Tuberous sclerosis presenting as new onset seizures in middle age

ABSTRACT Tuberous sclerosis (tuberous sclerosis complex) is rare hereditary disorder characterised by lesions in the brain (cortical tubers), skin (Ash leaf macules, Shagreen patch, skin tags), retina and various other organs. It manifests usually in childhood with seizures and mental retardation. Presentation with classical features favours easy and early diagnosis. However, it is a disease of variable expression with a broad range of clinical phenotypes. Incomplete forms (forme fruste) with atypical presentation can occur leading to missed or late diagnosis. We report a middle aged male patient who presented with new onset seizures. The characteristic skin lesions and MRI picture led to a diagnosis of tuberous sclerosis. Absence of common associations such as mental retardation and renal involvement were other features. Copyright © 2014, Indian Journal of Medical Specialities. Published by Reed Elsevier India Pvt. Ltd. All rights reserved.