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Spontaneous retroperitoneal hemorrhage due to massive rupture of renal angiomyolipoma treated with nephrectomy: an unusual onset of tuberous sclerosis complex. | LitMetric

AI Article Synopsis

  • Tuberous sclerosis complex (TSC) is a genetic disorder featuring non-cancerous tumors in various organs, with key symptoms including seizures, facial angiofibromas, and intellectual disabilities.
  • About 40-80% of TSC patients develop renal angiomyolipomas, which are typically small and asymptomatic but can occasionally grow large and cause serious complications like internal bleeding.
  • The case study highlights a 28-year-old woman who experienced severe abdominal pain and anemia from a hemorrhaging renal angiomyolipoma, ultimately leading to her diagnosis of TSC after a nephrectomy.

Article Abstract

Tuberous sclerosis complex (TSC) is a genetic and systemic disorder characterized by benign hamartomatous tumors that involve multiple organ systems. The classical clinical triad of TSC consists of seizure, adenoma sebaceum (facial angiofibromata) and mental retardation. Renal angiomyolipomas are documented in approximately 40 - 80% of tuberous sclerosis patients and usually are small and asymptomatic. Less frequently nodules are large and lead to retroperitoneal hemorrhage. In these cases diagnosis can be difficult but definitive only after the histological examination or the systemic investigation of other possible tissue involvements. We describe the case of a 28 year old woman who came to the emergency department with acute postprandial abdominal pain and severe anemia due to hemorrhagic renal angiomyolipoma treated by nephrectomy in whom the following examination led to the diagnosis of TSC.

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Source
http://dx.doi.org/10.5414/cnp71441DOI Listing

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