R.G. GAMIROVA¹, O.V. KNYAZEVA¹, A.R. GADIEVA¹, S.M. BILALOVA²

¹KSMA ― Branch Campus of the FSBEI FPE RMACPE MOH Russia, 36 Butlerov Str., Kazan, Russian Federation, 420012

²Kazan Municipal Children’s Hospital №8 named after A.Yu. Ratner, 11 Galeev Str., Kazan, Russian Federation, 420061

 Gamirova R.G. ― Cand. Med. Sc., Associate Professor of the Department of Pediatric Neurology, tel.: (843) 273-49-09, e-mail: r-gamirov@mail.ru

Knyazeva O.V. ― Cand. Med. Sc., Associate Professor of the Department of Pediatric Neurology, tel.: (843) 273-49-09, e-mail: knyazeva.dnevr@mail.ru

Gadieva A.R. ― resident of the Department of Pediatric Neurology, tel.: (843) 273-49-09, e-mail:  reimslink@mail.ru

Bilalova S.M. ― doctor-neurologist, tel.: (843) 273-45-79, e-mail: detbol8@mail.ru           

 The article describes a rare case of genetically determined polysystemic disease ― Bourneville ― Pringle syndrome. Accurate diagnosis of tuberous sclerosis is of fundamental importance. The article is focused on the modern genetic and clinical diagnostic criteria of the disease. The authors analyzed the peculiarities and diagnostic errors of the clinical case. They demonstrated the importance of a multidisciplinary approach not only in diagnosis but also in the treatment of this disease.

Key words: pediatric neurology, genetic diseases, tuberous sclerosis.

REFERENCES

1. The Tuberozny sclerosis / Under the editorship of M. Yu. Dorofeyeva. — M.: Applied medicine, 2012. — 240 pages. (in Russ.)
2. Osborne J. P., Fryer A., Webb D. Epidemiology of Tuberous Sclerosis. Annals of the New York Academy of Sciences. 1991; 615: 125-128.
3. Dorofeyeva M. Yu., Strakhova O. S., Katyshev O. V., Osipov E. K., Chumak O. I., Dobrynin M. V. Tuberozny a sclerosis//Medical journal the Attending physician – URL: http://www.lvrach.ru/2005/08/4532910/ (in Russ.)
4. Kwiatkowski D. J., Reeve M. P., Cheadle J. P., Sampson J. R. Molecular Genetics. In: Nuberous Sclerosis complex: from Basic Science to Clinical Phenotypes. Ed: Curatolo P. London, England: Mac Keith Press. 2003; 228-263.
5. Dorofeyeva M. Yu., Belousova E. D. Possibilities of pathogenetic therapy of a tuberozny sclerosis//Effective pharmacotherapy. Pediatrics. – 2012. — No. 4. Page 50-58. (in Russ.)
6. Krueger DA, Northrup H. The International Tuberous Sclerosis Complex Consensus Group. Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013; 49:255–265.
7. Yusupova L. A., Garayeva Z. Sh., Yunusova E. I., Mavlyutova G. I., Hayertdinova L. A., Galikhanova E. E., Rokitsky V. N. Burnevillya-Pringlya disease//Attending physician. — 2012. — No. 10. — Page 18-21. (in Russ.)