Tuberous Sclerosis Complex Unveiled: Presentation of Bilateral Enlarged Diffuse Fatty Kidneys

Abstract

Tuberous Sclerosis (TS), which is also known as Tuberous sclerosis complex or Bourneville disease, is a rare genetic autosomal dominant disorder with multiorgan involvement. It is a neurocutaneous syndrome or phakomatosis spectrum, characterized by the presence of multiple hamartomas and benign or malignant neoplasms throughout the body, typically in the brain, skin, retina, kidneys, heart and lung. Mutations in Tuberous Sclerosis Complex1 (TSC1) or Tuberous Sclerosis Complex2 (TSC2) genes contribute to the development of these lesions. Despite advancements in treatment, the prognosis for TS remains poor, with approximately 40% of patients succumbing by the age of 35. This abstract is about a young woman presented with bilateral enlarged and abnormally hyperechoic kidneys with loss of normal renal architecture and appeared as retroperitoneal masses on ultrasonography (USG). Subsequent Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) confirmed the presence of fatty parenchyma secondary to multiple bilateral angiomyolipoma’s, along with subependymal hamartomas on MRI of the brain, thus aiding in the definitive diagnosis of tuberous sclerosis complex.