Retrospective Radiological and Clinical Assessments of 16 Patients with Tuberous Sclerosis

INTRODUCTION: Tuberous sclerosis (TSC) is a multisystem, autosomal dominant disorder with a wide clinical spectrum. The aim of the present study was to review the clinical, radiological, and laboratory findings of our TSC cases in a retrospective manner and to compare them with the current literature.
METHODS: The clinical and radiological features of 16 patients diagnosed with TSC at Sütçü Ýmam University, Faculty of Medicine, Pediatric Neurology Outpatient Clinic were retrospectively assessed.
RESULTS: A total of 16 patients with a diagnosis of TSC were included in the study. The study included 9 (56.2%) male and 7 (43.7%) female patients. Of the 16 patients, 9 (56.2%) presented with convulsions, 4 (25%) with body rash, 2 (12.5%) with cardiac rhabdomyoma diagnosed at the newborn period, and 1 (6.25%) with perinatal asphyxia. Hypopigmented skin lesions were detected in all patients (100%). The most common finding on brain magnetic resonance imaging (MRI) was periventricular subependymal nodules (SNs) (n=12, 75%). In addition to the central nervous system and skin findings, 3 (18.7%) patients had cardiac involvement, and 1 (6.2%) patient had renal involvement. Three (18.7%) patients were detected with diffuse developmental delay, and 6 (37.5%) patients were detected with mental retardation.
DISCUSSION AND CONCLUSION: In line with the current literature, convulsions, hypopigmented skin lesions, mental retardation, and SNs on brain MRI were the most common signs.

Tuberosklerozlu 16 olgunun geriye dönük olarak radyolojik ve klinik deðerlendirilmesi

GÝRÝÞ ve AMAÇ: Tuberoskleroz, geniþ bir klinik spektruma sahip multisistem, otozomal dominant bir hastalýktýr. Tuberoskleroz tanýsý koyulan olgularýmýzýn klinik ve radyolojik bulgularýný geriye dönük olarak gözden geçirmek ve literatür ile karþýlaþtýrmaktýr.
YÖNTEM ve GEREÇLER: Sütçü Ýmam Üniversitesi Týp Fakültesi Çocuk Nöroloji Polikliniði’nde tuberoskleroz tanýsý koyulan 16 olgunun klinik ve radyolojik özellikleri geriye dönük olarak incelendi.
BULGULAR: Çalýþmaya toplam 16 tuberoskleroz hasta dahil edildi. Çalýþmaya alýnan hastalarýn 9’ü (%56.2) erkek ve 7’i (%43,7) kýz idi. 9 olgu (%56.2) konvülziyon geçirme, dört olgu (%25) ise vücudundaki lekeler, iki olgu (%12,5) yenidoðan döneminde kardiyak rabdomiyom saptanmasý, bir olgu (%6,25) perinatal asisfiksi nedeniyle baþvurmuþtu. Ciltte hipopigmente lezyonlar hastalarýn hepsinde (%100) saptandý. Beyin manyetik rezonans görüntülemede en sýk saptanan bulgu, periventriküler subepandimal nodüller 12 (%75) idi. Merkezi sinir sistemi ve cilt bulgularý yanýnda, üç olguda (%18,7) kalp, bir olguda (%6,2) böbrek tutulumu vardý. Üç olguda (%18,7) yaygýn geliþim geriliði, altý (%37,5) olguda mental retardasyon saptandý.
TARTIÞMA ve SONUÇ: Literatürlerle uyumlu olarak konvülziyon, hipopigmente deri lezyonu, mental retardation ve manyetik rezonans görüntülemede subepandimal nodüller (SN) en sýk görülen belirti ve bulgulardý.