The case of development and epileptic encephalopathy with spike-wave activation in sleep in a boy with Smith–Magenis syndrome
https://doi.org/10.17650/2073-8803-2024-19-3-68-77
Abstract
A brief literature review of the rare genetic Smith–Magenis syndrome, which is manifested by mental retardation, dyssomnia, and specific behavioral disorders, is presented. Epilepsy occurs in approximately 50 % of patients. A description of long-term follow-up of a patient with this syndrome and epilepsy in the form of development and epileptic encephalopathy with spike-wave activation in sleep is given. Epilepsy onset was at the age of 5 years with focal, bilateral tonic-clonic seizures and status epilepticus. On the electroencephalogram of nocturnal sleep, spike-wave activity was detected in the centrotemporal regions on both hemispheres, with an index of up to 100 %. The patient was able to choose antiepileptic therapy, a long-term remission was achieved, the seizures were stopped.
About the Authors
M. Yu. BobylovaRussian Federation
5, 8 Nagornaya St., Troitsk, Moscow 108842
9 Akad. Anokhina St., Moscow 119571
M. O. Аbramov
Russian Federation
9 Akad. Anokhina St., Moscow 119571
O. A. Pylaeva
Russian Federation
5, 8 Nagornaya St., Troitsk, Moscow 108842
9 Akad. Anokhina St., Moscow 119571
K. Yu. Мukhin
Russian Federation
5, 8 Nagornaya St., Troitsk, Moscow 108842
9 Akad. Anokhina St., Moscow 119571
A. S. Petrukhin
Russian Federation
1 Ostrovityanova St., Moscow 117997
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Review
For citations:
Bobylova M.Yu., Аbramov M.O., Pylaeva O.A., Мukhin K.Yu., Petrukhin A.S. The case of development and epileptic encephalopathy with spike-wave activation in sleep in a boy with Smith–Magenis syndrome. Russian Journal of Child Neurology. 2024;19(3):68-77. (In Russ.) https://doi.org/10.17650/2073-8803-2024-19-3-68-77