ArticleFrontiers in pediatrics2026
Case Report: A case of ruptured renal epithelioid angiomyolipoma leading to the diagnosis of TSC2/PKD1 contiguous gene syndrome.
Article in Frontiers in pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Tuberous sclerosis complex (TSC) is frequently complicated by renal lesions, including angiomyolipoma (AML), renal cysts, and renal cell carcinoma (RCC). Large deletions involving adjacent Case presentation: A 13-year-old boy with hypomelanotic macules and facial angiofibromas presented with acute abdominal pain and fever; CT revealed a ruptured heterogeneous 5-cm right renal cystic, and multiple cysts. Robot-assisted partial nephrectomy confirmed epithelioid angiomyolipoma (eAML) via pathology and immunohistochemistry (cathepsin K+, CD10/p53 partial+, others negative). Neuroimaging and ophthalmology revealed TSC features; chromosomal microarray identified an ∼882-kb 16p13.3 deletion encompassing Conclusions: PKDTS may manifest in childhood as an eAML rupture. In pediatric TSC, eAML or RCC should not be excluded based on age. Atypical findings (e.g., calcification or necrosis) warrant early biopsy; non-diagnostic sequencing requires copy-number analysis (e.g., chromosomal microarray) to detect
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