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Indian J Hum Genet ; 2013 Jan; 19(1): 93-95
Article in English | IMSEAR | ID: sea-147644

ABSTRACT

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.


Subject(s)
Adult , Female , Humans , Infant , Neurocutaneous Syndromes/epidemiology , Rhabdomyoma/diagnosis , Rhabdomyoma/epidemiology , Spasms, Infantile/diagnosis , Spasms, Infantile/epidemiology , Tuberous Sclerosis/diagnosis , Tuberous Sclerosis/epidemiology
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