Tuberous sclerosis with rhabdomyoma.
Indian J Hum Genet
;
2013 Jan; 19(1): 93-95
Artículo
en Inglés
| 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.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Rabdomioma
/
Espasmos Infantiles
/
Esclerosis Tuberosa
/
Femenino
/
Humanos
/
Adulto
/
Síndromes Neurocutáneos
/
Lactante
Idioma:
Inglés
Revista:
Indian J Hum Genet
Año:
2013
Tipo del documento:
Artículo
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