Tuberous sclerosis complex in a child: diagnosis and management

Tuberous sclerosis complex in a child: diagnosis and management

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 Pringl...

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Bibliographic Details
Main Authors: Prastiya Indra Gunawan, Aminuddin Harahap, Darto Saharso
Format: Article
Language:English
Published: Indonesian Pediatric Society Publishing House 2010-06-01
Series:Paediatrica Indonesiana
Subjects:
tuberous sclerosis
autusomal dominant disorder
seizure
mental retardation
cutaneous angiofibromas
Online Access:https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/826
Description
Summary: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
ISSN:0030-9311
2338-476X

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