Tuberous sclerosis with rhabdomyoma.
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Date
2013-01
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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.
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Keywords
Infantile spasms, neurocutaneous, rhabdomyoma
Citation
Ajay V, Singhal Vikram, Venkateshwarlu Vardhelli, Rajesh S M. Tuberous sclerosis with rhabdomyoma. Indian Journal of Human Genetics. 2013 Jan; 19(1): 93-95.