S. Maslov.

39 Bondarenko St., Tula 300010



A. M. Sviridova
Tula Children’s Regional Clinical Hospital
Russian Federation

39 Bondarenko St., Tula 300010



M. A. Zalevskaya
Tula Children’s Regional Clinical Hospital
Russian Federation

39 Bondarenko St., Tula 300010



References

1. Demikova N.S., Kakaulina V.S., Pechatnikova N.L. et al. Microcephaly syndrome with capillary malformations. Pediatriya = Pediatrics 2016;95(5);110–4. (In Russ.).

2. Shchugareva L.M., Poteshkina O.V., Shumeeva A.G., Galaktionova S.M. Resistant epilepsy in a child with microcephalic capillary malformation syndrome. Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova = S.S. Korsakov Journal of Neurology and Psychiatry 2020;120(8):110–6. (In Russ.).

3. Carter M., Geraghty M., de la Cruz L. et al. A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies. Am J Med Genet A 2011;155(2):301–6.

4. Carter M.T., Mirzaa G., McDonell L.M., Boycott K.M. Microcephaly-Capillary Malformation Syndrome. In: GeneReviews®. Seattle: University of Washington, 1993–2024.

5. Isidor B., Barbarot S., Bénéteau C. et al. Multiple capillary skin malformations, epilepsy, microcephaly, mental retardation, hypoplasia of the distal phalanges: Report of a new case and further delineation of a new syndrome. Am J Med Genet A 2011;155(6):1458–60.

6. McDonell L.M., Mirzaa G.M., Alcantara D. et al. Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nat Genet 2013;45(5):556–62. DOI: 10.1038/ng.2602

7. Pavlović M., Neubauer D., Al Tawari A., Heberle L. The microcephaly-capillary malformation syndrome in two brothers with novel clinical features. Pediatr Neurol 2014;51(4):560–5.

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

9. STAMPB Gene – STAM Building Protein. The GeneCards Suite: From Gene Data Mining to Disease Genome Sequence Analyses. Available at: hhtp://www.genecards.org/cgi-bin/carddisp.pl?gene=STAMPB.

10. Wang H., Wang Z., Ji T. et al. Novel STAMBP mutations in a Chinese girl with rare symptoms of microcephaly-capillary malformation syndrome and Mowat–Wilson syndrome. Heliyon 2023;9(12):e22989. DOI: 10.1016/j.heliyon.2023.e22989


Review

For citations:


Maslov M.S., Sviridova A.M., Zalevskaya M.A. Early infantile epileptic encephalopathy in the structure of microcephaly-capillary malformation syndrome: a clinical case. Russian Journal of Child Neurology. 2025;20(1):32-38. (In Russ.) https://doi.org/10.17650/2073-8803-2025-20-1-32-38

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ISSN 2073-8803 (Print)
ISSN 2412-9178 (Online)