Tuberous Sclerosis Complex in a 17-month-old: A Case Report

Tuberous sclerosis complex is a rare autosomal dominant genetic disorder that affects multiple organ systems, primarily affecting the central nervous system. It develops with pathogenic mutation in tumour suppressor genes i.e. Sclerosis Complex 1 or 2 which codes for protein hamartin and tuberin leading to unopposed hyperactivation of mammalian target rapamycin signalling pathway. presents triad facial angiofibroma, intellectual disability, epilepsy. We present case 17-month female toddler abnormal body movement loss consciousness later developing into generalised jerky movements. On magnetic resonance imaging, diagnosis tuberous was made. The patient underwent symptomatic management anti-epileptic. As seizures these cases are subtle, they remain undiagnosed long time delays refractory seizures.