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?
(A) VHL syndrome (B) Autosomal dominant polycystic kidney disease (C) Tuberous sclerosis (D) Hereditary angiolipoma
(C) 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.