Evaluation of Tuberous Sclerosis Complex Patients

Year 2020, , 82 - 87, 02.03.2020

Zeynep Selen Karalök , Alev Güven Hüsniye Altan , Zeynep Öztürk , Nesrin Ceylan , Esra Gürkaş

https://doi.org/10.30565/medalanya.584167

Abstract

Aim: Tuberous sclerosis complex (TSC) is a multisystem genetic, autosomal-dominant disorder predisposing to multiple organ manifestations. The aim of this study is to determine TSC the frequency of findings including diagnostic and non-diagnostic criteria.

Patients and Metod: Thirty-five patients diagnosed with tuberous sclerosis complex were examined retrospectively. The diagnosis of the patients were evaluated according to the diagnostic criteria of TSC that were updated in 2012. As non-diagnostic criteria, we reviewed epilepsy, drug-resistant epilepsy, electroencephalography (EEG) types (focal, diffuse-multifocal and hypsarrhythmia) and TAND (TSC-associated neuropsychiatric disorders) (intellectual disability and/or autism and learning disability).

Results: Twenty-one cases (60%) presented with seizures, 9 cases (26%) with hypopigmented patches and 5 cases (14%) with cardiac rhabdomyomas. The most common finding with brain magnetic resonance imaging (MRI) was cortical tubers (85%). EEG examinations revealed diffuse and multifocal epileptic disorder in 5 (24%), focal epileptic disorder in 8 (38%), and hypsarrhythmia in 8 (38%) patients. 38% of the patients with epilepsy were diagnosed with refractory epilepsy. Severe intellectual disability and / or autism were detected in 11 (32%) patients. The number of patients with renal angiomyolipoma (p:0.001) were significantly higher in drug resistant epilepsy patients and also TSC-associated neuropsychiatric disorders (TAND) (p:0.001) rate was significantly higher in epilepsy patients.

Conclusion: The disease should be followed with a multidisciplinary approach. Although not included in the diagnostic criteria, it should be kept in mind that epilepsy, intellectual disability and neuropsychiatric disorders frequently accompany.

Keywords

Tuberoussclerosis Complex, Epilepsy, Intellectual Disability

Tüberoskleroz kompleksi tanılı hastaların değerlendirilmesi

Abstract

Amaç: Tüberoskleroz kompleksi (TSK) vücutta birçok organın tutulumu ile karakterize, otozomal dominant kalıtım gösteren genetik bir rahatsızlıktır. Bu çalışmada TSK tanı kriterlerinin ve tanı kriterleri dışındaki bulguların sıklığını belirlemek amaçlanmıştır.

Hastalar ve Yöntemler: TSK tanılı 35 hastanın verileri geriye dönük olarak incelendi. Hastaların tanısı, 2012 yılında güncellenen TSK'nin tanı kriterlerine göre değerlendirildi. Tanısal olmayan kriterler olarak; epilepsi, ilaca dirençli epilepsi, elektroensefalografi (EEG) tiplerini (fokal, diffüz-multifokal ve hiperaritmi) ve TAND'ı (TSC ile ilişkili nöropsikiyatrik bozukluklar) (zihinsel yetersizlik ve / veya otizm ve öğrenme yetersizliği) inceledik.

Bulgular: Yirmi bir hasta (%60) nöbet geçirme, 9 hasta (%26) hipopigmente lekelenmeler ve 5 hasta (%14) kardiyak rabdomiyomlar nedeniyle başvurmuştu. Beyin magnetik rezonans görüntüleme (MRG) ile en sık saptanan bulgu kortikal tüberlerdi (%85). Nöbet geçiren hastaların EEG incelemelerinde 5’inde (%24) yaygın ve multifokal epileptik bozukluk, 8’inde (%38) fokal epileptik bozukluk ve 8’inde (%38) hipsaritmi paterni saptandı. Epilepsi tanısı ile izlenen olguların %38’i dirençli epilepsi tanısına sahipti. Ağır derecede entelektüel yetersizlik ve/veya otizm 11 (%32) hastada saptandı. Dirençli epilepsi grubunda böbrek anjiomiyolipomaları olan hasta sayısı anlamlı olarak fazlaydı (p:0.001) ve aynı zamanda tüberoskleroz ile ilişkili nöropsikiyatrik bozuklukların oranı anlamlı olarak epilepsi grubunda yüksekti (p:0.001).

Sonuç: Hastalığın multidisipliner bir yaklaşım ile takip edilmesi gerekmektedir. Tanı kriterlerinde yer almasa da epilepsi, entelektüel yetersizlik ve nöropsikiyatrik bozuklukların sık eşlik ettiği akılda tutulmalıdır.

Keywords

Tüberoskleroz Kompleksi, Epilepsi, Entellektüel yetersizlik

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