Tuberous sclerosis complex in a child: diagnosis and management

Prastiya Indra Gunawan (Department of Child Health, Airlangga University Medical School/Dr. Soetomo Hospital, Surabaya, East Java)
Aminuddin Harahap (Department of Child Health, Airlangga University Medical School/Dr. Soetomo Hospital, Surabaya, East Java)
Darto Saharso (Department of Child Health, Airlangga University Medical School/Dr. Soetomo Hospital, Surabaya, East Java)

Paediatrica Indonesiana
Vol 50 No 3 (2010): May 2010

Tuberous sclerosis complex (TSC) is a multisystem, autosomal dominant disorder affecting children and adults, resulted from mutations in one of two genes, TSC1 (encoding hamartin) or TSC2 (encoding tuberin) genes located on chromosomes 9 and 16 respectively.1,2 Synonyms of TSC are Bourneville Pringle syndrome, epiloia, or tuberosclerosis. This disorder is characterized by seizures, mental disability, and small noncancerous tumors on the skin and other body tissues, such as brain, eye, lung, and kidney. The classic triad are seizures, mental retardation, and cutaneous angiofibromas.3