Angelman Syndrome With Papillary Urothelial Carcinoma: An Unusual Initial Presentation and Two Recurrences.
Faisal Altwijri, Osama Almubadel, Naif Alateeq, Faisal Alsaleh, Mohammad Jouma, Abdelmoniem Elgaili El-Tiraifi
Abstract
Open AccessBladder cancer, particularly urothelial carcinoma, is the most common malignancy of the urinary tract and is associated with several risk factors, including smoking, advanced age, and exposure to environmental toxins. Angelman syndrome is a rare neurodevelopmental disorder caused by a defect in the UBE3A gene, leading to characteristic neurological and behavioral manifestations. Although no clear association exists between these two conditions, we report a case of a 36-year-old man with Angelman syndrome who developed urothelial carcinoma of the urinary bladder despite the absence of identifiable risk factors or a family history of urothelial cancer, followed by two subsequent recurrences.