Delayed TSC Diagnosis Presenting as End-Stage Renal Disease With Renal and Hepatic Angiomyolipoma: Case Report and Review

Abstract

Tuberous sclerosis complex (TSC) is a rare and complex autosomal dominant disease. Many patients with TSC may remain undiagnosed for years due to its widespread and heterogeneous clinical presentation, with only 1% of TSC patients developing end-stage renal disease (ESRD). This case report presents a 50-year-old woman newly diagnosed with TSC due to ESRD. She had facial lesions in childhood, was diagnosed with renal angiomyolipoma (AML) in adulthood, and her daughter died of TSC-related epilepsy, but she was not diagnosed with TSC until the age of 50 when admitted to a nephrology unit for renal dysfunction. Additionally, the patient had multiple rare concurrent lesions, including ESRD, pulmonary lymphangiomyomatosis (PLAM), renal AML, and hepatic AML. To raise clinicians' awareness of the coexistence of renal and pulmonary lesions in TSC, 47 rare TSC case reports were reviewed and their clinical features analyzed. This case and literature review highlight the overlapping spectrum of renal AML, PLAM, and TSC, underscoring the importance of a systemic diagnostic approach for patients with these lesions. Proactive investigation of TSC can facilitate early intervention and improve outcomes, particularly in preventing progression to ESRD.