P WU1, A WANG2,3
1Royal North Shore Hospital, Sydney,, Australia, 2The George Institute for Global Health, Sydney,, Australia, 3Faculty of Medicine and Health Sciences, Macquarie University, Sydney,, Australia
Background: Renal angiomyolipomas are a common feature of tuberous sclerosis complex (TSC), occurring in up to 80% of cases. Large renal angiomyolipomas are at high risk of spontaneous rupture and are associated with significant morbidity and mortality
Case Report: We report a case of a 21-year-old Chinese male who was initially diagnosed with polycystic kidney disease (PKD) in China with findings of multiple bilateral renal lesions and a significant family history of PKD on the paternal side. His past medical history includes febrile convulsions and epilepsy. He presented with intermittent bilateral flank pain. Repeat abdominal CT scans demonstrated innumerable bilateral angiomyolipomas with the largest measuring 8cm in diameter in the right lower pole which had significantly increased in size from previous imaging. In view of his symptomatic angiomyolipoma, he subsequently underwent a successful CT-guided selective embolization of this right-sided lesion. He then developed recurrent epilepsy. A brain MRI demonstrated right occipital tubers. Although chromosome microarray testing of 16p13.3 and TSC 1/2 gene returned normal results, based on the guidelines of having two major features of seizures with consistent changes on MRI brain and multiple (>2) angiomyolipomas, he was clinically diagnosed with TSC. His surveillance abdominal imaging 12 months following embolization showed the largest angiomyolipoma was reduced to 4cm. A trial of pharmacological treatment with mTOR-inhibitors would be considered if his angiomyolipoma enlarges again.
Conclusion: Approximately 10-25% of TSC patients have no mutations in TSC1/2 gene, which does not exclude the diagnosis. Continued surveillance of renal angiomyolipomas with abdominal imaging every 1–3 years is recommended to monitor disease stability. Management of renal angiomyolipomas in TSC includes use of mTOR-inhibitors or surgical intervention of selective embolization.
I am a PGY2 doctor in training with aspirations to pursue physician training and specialise in an Oncology career.
I have a particular interest in genetics and molecular biology of genitourinary and gastrointestinal malignancies.