Ozan KOCAK, Kürşat BORA ÇARMAN, Coşkun YARAR, Sevgi YİMENİCİOĞLU

Tüberoskleroz Kompleksi Hastalarının Klinik ve Demografik Özellikleri

Tüberoskleroz kompleksi, sık görülen, birçok organ ve sistemi etkileyen nörokutanöz hastalıklardan biridir. Neden olduğu epilepsi ve nöropsikiyatrik bozukluklar sonucunda hasta ve ailesi için ciddi sağlık ve sosyal problemler oluşmasına yol açar. Biz bu çalışmada kliniğimizde takip ettiğimiz 27 tüberoskleroz kompleks hastasını sunmayı amaçladık. Retrospektif olarak planlanan bu çalışmada, Çocuk Nörolojisi Kliniği’nde 2000-2005 yılları arasında tüberoskleroz kompleks tanısı ile takip edilen 27 hasta çalışmaya alındı. Hastaların, klinik, laboratuvar ve demografik verileri geriye dönük olarak derlendi. Çalışmaya alınan hastaların 15’i (%55,6) erkek ve 12’si (%44,4)kadın idi. Hastaların tanı almadan önce hastaneye başvuru şikayetlerine bakıldığında, 22 (%81,5) hastanın nöbet geçirme nedeni ile, 4 hastanın (%14,8) hipopigmente döküntü nedeni ile ve bir hastanın (%3,7) karın ağrısı nedeni ile hastaneye başvurduğu görüldü. Nöbet geçiren 13 (%48,1) hastada jeneralize nöbet, 6 hastada infantil spasm(%22,2), 3 hastada(%11,1) fokal nöbet saptandı. Ortalama nöbet geçirme yaşı 28 ±7,2 aydı. Hastalığın diğer bulguları arasında, ciltte hipomelanotik maküller hastaların hepsinde vardı. Dokuz hastada (%33,3) yüzde anjiofibrom vardı. Çalışmamızda hastaların, literatürle uyumlu olarak, en sık nöbet geçirme nedeni ile hastaneye başvurduktan sonra tanı aldıkları görüldü. Ancak karın ağrısı gibi tipik olmayan bir yakınma ile başvuran hastamızda mevcuttu. Görüntüleme yöntemlerinin daha ulaşılabilir olmasına rağmen, tanı yaşının 13 yıla kadar uzadığı tespit edildi. Özellikle nöbet geçiren hastalarda yapılacak cilt muayenesinin, halen tüberoskleroz hastalığının tanısı için en önemli yöntem olduğunu hatırlatmak istiyoruz.

Anahtar Kelimeler:

Hamartom;cilt;nöbet;epilepsi

Clinical and Demographic Features of Tuberous Sclerosis Complex Patients

The tuberous sclerosis complex is one of the most common neurocutaneous diseases affecting many organs and systems. It causes serious health and social problems for the patient and his family as a result of epilepsy and neuropsychiatric disorders. In this study, we aimed to present 27 patients with tuberous sclerosis complex who were followed in our clinic. This retrospective study, include 27 patients with the diagnosis of tuberous sclerosis complex who were followed up in the Pediatric Neurology Clinic between 2000 and 2005 years. Clinical, laboratory and demographic data of the patients were reviewed retrospectively. Fifteen patients (55.6%) were male and 12 patients (44.4%) were female. When the patients were admitted to hospital before diagnosis, 22 (81.5%) patients had seizures, 4 (14.8%) had hypopigmented rash and one (3.7%) had abdominal pain. . Generalized seizures were seen in 13 patients (48.1%), infantile spasm in 6 patients (22.2%) and focal seizures in 3 patients (11.1%). The mean age at seizure was 28 ± 7.2 months. Among the other findings of the disease, hypomelanotic macules on the skin were present in all patients. Nine patients (33.3%) had angiofibroma. In our study, It was observed that the complaint at presentation was seizure. However, as in a patient in our study, it was observed that TSC patients may present to the hospital with abdominal pain. Although imaging methods were more accessible, the age at diagnosis may extended to 13 years. We would like to remind that skin examination, especially in patients with seizures, is still the most important method for the diagnosis of TSC

Keywords:

Hamartoma; skin; seizures; epilepsy,

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