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

Anindya Diwasasri (Universitas Gadjah Mada)
Retno Danarti
Retno Sutomo
Sunartini Hapsara

Paediatrica Indonesiana
Vol 60 No 1 (2020): January 2020

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.