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Steven Liu, Debra Abrams, Robert N. Baldassano, Kathleen E. Sullivan, Prevalence of chronic granulomatous disease in pediatric patients diagnosed with Crohn's disease, Inflammatory Bowel Diseases, Volume 14, Issue 5, 1 May 2008, Pages 727–728, https://doi.org/10.1002/ibd.20331
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To the Editor:
A 5-year-old female presented to our clinic with a 3-month history of bloody diarrhea and weight loss. She recently had undergone an incision and drainage of a perianal abscess, and was referred to us for an evaluation for inflammatory bowel disease. Besides the perianal abscess, she had no prior history of infections. Her physical exam was significant for multiple perianal skin tags, and her colonoscopy grossly demonstrated inflammation in her colon. Her colon biopsies showed a chronic active colitis with the presence of granulomas, and she was given the diagnosis of Crohn's disease (CD). She responded well to a course of corticosteroids and was maintained on oral 5-aminosalicylate (5-ASA) treatment.
Approximately a year later during a follow-up clinic visit, the patient's mother mentioned that the patient's 4-year-old brother had recently been to the hospital for drainage of a neck abscess. He had also apparently had a history of multiple perianal abscesses requiring surgical drainage. There had been no work-up for an immunodeficiency in the brother, and knowing that patients with chronic granulomatous disease (CGD) could have gastrointestinal symptoms similar to that of CD, we tested both siblings for CGD with a dichlorofluorescein (DCF) assay. The assay was abnormal in both instances, and Western blot analysis demonstrated the absence of the p47phox protein, confirming the diagnosis of CGD in the 2 siblings.
