Tuberous sclerosis complex: case report of a patient with epilepsy and chronic kidney disease

Abstract

Introduction Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with a variable clinical presentation and severity. It is a multisystem disease, characterized by hamartomas in various organs, often involving the skin and central nervous system. TSC affects around one in every 6,000 to 10,000 people with equal distribution among sex and ethnic groups. Cutaneous involvement is the most striking finding, enabling early diagnosis and intervention in such cases [1]. However, it has a great phenotypical variability making it difficult to recognize in some instances [2].