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Case Reports
. 2017 May 15;8(2):87-92.
doi: 10.4291/wjgp.v8.i2.87.

Differential diagnosis in ulcerative colitis in an adolescent: Chronic granulomatous disease needs extra attention

Affiliations
Case Reports

Differential diagnosis in ulcerative colitis in an adolescent: Chronic granulomatous disease needs extra attention

Daniel Kotlarz et al. World J Gastrointest Pathophysiol. .

Abstract

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: Childhood; Chronic granulomatous disease; Immunodeficiency; Inflammatory bowel disease; Ulcerative colitis.

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Conflict of interest statement

Conflict-of-interest statement: None to declare.

Figures

Figure 1
Figure 1
The medical treatment and follow-up of the patient. UC: Ulcerative colitis.
Figure 2
Figure 2
Histopathologic appearance of colonic mucosa.
Figure 3
Figure 3
Perianal dermatitis and impaired perianal wound healing.
Figure 4
Figure 4
Two lumens visualized during ileoscopy.
Figure 5
Figure 5
Nitroblue tetrazolium test. A: Neutrophils from a patient with CGD fail to reduce the NBT dye and appear clear; B: Normal (unaffected) cells reduce the NBT dye and stain blue/purple. CGD: Chronic granulomatous disease; NBT: Nitroblue tetrazolium test.
Figure 6
Figure 6
Flow cytometry-based dihydrorhodamine test. DHR: Dihydrorhodamine.

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