Epilepsia and paroxyzmal conditions

Advanced search


Full Text:


The article deals with epileptic manifestations with malformations of the corpus callosum of the example of two disembriogenetic syndromes (Aicardi syndrome and Pierre-Robin syndrome). These hereditary syndromes have in common is expressed epileptic manifestations, malformations of the corpus callosum and other somatic congenital abnormality. The treatment is mainly symptomatic. Unlike most other neurogenetic syndromes with known molecular defect, DNA testing at Aicardi syndrome and Pierre-Robin syndrome is very difficult task, and the focus of the diagnosis of the disease belongs to the complex clinical and neuroimaging studies. Timely detection of these syndromes is a difficult task that requires a great deal of clinical experience, practical knowledge, not only in neuroscience but also in the related fields of medicine.

About the Authors

O. A. Milovanova
Russian Medical Academy of Postgraduate Education of the Ministry of Health of the Russian Federation; Children’s city clinical hospital named after Z.A. Bashlyaevoy
Russian Federation

MD, professor of department of pediatric neurology,

ul. Barrikadnaja, d. 2/1, Moscow, 125993

E. R. Moyzykevich
Russian Medical Academy of Postgraduate Education of the Ministry of Health of the Russian Federation
Russian Federation

graduate student,

ul. Barrikadnaja, d. 2/1, Moscow, 125993

G. G. Avakian
FSBE HEN. I. Pirogov RNRMU MOH Russia
Russian Federation

PhD, Department of Neurology, Neurosurgery and Medical Genetics,

ul.Ostrovityanova, 1, Moscow, 117997

Y. Yu. Tarakanova
Russian Medical Academy of Postgraduate Education of the Ministry of Health of the Russian Federation
Russian Federation

graduate student,

ul. Barrikadnaja, d. 2/1, Moscow, 125993


1. Alikhanov A.A. Russkii zhurnal detskoi nevrologii. 2010; 4: 17-28.

2. Dzhons K. Hereditary syndromes by David Smith. Atlas Directory [Nasledstvennye sindromy po Devidu Smitu. Atlas-spravochnik (in Russian)]. Moscow. 2011; 1024 s.

3. Milovanova O.A., Konovalov R.N., Illarioshkin S.N. Malformation of the corpus callosum. Clinical manifestations and neuroimaging. Tutorial [Poroki razvitiya mozolistogo tela. Klinicheskie i neirovizualizatsionnye proyavleniya. Uchebnoe posobie (in Russian)]. Moscow. 2015.

4. Milovanova O.A. Sindrom Aikardi (obzor literatury). Zhurnal nevrologii i psikhiatrii im S.S. Korsakova. 2011; 8: 75-78.

5. Mosin I.M. Congenital anomalies of the optic nerve. Hereditary and congenital diseases of the retina and optic nerve. Ed. AM Shamshinova [Vrozhdennye anomalii zritel’nogo nerva. Nasledstvennye i vrozhdennye zabolevaniya setchatki i zritel’nogo nerva. Pod red. A.M. Shamshinovoi (in Russian)]. Moscow. 2001; 459-510.

6. Skvortsov I.A., Ermolenko N.A. The development of the nervous system in children in health and disease [Razvitie nervnoi sistemy u detei v norme i patologii (in Russian)]. Moscow. 2003; 368 c.

7. Aicardi J. Aicardi syndrome: old and new findings. International Pediatrics. 1999; 14: 5-8.

8. Avanzini G. Perspectives in epileptology. International Conference “Epilepsy – medical and social aspects, diagnosis and treatment”. XI Russian National Congress “Man and Medicine”. Moscow. 2004; 23-28.

9. Bodensteiner J., Schafer G.B., Breeding L. et al. Hypoplasia of the corpus callosum: a study of 445 consecutive MRI scans. J. Child. Neurol. 1994; 9: 47.

10. Camfield P., Camfield C., Lortie A. et al. Infantile spasms in remission may reemerge as intractable epileptic spasms. Epilepsia. 2003; 44: 1592-1595.

