Tuberous sclerosis: Case presentation and review of brain mri findings

Abstract

We present the case of a 15-year-old female patient who attended the emergency service in childhood because she presented episodes of infantile spasms. The presence of hypochromic macules, intracardiac masses and characteristic findings on the brain MRI led to establish the diagnosis of tuberous sclerosis, a neurocutaneous syndrome with a frequency of about 1/6000 cases. The clinical presentation of many of these patients includes mental retardation and refractory seizures, that are the consecuence of central nervous system involvement characterized by the presence of subependymal nodules and cortical tubers. The increased incidence of neoplasms that affect different organs such as the kidney and the heart is also important in these patients. This is why, based on the clinical case, we briefly explain the pathophysiology and clinical findings of patients with tuberous sclerosis and review in detail the changes observed brain MRI, which are essential for the diagnosis and follow-up.