Urothelial Carcinoma in a 22-Year-Old Female with Angelman Syndrome

Urothelial Carcinoma in a 22-Year-Old Female with Angelman Syndrome

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 wi...

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Main Authors: Jessica Pugh, R. Keith Huffaker
Format: Article
Language:English
Published: Hindawi Limited 2017-01-01
Series:Case Reports in Urology
Online Access:http://dx.doi.org/10.1155/2017/9298565
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spelling doaj-7feb53b2962f4e8f828d7eca774fa8902020-11-25T00:29:09ZengHindawi LimitedCase Reports in Urology2090-696X2090-69782017-01-01201710.1155/2017/92985659298565Urothelial Carcinoma in a 22-Year-Old Female with Angelman SyndromeJessica Pugh0R. Keith Huffaker1Department of Obstetrics and Gynecology, Quillen College of Medicine, East Tennessee State University, Johnson City, TN, USADivision of Female Pelvic Medicine and Reconstructive Surgery, Department of Obstetrics and Gynecology, Quillen College of Medicine, East Tennessee State University, Johnson City, TN, USAA 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.http://dx.doi.org/10.1155/2017/9298565
collection DOAJ
language English
format Article
sources DOAJ
author Jessica Pugh
R. Keith Huffaker
spellingShingle Jessica Pugh
R. Keith Huffaker
Urothelial Carcinoma in a 22-Year-Old Female with Angelman Syndrome
Case Reports in Urology
author_facet Jessica Pugh
R. Keith Huffaker
author_sort Jessica Pugh
title Urothelial Carcinoma in a 22-Year-Old Female with Angelman Syndrome
title_short Urothelial Carcinoma in a 22-Year-Old Female with Angelman Syndrome
title_full Urothelial Carcinoma in a 22-Year-Old Female with Angelman Syndrome
title_fullStr Urothelial Carcinoma in a 22-Year-Old Female with Angelman Syndrome
title_full_unstemmed Urothelial Carcinoma in a 22-Year-Old Female with Angelman Syndrome
title_sort urothelial carcinoma in a 22-year-old female with angelman syndrome
publisher Hindawi Limited
series Case Reports in Urology
issn 2090-696X
2090-6978
publishDate 2017-01-01
description 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.
url http://dx.doi.org/10.1155/2017/9298565
work_keys_str_mv AT jessicapugh urothelialcarcinomaina22yearoldfemalewithangelmansyndrome
AT rkeithhuffaker urothelialcarcinomaina22yearoldfemalewithangelmansyndrome
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