1Department of Pediatric Nephrology, Mashhad University of Medical Sciences, Iran 2Department of Pediatric Neurology, Mashhad University of Medical Sciences, Iran 3Department of Medicine, Mashhad University of Medical Sciences, Iran 4Department of Pathology, Mashhad University of Medical Sciences, IranFulltext PDF
Background: The TSC1 mutated gene, hamartin, and the TSC2 gene, tuberin, cause tuberous sclerosis, the autosomal dominant tumor syndrome. The angiomyolipoma of the kidney is a benign tumor that often happens along with tuberous sclerosis. Large renal angiomyolipoma’s associated with tuberous sclerosis are in danger of fatal hemorrhage. This study reported a case with an unexpected large size of renal angiomyolipoma’s associated with tuberous sclerosis. Case Presentation: We report a girl aged 5 years and 9 months old with tuberous sclerosis who referred to nephrology clinic due to abdominal pain. Physical examination revealed a large mass in the right flank. Kidney ultrasound reported a large mass with approximate size of 90 mm × 60 mm in the right kidney, and abdominal CT scan also showed a non-hemogenic solid mass in the right kidney with size of 91 mm × 68 mm × 67 mm, was highly suspected for Wilms' tumor. Since the large size of lesion and subsequent suspension for malignant tumor, partial nephrectomy was performed and through kidney biopsy an unexpected angiomyolipoma was diagnosed. Conclusion: Considering extended studies in various populations with tuberous sclerosis and renal angiomyolipoma, this case is challenging and intriguing since she was the youngest one among patients with necessity of nephrectomy due to the large size of lesion and radiologic findings suggestive of Wilms’ tumor.
Tuberous sclerosis; Renal angiomyolipoma; Children; Nephrectomy
Naseri M, Ashrafzadeh F, Ghalibafan F, Dehghanian P. The Identification of a Girl with Tuberous Sclerosis and an Unexpected Large Sized Renal Angiomyolipoma: A Case Report and Literature Review Study. Ann Clin Case Rep. 2020; 5: 1876.