Clinical features and imaging diagnosis of tuberous sclerosis / 西安交通大学学报(医学版)

ABSTRACT

【Objective】 To explore the clinical features and the imaging diagnosis value of tuberous sclerosis. 【Methods】 We retrospectively analyzed the clinical data and imaging findings of 22 patients with tuberous sclerosis clinically diagnosed in our hospital. 【Results】 There were 12 male and 10 female patients, with the mean age of 7.3 years. Among them, 2 patients had a family history; 3 had unclear symptoms and the rest 19 ones except 1 had facial skin rashes for two years, which led to seek for medical help, and the other 18 had epilepsy attack, including 4 with mental retardation. All the 22 patients had characteristic subependymal nodules, including 21 patients with multiple abnormal changes in the bilateral cerebral hemispheres. There were 12 cases with abnormal skin appearance, 2 cases accompanied by facial cortical adenoma, 1 case with right subependymal giant cell astrocytoma, 1 case with bilateral ependymoma, 1 case with Dandy-Wallker malformation, 1 case with right renal duplication, 2 cases with renal hamartoma, 1 case with multiple renal nodules, 1 case with congenital patent ductus arteriosus, 2 cases with cardiac rhabdomyosarcoma, 1 case with multiple hepatic hamartoma, and 2 cases with multiple sclerotin sclerosis changes. 【Conclusion】 The clinical manifestations of tuberous sclerosis are complex and variable, and there are certain imaging characteristics associated with multi-organ involvement. Familiarity with the characteristics and imaging manifestations of lesions in various systems can make the clinical diagnosis more concise and accurate.