Эпилепсия и пароксизмальные состояния (Jul 2024)

Atypical course of severe myoclonic epilepsy of infancy (Dravet syndrome)

  • B. A. Abusueva,
  • M. D. Shanavazova,
  • М. A. Askevova,
  • V. S. Khalilov,
  • M. Yu. Bobylova

DOI
https://doi.org/10.17749/2077-8333/epi.par.con.2024.180
Journal volume & issue
Vol. 16, no. 2
pp. 130 – 136

Abstract

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A clinical observation of a patient with Dravet syndrome caused by SCN1A gene mutation is presented. Dravet syndrome is a severe epileptic encephalopathy that occurs in early childhood, accompanied by seizure polymorphism, drug-resistant course and severe cognitive impairment. The current clinical case confirms the opportunity for drug controlled course of Dravet syndrome. A two-year remission was achieved using polytherapy with antiepileptic drugs. Currently, a complete remission during duotherapy with topiramate in combination with levetiracetam is sustained. The described clinical case also demonstrates preservation of cognitive functions: the child successfully acquires full general education program. It should be noted that upon early relief of epileptic seizures, no cognitive functions become affected.

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