Tuberous Sclerosis - A Rare Case Presentation

Tuberous sclerosis is a rare case presentation. A 24 year old female patient presented to our hospital with suspected renal angiomyolipoma for further evaluation and management. CECT thorax, abdomen and pelvis with renal dynamic study was done. On examination, presence cutaneous lesions on face, periungual fibroma was noted. Patient also revealed history of similar lesions in her siblings and mother. Patient was further investigated, HRCT thorax and NCCT brain, MRI brain was done to look for other characteristic lesions in lung, brain to rule out tuberous sclerosis complex. Presence of renal angiomyolipoma, multiple subcortical and subependymal calcified lesion, dermal lesions confirmed the diagnosis of tuberous sclerosis. Introduction: Tuberous sclerosis also known as Bourneville disease is a neurocutaneous syndrome characterised by formation of variety of hamartomatous lesions in several organs. Patient generally present with seizure, intellectual disability and adenoma sebaceum. This classical triad is uncommonly seen therefore radiological examination plays important role in diagnosis and treatment of tuberous sclerosis. Case Report: A 24 year old female patient presented to our hospital with suspected renal angiomyolipoma for further evaluation and management. CECT thorax, abdomen and pelvis with renal dynamic study was done. On examination, presence cutaneous lesions on face, periungual fibroma was noted. Patient also revealed history of similar lesions in her siblings and mother. Patient was further investigated, HRCT thorax and NCCT brain, MRI brain was done to look for other characteristic lesions in lung, brain to rule out tuberous sclerosis complex. Presence of renal angiomyolipoma, multiple subcortical and subependymal calcified lesion, dermal lesions confirmed the diagnosis of tuberous sclerosis. Conclusion: On the basis of various clinical and radiological features diagnosis is made as definite, possible and probable tuberous sclerosis.