Özlem HERGÜNER, Faruk İNCECİK, Kenan ÖZCAN, Akir ALTUNBAŞAK

Tuberosklerozlu 19 olgunun geriye dönük olarak değerlendirilmesi

Amaç: Tuberoskleroz tanısı koyulan olgularımızın klinik ve laboratuvar bulgularını geriye dönük olarak gözden geçirmek ve literatür ile karşılaştırmaktır. Gereç ve Yöntem: Çukurova Üniversitesi Tıp Fakültesi Çocuk Nöroloji Polikliniği'nde tetkik edilerek tuberoskleroz tanısı koyulan 19 olgunun klinik ve laboratuvar özellikleri geriye dönük olarak incelendi. Bulgular: Çakmaya alınan hastaların 14'ü (%73,7) erkek ve 5'i (%26,3) kız idi. Onyedi olgu (%89,4) konvülziyon geçirme nedeni ile, iki olgu (%10,6) ise vücudundaki lekeler nedeniyle başvurmuştu. Ciltte hipopigmente lezyonlar hastaların hepsinde saptandı. Bilgisayarlı beyin tomografisinde en sık saptanan bulgu periventriküler subepandimal nodüller (%89,4) idi. Merkezi sinir sistemi ve cilt bulguları yanında, dört olguda (%21,1) kalp, iki olguda (%10,5) böbrek ve iki olguda (%10,5) göz tutulumu vardı. Çıkarımlar: Literatürlerle uyumlu olarak konvülziyon, hipopigmente deri lezyonu, zekâ-motor geriliği ve beynin görüntülemesinde subepandimal nodüller en sık görülen belirti ve bulgular olarak dikkat çekti.

The retrospective evaluation of nineteen cases of tuberous sclerosis

Aim: The aim of this study is to evaluate the clinical and laboratory data of cases with tuberous sclerosis retrospectively and to corralate the findings with literature. Material and Method: Nineteen cases diagnosed as tuberous sclerosis at Medical Faculty of Çukurova University were evaluated retrospectively with their clinical and laboratory findings. Results: Fourteen of the cases (73.7%) were males and the remainings five were females (26.3%). Nineteen cases (89.4%) were admitted with convulsions and two were admitted with skin lesions. All of the patients had hypopigmented skin lesions. The most common findings recorded at cerebral computarized tomography were periventricular subependimal nodules (89.4%). Beside central nervous system and skin findings, four patients with heart (21.1%), two with kidney, also two with eye involvement were detected. Conclusions: It was is found that convulsions, motor mental retardation, hypomelanotic macules and subependimal nodules at cerebral computarized tomography were the most common signs and symptomes.

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