Abstract
BackgroundTuberous sclerosis complex (TSC) is a rare genetic disorder characterized by benign hamartomas in multiple organs of the body. Renal angiomyolipomas (AML) are commonly associated with TSC. They are mostly asymptomatic. But large and rapidly growing AMLs with the presence of an aneurysm cause symptoms and pose a life-threatening risk for hemorrhage.Case presentationOur patient is a 25-year-old female who presented to us as an undiagnosed case of tuberous sclerosis having a large abdominal mass. She fulfilled the clinical criteria required for the diagnosis of TSC. The CT scan revealed an 18 × 13 × 33 cm fat-containing lesion in the right kidney with an adjacent aneurysm measuring around 16 cm in diameter. Due to the large size of the AML and associated aneurysm, surgical exploration was mandated. On the contralateral kidney, multiple contrast-enhancing soft-tissue densities were present that appeared suspicious on radiology. So a percutaneous biopsy of those lesions was done. Fortunately, it had the same histopathology as an Angiomyolipoma. Nephrectomy of the right-sided kidney with AML has been done. The left-sided lesions that are less than 2 cm and asymptomatic are kept on close surveillance. Any change in size will prompt therapy with mTOR inhibitors.ConclusionWhen dealing with bilateral renal AML, it is important to adopt a conservative approach. When intervention is indicated, the least invasive strategy should be sought and enacted. Radical surgery should be the last resort.
Highlights
Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by benign hamartomas in multiple organs of the body
These findings were suggestive of a huge right-sided renal angiomyolipoma with a bleeding pseudoaneurysm
3 Discussion Tuberous sclerosis (TS) is a rare genetic disease with an autosomal dominant pattern of inheritance and arises from the inactivation of either TSC1 or TSC2 (16p13.3) genes [2]. These genes are responsible for the formation of a protein "hamartin" (TSC1) and "tuberin" (TSC2), which together form a tumor suppressor complex and limit abnormal cell proliferation
Summary
Our experience concludes that bilateral angiomyolipomas with such an atypical presentation should be investigated thoroughly and whenever in doubt, a biopsy should be done before making any management decisions.
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