Tuberous sclerosis - A case report and review of literature
Abstract
Abstract
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome characterized by involvement of multiple system including central nervous system, kidney, skin, heart, lungs, and eye. It is frequently associated with skin lesions (96%); seizures (90%) and mental retardation (70%). Most common lesions associated with TSC are angiofibroma of face, ashleaf macules, shagreen patches, subependymal nodules, cortical tubers, mental retardation, and angiomyolipomas of kidney. The small benign tumours in the brain of affected individuals are the cause of neurological manifestations of the disorder. As prognosis depends on the involvement of brain, kidney and other vital organs; routine screening of a patient with tuberous sclerosis is required to determine the involvement of other organ systems. Combined skills of physician, radiologists and psychologist are required to manage a patient with TSC.
Keywords: Tuberous sclerosis, angiomyolipomas, shagreen patches, subependymal nodules, ashleaf macules, seizures
Özet
Tüberoz skleroz kompleksi santral sinir sistemi, böbrek, deri, kalp, akciğerler ve göz gibi çoklu sistem tutulumlu nörokutanöz bir sendromdur. Deri lezyonları(%96), nöbetler(%90) ve mental retardasyonla (%70) ilişkilidir. En sık görülen lezyonlar yüzde anjiofibrom, ash-leaf makülleri, shagreen lekeleri, subependimal nodüller, kortikal tüberler, mental retardasyon ve böbrekte anjiomyolipomlardır. Hastalığın nörolojik bulgularının nedeni beyindeki küçük benign tümörlerdir. Prognoz beyin, böbrek ve diğer hayati organların tutulumuna bağlı olduğu için diğer sistemik organ tutulumları da rutin taranmalıdır. Tüberoz sklerozlu hastanın tedavisinde hastayı izleyen hekimin ; radyolog ve psikiatristle de işbirliği içerisinde olması gerekmektedir.
Anahtar sözcükler: Tüberoz skleroz, anjiomyolipomlar, shagreen patchler, subependimal nodüller, ash-leaf maküller, nöbetler
Keywords
References
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Details
Primary Language
English
Subjects
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Journal Section
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Publication Date
March 27, 2012
Submission Date
December 13, 2011
Acceptance Date
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Published in Issue
Year 1970 Volume: 34 Number: 1