11. Davilla-Gutierrez G. Agenesis and dysgenesis of the corpus callosum. Sem. Pediatr. Neurol. 2002; 9: 292.

12. Hutt S., Newton S. Choicereactiontime and EEG activity in children with epilepsy. Neuropsychologia. 1997; 15: 257-267.

13. Govaert R., de Vries L. An atlas of Neonatal Brain Sonigraphy. Mac Keith Press. 2010; 60-70.

14. Illarioshkin S.N., Zagorovskaya T.B., Markova E.D. et al. Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile parkinsonism. Mov. Disord. 2003; 18: 914-919.

15. Illarioshkin S. N., Ivanova-Smolenskaya I.A., Markova E. D. et al. Molecular genetic analysis of essential tremor. Russian Journal of Genetics. 2002; 12: 1447-1451.

16. Illarioshkin S.N., Tanaka H., Tsuji S. et al. Refined genetic location of the chromosome 2p-linked progressive muscular dystrophy gene. Genomics. 1997; 42: 345-348.

17. Ivanova-Smolenskaya I.A., Ovchinnikov I.V., Karabanov A.V. et al. The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. J. Med. Genet. 1999; 36: 174.

18. Mehta N.M., Hartnoll G. Congenital CMV with callosal lipoma and agenesis. Pediatr. Neurol. 2001; 24: 222-224.

19. Menezes A.V., Lewis T. L., Buncic J.R. Role of ocular involvement in the prediction of visual development and clinical prognosis in Aicardi syndrome. Brit. J. Ophthalmol. 1996; 80: 805-811.

20. Molina J.A., Mateos F., Merino M. et al. Aicardi syndrome in two sisters. J. Pediatr. 1989; 115: 282-283.

21. Pavone P., Baron R., Baieli S. et al. Callosal anomalies with interhemispheric cyst: expanding the phenotype. Acta. Pediatr. 2005; 94: 1066-1072.

22. Quadens O. Orderand disorder in the brain function. Neuroendocrinol. Lett. 2003; 24: 151-160.

23. Ropers H.H., Zuffardi O., Bianchi E., Tiepolo L. Agenesis of corpus callosum, ocular and sceletal anomalies (X-linked dominant Aicardi’s syndrome) in a girl with balanced X/3 translocation. Hum. Genet. 1982; 61: 364-368.

24. Saltik S., Kocer N., Dervent A. Informative value of magnetic resonance imagingand EEG in theprognosis of infantile spasms. Epilepsia. 2002; 43: 246-252.

25. Saneto R.P., Sotero de Menezes M. Persistence of suppression-bursts in a patient with Ohtahara syndrome. J. Child Neurol. 2007; 22: 631-634.

26. Shadrina M.I., Semenova E.V., Slominsky P.A. et al. Effective quantitative real-time polymerase chain reaction analysis of the parkin gene (PARK2) exon 1-12 dosage. BMC Medical Genetics. 2007; 8: 6.

27. Sheinkman O. Brain function peculiarities in premature babies and infants with perinatal

28. encephalopathy and cerebral palsy. J. Neurol. Psikhiatr. Im. S.S. Korsakova. 2003; 103: 37-42.

29. Tomaiuolo F. Gross morphology and morphometric sequelae in the hippocampus, fornix, and corpus callosum of patients with severe non-missile traumatic brain injury without macroscopically detectable lesions: a T1 weighted MRI study. J. Neurol. Neurosurg. Psychiatry. 2004; 75: 1314-1322.

30. Young I.D., Trounce M. I., Fitzsimmons J. L. et al. Agenesis of the corpus callosum and macrocephaly in siblings. Clin. Genet. 1985; 28: 225.

31. Zupanc M. Infantile spasms. Expert Opin Pharmacother. 2003; 4: 2039-2048.

For citation:

Milovanova O.A., Moyzykevich E.R., Avakian G.G., Tarakanova Y.Y. EPILEPSY MANIFESTATIONS IN PATIENTS WITH MALFORMATIONS OF THE CORPUS CALLOSUM. Epilepsia and paroxyzmal conditions. 2016;8(4):8-12. (In Russ.)

Views: 204

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