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Symptomatic kidney involvement in a child with tuberous sclerosis
M Ozlem Hergüner1, Aysun Karabay-Bayazit, Aytül Noyan
1Department of Pediatrics, Cukurova University Faculty of Medicine, Adana, Turkey.
The Turkish Journal of Pediatrics
|April 13, 2004
Summary
Tuberous sclerosis complex, a genetic disorder, can affect kidneys. This case highlights a rare unilateral renal angiomyolipoma in a nine-year-old girl, presenting with pain and hematuria.
Area of Science:
- Genetics and Oncology
- Pediatric Nephrology
Background:
- Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by abnormal cell growth in multiple organs.
- Kidney involvement in TSC is common but typically presents later in life and is often asymptomatic and bilateral.
Observation:
- This report details a rare case of unilateral renal angiomyolipoma in a nine-year-old girl diagnosed with TSC.
- The patient presented with significant symptoms of flank pain and macroscopic hematuria, which are uncommon for pediatric TSC kidney involvement.
Findings:
- The case demonstrates a unilateral renal angiomyolipoma, a benign tumor, as the presenting manifestation of TSC in a young child.
- The symptomatic nature and unilateral presentation are atypical for pediatric renal TSC.
Implications:
- This case underscores the importance of considering TSC in pediatric patients with unexplained renal masses or hematuria, even if symptoms are atypical.
- Early diagnosis and management of renal angiomyolipomas in TSC can prevent complications and improve patient outcomes.