Tuberous sclerosis with rhabdomyoma.
Indian J Hum Genet
;
2013 Jan; 19(1): 93-95
Artigo
em Inglês
| 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:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Rabdomioma
/
Espasmos Infantis
/
Esclerose Tuberosa
/
Feminino
/
Humanos
/
Adulto
/
Síndromes Neurocutâneas
/
Lactente
Idioma:
Inglês
Revista:
Indian J Hum Genet
Ano de publicação:
2013
Tipo de documento:
Artigo
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