Tubereuze sclerose : Een case report en samenvatting van de literatuur (Artikelen)

Tuberous sclerosis (TS) is a genetic multisystem disorder with variable clinical expression caused by hamartomas in several organs such as skin, brain, kidneys and heart. The combination of epilepsy and skin abnormalities is typical and often present in TS. Familiarity with the clinical features is necessary to diagnose TS. Multidisciplinary follow-up is indicated to prevent severe and possibly life-threatening complications. We describe a young girl with atypical epileptic fits and skin abnormalities. She was diagnosed with TS caused by a TSC1-mutation. Her father and one of her sisters were also diagnosed with TS.