Tuberous sclerosis with rhabdomyoma

We present a case of tuberous sclerosis with rhabdomyoma in the heart. This was a 1½-year-old female child with infantile spasms and rhabdomyoma in heart with mother having neurocutaneous markers of tuberous sclerosis. Magnetic resonance imaging brain and electroencephalography findings were consistent with diagnosis.

Source: Indian Journal of Human Genetics - June 4, 2013 Category: Genetics & Stem Cells Authors: V AjayVikram SinghalVardhelli VenkateshwarluSM Rajesh Source Type: research