Epilepsy in de Vivo syndrome: a literature review and a clinical case
M. B. Mironov,
N. I. Andreeva,
D. S. Fomchenkova, 
N. V. Chebanenko,
Yu. V. Rubleva,
T. M. Krasilshchikova,
S. G. Burd
N. V. Chebanenko,
Yu. V. Rubleva,
T. M. Krasilshchikova,
S. G. Burd https://doi.org/10.17749/2077-8333.2019.11.3.270-277
Abstract
GLUT 1 transporter deficiency syndrome (De Vivo syndrome, GLUT 1 deficiency syndrome, De Vivo Disease) is a rare genetic disease associated with a deficiency of the glucose transporter GLUT 1. Due to this deficiency, diffusion of glucose through the blood-brain barrier is limited or completely blocked. As a result, a clinical symptom complex of neurological disorders – epileptic seizures, cognitive deficit, and motor disorders – develops. The article provides a review of the literature on the variety of epilepsy manifestations in this syndrome, including idiopathic generalized epilepsy with absences, myoclonic-astatic epilepsy, and focal epilepsy. The inability of the basic antiepileptic therapy to stop the seizures is noted. The main treatment method is the ketogenic diet. A clinical observation made by these authors is also presented.
About the Authors
M. B. Mironov
Federal Center for Cerebrovascular Pathology and Stroke;
Medical Center for Pediatric Neurology and Pediatrics
Russian Federation
Russian Federation
MD, PhD, Head of the Laboratory of Video-EEG Monitoring,
1-10 Ostrovityanova Str., Moscow 117997;
13/32 Andropov Avenue, Moscow 101100
N. I. Andreeva
Medical Center for Pediatric Neurology and Pediatrics
Russian Federation
Russian Federation
MD, Neurologist,
13/32 Andropov Avenue, Moscow 101100
D. S. Fomchenkova
Pirogov Russian National Research Medical University, Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
6th year Medical Student,
1 Ostrovityanova Str., Moscow 117997
N. V. Chebanenko
Russian Medical Academy of Postgraduate Education
Russian Federation
Russian Federation
MD, PhD, Head of the Department of General Psychoneurology,
2/1-1 Barrikadnaja Str., Moscow 125993
Yu. V. Rubleva
Federal Center for Cerebrovascular Pathology and Stroke;
Pirogov Russian National Research Medical University, Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
MD, PhD, Head of the First Department of Neurology;
Chair of Neurology, Neurosurgery and Medical Genetics, Faculty of Pediatrics,
1-10 Ostrovityanova Str., Moscow 117997
T. M. Krasilshchikova
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
MD, Assistant, Chair of Neurology, Neurosurgery and Medical Genetics, Faculty of Pediatrics,
1 Ostrovityanova Str., Moscow 117997
S. G. Burd
Federal Center for Cerebrovascular Pathology and Stroke;
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
MD, PhD, Professor at the Chair of Neurology, Neurosurgery and Medical Genetics, Faculty of Pediatrics,
1-10 Ostrovityanova Str., Moscow 117997;
1 Ostrovityanova Str., Moscow 117997
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Review
For citations:
Mironov M.B., Andreeva N.I., Fomchenkova D.S., Chebanenko N.V., Rubleva Yu.V., Krasilshchikova T.M., Burd S.G. Epilepsy in de Vivo syndrome: a literature review and a clinical case. Epilepsy and paroxysmal conditions. 2019;11(3):270-277. (In Russ.) https://doi.org/10.17749/2077-8333.2019.11.3.270-277
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