Preview

Epilepsy and paroxysmal conditions

Advanced search

Epilepsy in de Vivo syndrome: a literature review and a clinical case

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

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

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

6th year Medical Student,

1 Ostrovityanova Str., Moscow 117997



N. V. Chebanenko
Russian Medical Academy of Postgraduate Education
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

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

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

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



References

1. De Vivo D.C., Trifiletti R.R., Jacobson R. I., Ronen G.M., Behmand R.A., Harik S. I. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med. 1991 Sep 5; 325 (10): 703-9.

2. Kozhanova T.V., Zhilina S.S., Meshcheryakova T. I., Aivazyan S.O., Osipova K.V., Sushko L.M., Luk’yanova E.G., Prityko A.G. GLUT1 deficiency syndrome (De Vivo disease): clinical and genetics aspects. Meditsinskaya genetika (in Russ). 2016; 15 (7): 28-36. DOI: org/10.1234/XXXX-XXXX-2016-7-28-32.

3. Mullen S.A., Suls A., De Jonghe P., Berkovic S. F., Scheffer I. E. Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. Neurology. 2010; DOI: 10.1212/WNL.0b013e3181eb58b4.

4. Arsov T., Mullen S.A., Rogers S., Phillips A.M., Lawrence K.M., Damiano J.A., Goldberg-Stern H., Afawi Z., Kivity S., Trager C., Petrou S., Berkovic S. F., Scheffer I. E. Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. Ann Neurol. 2012; DOI: 10.1002/ana.23702.

5. De Giorgis V., Teutonico F., Cereda C., Balottin U., Bianchi M., iordano L., Olivotto S., Ragona F., Tagliabue A., Zorzi G., Nardocci N., Veggiotti P. Sporadic and familial glut1ds Italian patients: A wide clinical variability. Seizure. 2015; DOI: 10.1016/j.seizure.2014.11.009.

6. Lukyanova E.G., Ayvazyan S.O., Osipova K.V., Pyreva E.A., Sorvachev a T.N. Experience of using ketogenic diet in a patient with glucose transporter 1 deficiency syndrome (a case report). Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova (in Russ). 2015; 115 (5-2): 53-60. DOI: 10.17116/jnevro20151155253-60.

7. Suls A., Mullen S.A., Weber Y.G., Verhaert K., Ceulemans B., Guerrini R., Wuttke T.V., Salvo-Vargas A., Deprez L., Claes L.R., Jordanova A., Berkovic S. F., Lerche H., De Jonghe P., Scheffer I. E. Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol. 2009 DOI: 10.1002/ana.21724.

8. Lebon S., Suarez P., Alija S., Korff C.M., Fluss J., Mercati D., Datta A.N., Poloni C., Marcoz J.P., Campos-Xavier A.B., Bonafé L., Roulet-Perez E. When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies? Eur J Paediatr Neurol. 2015 Mar; 19 (2): 170-5. DOI: 10.1016/j.ejpn.2014.11.009.

9. Hildebrand M.S., Damiano J.A., Mullen S.A., Bellows S. T., Oliver K. L., Dahl H.H., Scheffer I. E., Berkovic S. F. Glucose metabolism transporters and epilepsy: only GLUT1 has an established role. Epilepsia. 2014 Feb; 55 (2): e18-21. DOI: 10.1111/epi.12519. Epub 2014 Jan 31.

10. Roulet-Perez E., Ballhausen D., Bonafé L., Cronel-Ohayon S., MaederIngvar M. Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy. Epilepsia. 2008 Nov; 49 (11): 1955-8. DOI: 10.1111/j.1528-1167.2008.01654.x.

11. Klepper J., Leiendecker B. GLUT1 deficiency syndrome--2007 update. Dev Med Child Neurol. 2007 Sep; 49 (9): 707-16.

12. Larsen J., Johannesen K.M., Ek J., Tang S., Marini C., Blichfeldt S., Kibaek M., von Spiczak S., Weckhuysen S., Frangu M., Neubauer B.A., Uldall P., Striano P., Zara F. MAE working group of EuroEPINOMICS RES Consortium, Kleiss R., Simpson M., Muhle H., Nikanorova M., Jepsen B., Tommerup N., Stephani U., Guerrini R., Duno M., Hjalgrim H., Pal D., Helbig I., Møller R.S. The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. Epilepsia. 2015; DOI: 10.1111/epi.13222.

13. Ragona F., Matricardi S., Castellotti B., Patrini M., Freri E., Binelli S., Granata T. Refractory absence epilepsy and glut1 deficiency syndrome: a new case report and literature review. Neuropediatrics. 2014 Oct; 45 (5): 328-32. DOI: 10.1055/s-0034-1378130.

14. Striano P., Weber Y.G., Toliat M.R., Schubert J., Leu C., Chaimana R., Baulac S., Guerrero R., LeGuern E., Lehesjoki A. E., Polvi A., Robbiano A., Serratosa J.M., Guerrini R., Nürnberg P., Sander T., Zara F., Lerche H., Marini C. Epicure Consortium. GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy. Neurology. 2012 Feb 21; 78 (8): 557-62. DOI: 10.1212/WNL.0b013e318247ff54.

15. Wolking S., Becker F., Bast T., Wiemer-Kruel A., Mayer T., Lerche H., Weber Y.G. Focal epilepsy in glucose transporter type 1 (Glut1) defects: case reports and a review of literature. J Neurol. 2014 Oct; 261 (10): 1881-6. DOI: 10.1007/s00415-014-7433-5.

16. Peeraer A., Damiano J.A., Bellows S. T., Scheffer I. E., Berkovic S. F., Mullen S.A., Hildebrand M.S. Evaluation of GLUT1 variation in non-acquired focal epilepsy. Epilepsy Res. 2017 Jul; 133: 54-57. DOI: 10.1016/j.eplepsyres.2017.04.007.

17. Muhle H., Helbig I., Frøslev T.G., Suls A., von Spiczak S., Klitten L. L., Dahl H.A., Brusgaard K., Neubauer B., De Jonghe P., Tommerup N., Stephani U., Hjalgrim H., Møller R.S. The role of SLC2A1 in early onset and childhood absence epilepsies. Epilepsy Res. 2013. DOI: 10.1016/j. eplepsyres.2012.11.004.


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

Views: 1605


ISSN 2077-8333 (Print)
ISSN 2311-4088 (Online)