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A difficult case of Crohn's disease?
Neville Azzopardi1, Pierre Ellul, Thomas Attard
1Department of Medicine, Mater Dei Hospital, Tal Qroqq, Malta. oldcharm@onvol.net
BMJ Case Reports
|June 19, 2012
Summary
A patient with recurrent infections and diarrhea presented with symptoms mimicking Crohn's disease. A nitroblue tetrazolium (NBT) test suggested Chronic Granulomatous Disease (CGD), complicating treatment due to sepsis risk with immunosuppressants.
Area of Science:
- Immunology
- Gastroenterology
- Genetics
Background:
- Recurrent infections and chronic diarrhea can indicate underlying immune deficiencies.
- Distinguishing inflammatory bowel disease from other granulomatous conditions is crucial for appropriate management.
Observation:
- A young female patient experienced recurrent infections and profuse diarrhea.
- Previous nitroblue tetrazolium (NBT) testing revealed absent dye reduction.
- Clinical, biochemical, radiological, and endoscopic evaluations suggested Crohn's disease.
Findings:
- The NBT test results were highly indicative of Chronic Granulomatous Disease (CGD).
- CGD can present with granulomatous colitis, mimicking Crohn's disease.
- Immunosuppressive therapy for the presumed condition led to recurrent sepsis.
Implications:
- This case highlights the importance of considering CGD in patients with granulomatous colitis and recurrent infections.
- Diagnostic challenges arise when symptoms overlap between immune deficiencies and inflammatory bowel disease.
- Careful management is required to balance immunosuppression and infection risk in CGD patients presenting with gastrointestinal symptoms.
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