Clinico Radiological Constellation of a Novel Neurocutaneous Syndrome- Tuberous Sclerosis- A Rare Case Report
Journal Title: Indian Journal of Applied Radiology - Year 2018, Vol 4, Issue 1
Abstract
Tuberous sclerosis complex is a genetic multisystem disorder. It is an autosomal disorder affecting multiple organs. It is characterised by the growth of multiple hamartomas in several organs such as brain, kidney, skin, uterus and liver. It is caused by mutation of either TSC1 or TSC2 gene encoding hamartin and tuberin respectively. We report a case of 50 years old female with tuberous sclerosis complex who presented with facial angiofibromas, angiomyolipomas of bilateral kidney, subependymal nodules and subependymal giant cell astrocytoma. The aim of the study is to present clinical and radiological features in a patient who exhibited multiple hamartomas of various organ systems.
Authors and Affiliations
Nikam V
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