March 3, 2026Open Access

Case Report: A case of ruptured renal epithelioid angiomyolipoma leading to the diagnosis of TSC2/PKD1 contiguous gene syndrome

Puntos clave

Ruptured renal epithelioid angiomyolipoma indicates a potential diagnosis of TSC2/PKD1 syndrome in children.
Calcification and necrosis in renal tumors may prompt an early biopsy for accurate diagnosis.
Non-diagnostic sequencing for TSC requires complementary copy-number analysis via chromosomal microarray.
Identifying eAML ruptures can help in diagnosing renal cysts and related genetic disorders at a younger age.

Resumen

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 TSC2 deletions in TSC-featured patients and multiple renal cysts.

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