TY - JOUR
T1 - Tuberous sclerosis with rhabdomyoma
AU - Ajay, V.
AU - Singhal, Vikram
AU - Venkateshwarlu, Vardhelli
AU - Rajesh, S. M.
PY - 2013/1/1
Y1 - 2013/1/1
N2 - 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 11/2-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.
AB - 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 11/2-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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U2 - 10.4103/0971-6866.112912
DO - 10.4103/0971-6866.112912
M3 - Article
AN - SCOPUS:84879633469
SN - 0971-6866
VL - 19
SP - 93
EP - 95
JO - Indian Journal of Human Genetics
JF - Indian Journal of Human Genetics
IS - 1
ER -