A young female with cognitive impairment & history of Epilepsy - A case report

Abstract

Tuberous sclerosis (TS) Epiloia Or Bournervlle's Disease is a neuro-cutaneous syndrome characterised by abnormalities of both the integument and central nervous system (CNS) with an estimated frequency of 1/6000. It involves alterations to ectodermal and mesodermal cell differentiation and proliferation, causing benign hamartomatous tumors, neurofibromas and angiofibromas in the brain and other vital organs including the kidney, heart, eyes, lungs, skin and mucosa. It also affects the central nervous system and produces neurological dysfunctions such as seizures, mental retardation and behavior disorders.We report a case of a 18year/female 
brought to OPD of Department of Neuromedicine by her family members with complaint of family members with complain of repeated fight with family members always angry, moody and stubborn. She become irrational at times. She undergone ophthalmology examination which show Multiple retinal nodular hamartomas lesions in left eye, further MRI of Brain reviled Subependymal Giant Cell Astrocytoma of left Frontal Horn with white matter radiation lines suggestive of Tuberous Sclerosis Complex.