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What is A 48 years old female presents with seizure, recurrent gross hematuria and left flank abdominal pain. Abdominal CT reveals left perinephric hematoma with 3 cm angiomyolipoma along with multiple right renal angiomyolipoma measuring 1.5 to 6.5 cm. What would be the most probable diagnosis? and explain in detail?
Answer- C (Tuberous sclerosis)Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours.A combination of symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, lung disease, and kidney disease.Three types of brain tumours are associated with TSC:Giant cell astrocytomaCoical tubersSubependymal nodulesPeople with TSC are frequently also diagnosed psychiatric disorders: autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), anxiety disorder and depressive disorder.TSC patients have benign tumors of the kidneys called angiomyolipomas causing hematuria.