Indian Journal of Human Genetics
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Year : 2013  |  Volume : 19  |  Issue : 1  |  Page : 93-95

Tuberous sclerosis with rhabdomyoma

Department of Pediatrics, Kasturba Medical College, Manipal University, Mangalore, India

Correspondence Address:
Vikram Singhal
Department of Pediatrics, KMC Hospital, Attavar, Mangalore - 575 001
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0971-6866.112912

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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.

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