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dc.contributor.author Gamirova R.
dc.date.accessioned 2019-01-22T20:57:31Z
dc.date.available 2019-01-22T20:57:31Z
dc.date.issued 2018
dc.identifier.issn 2191-1630
dc.identifier.uri https://dspace.kpfu.ru/xmlui/handle/net/149613
dc.description.abstract © 2018, Springer Science+Business Media, LLC, part of Springer Nature. The article is a contribution to the international database of tuberous sclerosis case studies. As tuberous sclerosis complex (Bourneville–Pringle disease) is a rare genetically determined polysystemic disease, each clinical case is very significant. The first clinical symptoms of the disease usually appear immediately after birth, but they differ in significant polymorphism and affect brain, different organs, and systems, including changes in the skin, nervous system, eyes, and inner organs. Accurate diagnosis of tuberous sclerosis is fundamental to proper medical supervision and treatment. The article describes modern genetic and clinical criteria of diagnosis in detail; the specificity of the clinical case and problems emerged during follow-up of the patient, diagnostic errors, and findings. The author proves the importance of a multidisciplinary approach not only in diagnosis but also in the treatment of tuberous sclerosis including neuropsychological approaches.
dc.relation.ispartofseries BioNanoScience
dc.subject Angiofibroma
dc.subject Bourneville–Pringle disease
dc.subject Epileptic seizures
dc.subject Genetic disease
dc.subject Hamartoma
dc.subject Tuberous sclerosis
dc.subject Tuberous sclerosis complex
dc.title Tuberous Sclerosis Complex: a Case Study
dc.type Article
dc.relation.ispartofseries-issue 3
dc.relation.ispartofseries-volume 8
dc.collection Публикации сотрудников КФУ
dc.relation.startpage 859
dc.source.id SCOPUS21911630-2018-8-3-SID85052757667


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  • Публикации сотрудников КФУ Scopus [24551]
    Коллекция содержит публикации сотрудников Казанского федерального (до 2010 года Казанского государственного) университета, проиндексированные в БД Scopus, начиная с 1970г.

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