Tuberous Sclerosis

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Abstract


Aetiology, pathogenesis, clinical and patomorphological criteria for diagnosis of tuberous sclerosis diagnosis are described in this paper. Clinical case of long undiagnosed tuberous sclerosis is presented. 


About the authors

K. N. Monahov

Academician I. P. Pavlov First St. Petersburg State Medical University of the Ministry of Health of Russian Federation, St. Petersburg

Email: fake@neicon.ru

Russian Federation L'va Tolstogo str., 6/8, 197022

O. L. Romanova

Academician I. P. Pavlov First St. Petersburg State Medical University of the Ministry of Health of Russian Federation, St. Petersburg

Email: fake@neicon.ru

Russian Federation L'va Tolstogo str., 6/8, 197022

P. O. Amelina

Academician I. P. Pavlov First St. Petersburg State Medical University of the Ministry of Health of Russian Federation, St. Petersburg

Email: fake@neicon.ru

Russian Federation L'va Tolstogo str., 6/8, 197022

K. Yu. Molodyh

Academician I. P. Pavlov First St. Petersburg State Medical University of the Ministry of Health of Russian Federation, St. Petersburg

Author for correspondence.
Email: molodyhkristina@mail.ru

Russian Federation L'va Tolstogo str., 6/8, 197022

Yu. S. Astahov

Academician I. P. Pavlov First St. Petersburg State Medical University of the Ministry of Health of Russian Federation, St. Petersburg

Email: fake@neicon.ru

Russian Federation L'va Tolstogo str., 6/8, 197022

P. A. Nechiporenko

Academician I. P. Pavlov First St. Petersburg State Medical University of the Ministry of Health of Russian Federation, St. Petersburg

Email: fake@neicon.ru

Russian Federation L'va Tolstogo str., 6/8, 197022

L. K. Atlasova

Academician I. P. Pavlov First St. Petersburg State Medical University of the Ministry of Health of Russian Federation, St. Petersburg

Email: fake@neicon.ru

Russian Federation L'va Tolstogo str., 6/8, 197022

References

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  2. Дорофеева М. Ю. Туберозный склероз у детей. Российский вестник перинатологии и педиатрии. 2001;(4):33–41. [Dorofeeva M. Yu. Tuberoznyj skleroz u detej. Rossijskij vestnik perinatologii i pediatrii. 2001;(4):33–41.]
  3. Мосин И. М., Дорофеева М. Ю., Балаян И. Г., Яркина О. С. Офтальмологические проявления туберозного склероза. Российский вестник перинатологии и педиатрии. 2012;(5):77–81. [Mosin I. M., Dorofeeva M. Yu., Balayan I. G., Yarkina O. S. Oftal'mologicheskie proyavleniya tuberoznogo skleroza. Rossijskij vestnik perinatologii i pediatrii. 2012;(5):77–81.]
  4. Osborne J. P., Fryer A., Webb D. Epidemiology of Tuberous Sclerosis. Ann. N. Y. Acad. Sci. 1991;615:125–128.
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  9. Roach E. S., Di Mario F. J., Kandt R. S., Northrup H. Tuberous Sclerosis Consensus Conference: Recommendations for Diagnostic Evaluation. J. Child Neurol. 1999;14(6):401–407.
  10. Rogers R. S., O'Connor W. J. Dermatologic Manifestations. In: Tuberous Sclerosis. Ed. by M. Gomes, J. Sampson, V. Whittemore. New York; Oxford: Oxford University Press, 1999. P. 160–180.
  11. Curatolo P., Cusmai R., Cortesi F. et al. Neuropsychiatric aspects of tuberous sclerosis. Ann. N. Y. Acad. Sci. 1991;615:8–16.
  12. Крапивкин А. И., Дорофеева М. Ю. Нарушения умственного развития и поведения у детей с туберозным склерозом. Российский вестник перинатологии и педиатрии. 2011;(4):78–83. [Krapivkin A. I., Dorofee va M. Yu. Narusheniya umstvennogo razvitiya i povedeniya u detej s tuberoznym sklerozom. Rossijskij vestnik perinatologii i pediatrii. 2011;(4):78–83.]
  13. Hunt A. Psychiatric and Psychological Aspects. In: Tuberous Sclerosis. Ed. by M. Gomes, J. Sampson, V. Whittemore. New York; Oxford: Oxford University Press, 1999. P. 47–62.
  14. Ohtsuka Y., Ohmori I., Oka E. Long-Term Follow-Up of Childhood Epilepsy Associated with Tuberous Sclerosis. Epilepsia. 1998;39(11):1158– 1163.
  15. Jozwiak S. Cardiac and Vascular Involvement. In: Tuberous Sclerosis Complex: from Basic Science to Clinical Phenotypes. Ed. by P. Curatolo. London,: Mac Keith Press, 2003. P. 26–45.
  16. Lie J. T. Pulmonary Tuberous Sclerosis. In: Tuberous Sclerosis. Ed. by M. Gomes, J. Sampson, V. Whittemore. New York; Oxford: Oxford University Press, 1999. P. 207–217.

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