Vol. 3, Issue 12, Part D (2017)

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. A 5 years old female child was presented with seizures. On examination she was found to be having neurocutaneous markers and systolic murmur as positive findings. Other examinations were with in normal limits. On investigations findings were suggestive of rhabdomyoma heart, on echocardiography, dysplastic cortex on MRI and hypsarrthmia on EEG. These findings were consistent with diagnosis of tuberous sclerosis.