A young girl with tuberous sclerosis presenting with recurrent episodes of convulsion & right sided hemiparesis

Abstract

Tuberous Sclerosis Complex (TSC) is a neurocutaneous syndrome manifested by involvement of multiple system including CNS,kidney,skin,heart,lungs & eye. It is usually characterized by triad of skin lesions (96%),seizures (90%) & mental retardation (70%). Most common lesions associated with TSC are angiofibroma of face,ashleaf macules,shagreen patches,subependymal nodules,cortical tubers,mental retardation & angiomyolipoma of kidney. Here we report a case of a 14 years old girl who presented with recurrent episodes of convulsion,mental retardation & progressive weakness of right side of body. We investigated the patient to find out the etiology of her illness. After cranial imaging & other necessary investigations several major & minor criteria were established,which helped us to reach the final diagnosis.