Retrospective radiological and clinical of assessment 16 patients with Tuberous sclerosis

Abstract

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 İmam 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.