Abstract
A 22-year-old nulligravid white female with Angelman syndrome was noted to have a 4-month history of premenstrual nausea, vomiting, and abdominal pain. She had an echogenic focus in her bladder noted on ultrasound. She was diagnosed with low grade urothelial carcinoma after cystoscopic evaluation with biopsy and was sent to urology for further treatment. Urothelial carcinoma is rare in individuals younger than age 40. Patients may present with gross hematuria. There is often a delay in diagnosis in younger individuals with different genetic mutations noted upon diagnosis.
Highlights
Urothelial carcinoma is typically a disease found in individuals older than age 40
Limited information is available regarding a link between Angelman syndrome and urothelial carcinoma
Angelman syndrome is classified as an imprinting disorder
Summary
Received 2 February 2017; Revised 30 March 2017; Accepted 3 April 2017; Published 11 April 2017. A 22-year-old nulligravid white female with Angelman syndrome was noted to have a 4-month history of premenstrual nausea, vomiting, and abdominal pain. She had an echogenic focus in her bladder noted on ultrasound. She was diagnosed with low grade urothelial carcinoma after cystoscopic evaluation with biopsy and was sent to urology for further treatment. Urothelial carcinoma is rare in individuals younger than age 40. There is often a delay in diagnosis in younger individuals with different genetic mutations noted upon diagnosis
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