Clinical and Demographic Features of Tuberous Sclerosis Complex Patients

Year 2020, Volume: 42 Issue: 4, 384 - 391, 13.07.2020

Ozan Kocak , Kürşat Bora Çarman , Coşkun Yarar , Sevgi Yimenicioğlu

https://doi.org/10.20515/otd.594858

Abstract

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

Tüberoskleroz Kompleksi Hastalarının Klinik ve Demografik Özellikleri

Abstract

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.

Keywords

Hamartom;cilt;nöbet;epilepsi

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