Late‐Onset Diagnosis of Tuberous Sclerosis Complex Revealed by Renal Angiomyolipoma: A Case Report

ABSTRACT

Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder characterized by multisystem hamartomas caused by pathogenic variants in TSC1 or TSC2. It is typically diagnosed in childhood, most often because of neurological or dermatological manifestations. Diagnosis in late adulthood is uncommon and may pose significant diagnostic challenges. We report the case of a 59‐year‐old woman who presented with lumbar pain. Abdominal computed tomography (CT) revealed multiple bilateral renal angiomyolipomas (AMLs), more prominent in the right kidney. Further evaluation identified multiple facial angiofibromas and a periungual fibroma. Renal function was preserved, and no neurological, pulmonary, cardiac, or ophthalmological involvement was detected. Based on the International TSC Consensus diagnostic criteria, the diagnosis of TSC was established on clinical grounds. The patient underwent right renal tumorectomy without complications, and histopathology confirmed angiomyolipoma. Sirolimus therapy was initiated 3 months later to reduce the risk of progression of residual lesions. This case highlights that TSC may remain unrecognized until late adulthood and that renal angiomyolipoma can be the presenting feature. Clinicians should systematically evaluate adults with angiomyolipoma for underlying TSC, even in the absence of overt neurological signs. Early recognition is essential to ensure appropriate surveillance and prevent potentially serious renal and systemic complications.