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Tuberous sclerosis complex Syndrome (TSCs) is a dominantly inherited disorderaffecting multiple organs; caused by mutations of either the TSC1 or TSC2 gene encodinghamartin andtuberinrespectively. It is characterized by the development of benign tumorsaffecting different body systems.It is important tomake an earlydiagnosis of TSC so that lifelong monitoring, earlyrecognition of complicationsand proactivetreatment can lower the morbidity and mortalityrates. We report a case of 3 Month old male infant in India with the features of Tuberous sclerosis complex syndrome like hypopigmented macules (>3), Rabdomyoma of heart,angiolipoma of the kidney, seizures since birth on background of family history of elder sister having (adenoma sebaceum, interact able seizures and mentally challenges since birth) also mother having similar adenoma sebaceum and seizures but due to family background of low economic status has not undergone further workup or evaluation. The central nervous system findings in this young baby were the first to be described, clinical findings of progressively increasing seizure episodes since day 6 of life and there are multiple hypopigmented macules over thigh, back and near axillary region.

international journal of science and research

Tuberous Sclerosis Complex Syndrome Cardiovascular and Renal Manifestation of Tuberous Sclerosis Complex and Summary of the Revised Diagnostic Criteria