Bourneville Tuberous Sclerosis and Brain MRI: a Case Report

Abstract

Summary: Tuberous sclerosis (TS) is a rare genetic disease of autosomal-dominant transmission. Mutations in either the tuberous sclerosis complex 1 (TSC1) or tuberous sclerosis complex 2 (TSC2) genes result in hamartomas affecting many organs, such as the brain, heart, kidneys, skin, lungs and liver. We report the observation of a 17-year-old girl with facial angiofibromas, hypo-pigmented skin lesions on the lower back and back of the right wrist and a history of seizures. The patient was admitted to the emergency department for treatment-resistant status epilepticus and was referred to our training for magnetic resonance imaging (MRI) of the brain. Brain MRI revealed subependymal nodules, cortical tubercles, and white matter abnormalities.