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Indian J Hum Genet ; 2013 Jan; 19(1): 93-95
Artículo en Inglés | IMSEAR | ID: sea-147644

RESUMEN

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.


Asunto(s)
Adulto , Femenino , Humanos , Lactante , Síndromes Neurocutáneos/epidemiología , Rabdomioma/diagnóstico , Rabdomioma/epidemiología , Espasmos Infantiles/diagnóstico , Espasmos Infantiles/epidemiología , Esclerosis Tuberosa/diagnóstico , Esclerosis Tuberosa/epidemiología
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