The case of development and epileptic encephalopathy with spike-wave activation in sleep in a boy with Smith–Magenis syndrome

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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. Bobylova

Svt. Luka’s Institute of Child Neurology and Epilepsy; Svt. Luka’s Institute of Pediatric and Adult Neurology and Epilepsy

Author for correspondence.
Email: mariya_bobylova@mail.ru
ORCID iD: 0000-0001-6125-0618

5, 8 Nagornaya St., Troitsk, Moscow 108842

9 Akad. Anokhina St., Moscow 119571

Russian Federation

M. O. Аbramov

Svt. Luka’s Institute of Pediatric and Adult Neurology and Epilepsy

Email: fake@neicon.ru

9 Akad. Anokhina St., Moscow 119571

Russian Federation

O. A. Pylaeva

Svt. Luka’s Institute of Child Neurology and Epilepsy; Svt. Luka’s Institute of Pediatric and Adult Neurology and Epilepsy

Email: fake@neicon.ru

5, 8 Nagornaya St., Troitsk, Moscow 108842

9 Akad. Anokhina St., Moscow 119571

Russian Federation

K. Yu. Мukhin

Svt. Luka’s Institute of Child Neurology and Epilepsy; Svt. Luka’s Institute of Pediatric and Adult Neurology and Epilepsy

Email: fake@neicon.ru
ORCID iD: 0000-0001-8855-7740

5, 8 Nagornaya St., Troitsk, Moscow 108842

9 Akad. Anokhina St., Moscow 119571

Russian Federation

A. S. Petrukhin

Department of Neurology, Neurosurgery and Medical Genetics of the Faculty of Medicine, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: fake@neicon.ru

1 Ostrovityanova St., Moscow 117997

Russian Federation

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