Deepak JAIN, Hari Krishan AGGARWAL, Promil JAIN, Sachin YADAV, Vipin KAVERAPPA, Ashwani KUMAR

Tuberous sclerosis - A case report and review of literature

Tüberoz skleroz kompleksi santral sinir sistemi, böbrek, deri, kalp, akciğerler ve göz gibi çoklusistem tutulumlu nörokutanöz bir sendromdur. Deri lezyonları(%96), nöbetler(%90) ve mentalretardasyonla (%70) ilişkilidir. En sık görülen lezyonlar yüzde anjiofibrom, ash-leaf makülleri,shagreen lekeleri, subependimal nodüller, kortikal tüberler, mental retardasyon ve böbrekteanjiomyolipomlardır. Hastalığın nörolojik bulgularının nedeni beyindeki küçük benigntümörlerdir. Prognoz beyin, böbrek ve diğer hayati organların tutulumuna bağlı olduğu için diğersistemik organ tutulumları da rutin taranmalıdır. Tüberoz sklerozlu hastanın tedavisinde hastayıizleyen hekimin; radyolog ve psikiatristle de işbirliği içerisinde olması gerekmektedir.

Tüberoz skleroz bir vaka ve literatürün gözden geçirilmesi

Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome characterized by involvement ofmultiple system including central nervous system, kidney, skin, heart, lungs, and eye. It isfrequently associated with skin lesions (96%); seizures (90%) and mental retardation (70%). Mostcommon lesions associated with TSC are angiofibroma of face, ashleaf macules, shagreen patches,subependymal nodules, cortical tubers, mental retardation, and angiomyolipomas of kidney. Thesmall benign tumours in the brain of affected individuals are the cause of neurologicalmanifestations of the disorder. As prognosis depends on the involvement of brain, kidney andother vital organs; routine screening of a patient with tuberous sclerosis is required to determinethe involvement of other organ systems. Combined skills of physician, radiologists andpsychologist are required to manage a patient with TSC.

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