A Case Report of Tuberous Sclerosis in Two Generations
Chandrakala; Patil, S.; Guruprasad, K.Y.
Journal of the Association of Physicians of India 62(12): 60-64
2014
ISSN/ISBN: 0004-5772 PMID: 26259427 Document Number: 674701
Tuberous sclerosis complex [TSC] is a genetic multisystem disorder characterised by the growth of numerous hamartomas in several organs including the brain, heart, skin, eyes, kidney, lung and liver. The affected genes are TSC1 and TSC2 encoding hamartin and tuberin respectively. TSC has a wide range of severity and some people with this condition will only be mildly affected. At present it is impossible to accurately predict who will remain only mildly affected and who will be more severely affected by TSC. Even members of the same family can be affected differently. Many family members show signs of being carriers of the genes for the disease when carefully examined. This article reports a family with documented Tuberous sclerosis in two generations involving three members which is a rare entity.