Case Report
Copyright ©The Author(s) 2017. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastrointest Pathophysiol. May 15, 2017; 8(2): 87-92
Published online May 15, 2017. doi: 10.4291/wjgp.v8.i2.87
Differential diagnosis in ulcerative colitis in an adolescent: Chronic granulomatous disease needs extra attention
Daniel Kotlarz, Odul Egritas Gurkan, Zehra Sule Haskologlu, Ozgur Ekinci, Aysel Aksu Unlusoy, Neslihan Gürcan Kaya, Jacek Puchalka, Cristoph Klein, Buket Dalgic
Daniel Kotlarz, Jacek Puchalka, Cristoph Klein, Department of Pediatrics Dr. Von Hauner Children’s Hospital, Ludwig-Maximilians-University, 80539 Munich, Germany
Odul Egritas Gurkan, Aysel Aksu Unlusoy, Neslihan Gürcan Kaya, Buket Dalgic, Department of Pediatric Gastroenterology, Gazi University School of Medicine, 06510 Ankara, Turkey
Zehra Sule Haskologlu, Department of Pediatric Immunology and Allergy, Ankara University School of Medicine, 06510 Ankara, Turkey
Ozgur Ekinci, Department of Pathology, Gazi University Faculty of Medicine, 06510 Ankara, Turkey
Author contributions: All authors contributed to this manusc ript.
Institutional review board statement: This case report was exempt from the Institutional Review Board standards at Gazi University in Ankara.
Informed consent statement: Informed consent of the subject is taken.
Conflict-of-interest statement: None to declare.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
Correspondence to: Odul Egritas Gurkan, MD, Department of Pediatric Gastroenterology, Gazi University School of Medicine, Mevlana Boulevard, Besevler, 06510 Ankara, Turkey.
Telephone: +90-31-22024423 Fax: +90-31-22024423
Received: November 22, 2016
Peer-review started: November 24, 2016
First decision: December 15, 2016
Revised: March 11, 2017
Accepted: April 6, 2017
Article in press: April 10, 2017
Published online: May 15, 2017

Chronic granulomatous disease (CGD) is a primary immune deficiency that is commonly diagnosed under the age of 5 years (95%) and is rarely seen in adulthood. CGD may manifest as inflammatory bowel disease (IBD) in childhood. Without proper diagnosis, these patients may be monitored for years as IBD; some may even be regarded as steroid-resistant ulcerative colitis (UC) and end up having a colectomy. In this case report, we described a patient who had been followed-up for years as UC and subsequently underwent colectomy, but was finally diagnosed in adulthood as primary immune deficiency.

Keywords: Ulcerative colitis, Chronic granulomatous disease, Inflammatory bowel disease, Immunodeficiency, Childhood

Core tip: In the context of current knowledge, monogenetic diseases are at the basis of early-onset inflammatory bowel disease (IBD). Genetic and immunological studies on this subject have gained momentum in recent years. Chronic granulomatous disease (CGD) is an immune deficiency and may manifest itself as IBD. In an adolescent patient, CGD may present with clinical signs of IBD without evidence of immune deficiency. It should be kept in mind that CGD in adolescents may extend to adulthood.