Tüberoskleroz’un Santral Sinir Sistemi Tutulumunun Radyolojik Bulguları

Öz

Nörokutanöz hastalıklar, deri, göz ve sinir sistemi gibi ektodermal kökenli dokuları etkiler, çoğu otozomal dominant geçişlidir. Fakomatozlar olarak da bilinirler. Tuberoskleroz en sık görülen tek gen hastalığıdır. Spontan mutasyon olguların üçte ikisinin sebebidir. Tanı klinik ve radyolojik bulgulara göre konulur. Klasik triadı epilepsi, mental gerilik ve adenoma sebaseum olarak bilinen cilt lezyonlarıdır; bununla birlikte bu triad hastaların yalnızca yarısında görülür. Hastalarda otizm gibi davranış sorunları ortaya çıkabilir. Olguların yarısının zeka seviyesi normaldir. Klinik bulguların hepsinin birlikte görülmesi nadir olduğundan radyolojik bulguların tanınması tanı koymada önemlidir. Tüberosklerozda dört yaygın santral sinir sistemi anormalliği görülür; kortikal tüberler, subepandimal nodüller, beyaz cevher anormallikleridir ve subepandimal dev hücreli astrositomlar. Kalpte rabdomyom, böbrekte anjiomyolipom yaygın diğer radyolojik bulgulardır. Akciğer, karaciğer, gastrointestinal sistem ve kemik bulguları da görülebilir. Radyolojik görüntüleme hem tanı, hem de tedavi takibinde kullanılır. Kortikal veya subepandimal tüberler, beyaz cevher anormallikleri, kardiyak rabdomyom ve böbrekte anjiomyolipom gibi bulguların varlığı, karakteristik semptom veya cilt lezyonları olan olgularda tanıyı doğrulamamıza ve yeni olgularda herhangi bir klinik bulgu olmaksızın tüberosklerozdan şüphelenmemize yol açar. Tuberoskleroz tedavisinde ilaç tedavisi seçeneği de ortaya çıkmıştır. Tüberoskleroz tedavisinde ilaç tedavisi seçeneği de gündeme gelmiştir. Tüberosklerozun etkilediği TSC1 ve TSC2 genleri hamartin ve tuberin proteinlerini kodlamaktadır. Bu proteinler hücre çoğalması ve büyümesini kontrol eden yolağı baskılamaktadır. Rapamisin bu yolağı etkiler. Bu derlemede, tüberosklerozun santral sinir sistemi tutulumunun radyolojik özelliklerinin incelenmesi amaçlanmıştır.

Anahtar Kelimeler

• tüberoskleroz,mental retardasyon

Radiological Findings of Tuberous Sclerosis in Central Nervous System

Abstract

Neurocutaneous diseases affect tissues of the ectodermal origin such as the skin, eye and nervous system, most of which are autosomal dominant. They are also known as phacomatoses. Tuberous sclerosis is the most common single gene disease. Spontaneous mutation is the cause of two-thirds of the cases. The diagnosis is made based on clinical and radiological findings. The classical triad of symptoms epilepsy, mental retardation, and skin lesions known as adenoma sebaceum; however, this triad is present in only half of the patients. Patients may experience behavioral problems such as autism. Half of the cases have normal levels of intelligence. Since coexistence of all clinical findings are rare, radiological findings are important in diagnosis. There are four common central nervous system abnormalities in tuberous sclerosis: cortical tubers, subepandimal nodules, white matter abnormalities, and subepandimal giant cell astrocytomas. Cardiac rhabdomyoma in heart and renal angiomyolipoma in kidneys are the other common radiological findings. Lung, liver, gastrointestinal system, and bone lesions can also be seen. Radiological imaging is used in both diagnosis and treatment follow-up. The presence of signs, such as cortical or subepandymal tubers, white matter abnormalities, cardiac rhabdomyoma, and kidney angiomyolipoma, helps to confirm the diagnosis in cases with characteristic symptoms or skin lesions, and it leads to suspicion of tuberous sclerosis in new cases without any clinical findings. Drug treatment option has also been emerged in the treatment of tuberous sclerosis. TSC1 and TSC2 genes affected by tuberous sclerosis encode hamartin and tuberin proteins. These proteins suppress the pathway that controls cell proliferation and growth. Rapamycin used in treatment affects this pathway. In this review, we aimed to examine the radiological features of central nervous system involvement of tuberous sclerosis.

Keywords

• tuberous sclerosis,mental retardation

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