Demographic, Clinical, and Radiographic Characteristics of Neurocutaneous Syndrome-Tuberous Sclerosis Complex

Abstract

To date, little is known on the prevalence, incidence, and characteristics, in patients with tuberous sclerosis complex. 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. The diagnosis of TSC is established using diagnostic criteria based on clinical and imaging findings. Routine screening and surveillance of patients with TSC is needed to determine the presence and extent of organ involvement, especially the brain, kidneys, and lungs, and identify the development of associated complications. As the treatment is organ specific, imaging plays a crucial role in the management of patients with TSC. 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 system.