A Clinical Challenge Case of Bilateral Giant Renal Angiomyolipoma Associated With Tuberous Sclerosis Complex

Abstract

A 27-year-old female was referred to the urology clinic because of an incidentally found bilateral giant renal angiomyolipoma associated with tuberous sclerosis complex (TSC-RAML) discovered during workup for menorrhagia. Six years ago, she began to develop a bulging belly, which she thought was due to obesity. She had multiple angiofibromas on her face, multiple toenail fibromas on her toes (Fig. 1). Whole-genome sequencing analysis of plasma revealed pathogenic mutation of TSC2 gene (base change: C.1513C >T;amino acid change: p.R505X; Mutation abundance: heterozygous; GloriousMed Technology, China).