1.
Indian J Hum Genet
; 2013 Jan; 19(1): 93-95
Artigo
em Inglês
| IMSEAR
| ID: sea-147644
RESUMO
Tuberous sclerosis is a neurocutaneous syndrome characterized by abnormalities of both the integument and central nervous system. 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.