Tuberous Sclerosis
- Authors: Monahov K.N.1, Romanova O.L.1, Amelina P.O.1, Molodyh K.Y.1, Astahov Y.S.1, Nechiporenko P.A.1, Atlasova L.K.1
-
Affiliations:
- Academician I. P. Pavlov First St. Petersburg State Medical University of the Ministry of Health of Russian Federation, St. Petersburg
- Issue: Vol 93, No 5 (2017)
- Pages: 82-88
- Section: CLINICAL CASE REPORTS
- URL: https://journals.rcsi.science/0042-4609/article/view/116886
- DOI: https://doi.org/10.25208/0042-4609-2017-93-5-82-88
- ID: 116886
Cite item
Full Text
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
L'va Tolstogo str., 6/8, 197022 Russian Federation
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
L'va Tolstogo str., 6/8, 197022 Russian Federation
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
L'va Tolstogo str., 6/8, 197022 Russian Federation
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
L'va Tolstogo str., 6/8, 197022 Russian Federation
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
L'va Tolstogo str., 6/8, 197022 Russian Federation
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
L'va Tolstogo str., 6/8, 197022 Russian Federation
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
L'va Tolstogo str., 6/8, 197022 Russian Federation
References
- Страхова О.С., Катышева О.В., Дорофеева М.Ю. и др. Туберозный склероз. Российский медицинский журнал. 2004;(3):52–54. [Straho va O. S., Katysheva O. V., Dorofeeva M. Yu. et al. Tuberoznyj skleroz. Rossijskij medicinskij zhurnal. 2004;(3):52–54.]
- 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.]
- 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.]
- Osborne J. P., Fryer A., Webb D. Epidemiology of Tuberous Sclerosis. Ann. N. Y. Acad. Sci. 1991;615:125–128.
- 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. by P. Curatolo. London: Mac Keith Press, 2003. P. 228–263.
- Bolton P. Intellectual and Cognitive Impairments. In: Tuberous Sclerosis Complex: from Basic Science to Clinical Phenotypes. Ed. by P. Curatolo. London: Mac Keith Press, 2003. P. 77–90.
- Curatolo P., Seri S. Seizures. In: Tuberous Sclerosis Complex: from Basic Science to Clinical Phenotypes. Ed. by P. Curatolo. London, England: Mac Keith Press, 2003. P. 46–77.
- Northrup H., Krueger D. A. Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr. Neurol. 2013;49(4):243– 254.
- 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.
- 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.
- Curatolo P., Cusmai R., Cortesi F. et al. Neuropsychiatric aspects of tuberous sclerosis. Ann. N. Y. Acad. Sci. 1991;615:8–16.
- 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.]
- 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.
- Ohtsuka Y., Ohmori I., Oka E. Long-Term Follow-Up of Childhood Epilepsy Associated with Tuberous Sclerosis. Epilepsia. 1998;39(11):1158– 1163.
- 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.
- 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.
Supplementary files
