Long-term follow up of a tuberous sclerosis patient: Evaluation of anti-epileptic drugs and self-management support therapy

Tuberous sclerosis (TSC) (OMIM 191100) is an inherited, autosomal dominant disorder affecting multiple organ systems.¹ A genetic mutation in one of the tumor suppressor gene (TSG) alleles causes tumor growth in various organ systems. Tuberous sclerosis can be found in people of all races, and does not differ in men and women, with an incidence 1 in 6,000 births and prevalence of 1 in 20,000.^1-3 Although the prevalence is quite high, diagnosing this disorder is often difficult and delayed due to diverse disease manifestations and varied age at onset. Tuberous sclerosis (TSC) is associated with significant disease burden and has a considerable impact on quality of life.⁴ Individuals with tuberous sclerosis need multidisciplinary treatment by experts because of the various clinic spectrums. To date, no single therapy can cure tuberous sclerosis. Management of tuberous sclerosis is done with the aims of helping patients achieve better quality of life, minimizing complications, and avoiding side effects of drugs.^3-6 With early detection, aggressive monitoring, and handling emerging symptoms, individuals with tuberous sclerosis may have longer life expectancy and learn independent survival skills.^3,6-8 Here we present an 18-month follow-up case report on a patient with tuberous sclerosis and intractable epilepsy, focusing on medical aspects and quality of life.