Colitis as the Sole Initial Presentation of Chronic Granulomatous Disease

Abstract

Chronic granulomatous disease is a rare, inherited immunodeficiency disorder that reduces the superoxide generation ability of phagocytes, leading to recurrent infections and granulomatous inflammation. We report the case of a previously healthy 3-year-old boy who presented with classic features of Crohn disease. Suspicion from histopathologiclogic assessment allowed early diagnosis and treatment for chronic granulomatous disease before the onset of infections.

A 9-Year-Old Male With Generalized Lymphadenopathy and Granulomatous Inflammation

“…7 On endoscopic evaluation of patients with CGD, Obayashi et al described the unique finding of brown spots on yellow edematous mucosa, termed “leopard sign.” 8 Other histologic features commonly seen in biopsies of these patients include microgranulomas, tissue eosinophilia, and chronic and/or acute inflammation. 4,7…”

“…Both have been shown to have similar gross morphologic and radiographic features. [3][4][5] Clinically, both disease processes can present with fevers, poor weight gain, diarrhea, aphthous ulcers, and fistula formation. Approximately 32% to 80% of patients with CGD are diagnosed with noninfectious colitis at some point, yet only 5% of these patients reported gastrointestinal symptoms prior to their diagnosis.…”

Colonoscopic ’leopard sign' in chronic granulomatous disease

“…Microscopically, it consisted of coalescing aggregates of pigment-laden macrophages and mild chronic inflammatory process in the lamina propria without crypt abscesses (figure 1C,D). 1–3 This aspect resembles melanosis coli associated with prolonged use of anthraquinone laxatives, for example, senna. However, in this latter condition, colic mucosa has a more diffuse dark-brownish coloration corresponding to lipofuscin-laden macrophages 1…”

“…Chronic granulomatous disease (CGD) is an inherited (X linked or autosomal recessive) immunodeficiency disorder due to a defect of phagocyte nicotinamide adenine dinucleotide phosphate oxidase 2–4. This leads to an inability of phagocytes to kill ingested pathogens.…”

“…In addition to recurrent infections, patients may develop symptoms related to dysregulated immunity. Among these, gastrointestinal inflammation and, in particular, granulomatous colitis are reported in 30%–50% of patients with CGD 1 2 4 5. Digestive symptoms including diarrhoea, vomiting, abdominal pain and bloody stool can precede the onset of infections and mimic other inflammatory bowel disease, such as Crohn’s disease.…”