Pediatric Chronic Granulomatous Disease Clinical Presentation

Updated: Apr 12, 2021
  • Author: Lawrence C Wolfe, MD; Chief Editor: Cameron K Tebbi, MD  more...
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The hallmark of chronic granulomatous disease (CGD) is early onset of severe, recurrent bacterial and fungal infections.

  • Over three quarters of patients present during the first 5 years of life.

  • The most commonly involved organs are those that serve as barriers against the entry of microorganisms from the environment, including the skin, lungs, GI tract, lymph nodes, liver, and spleen.

  • Common presentations include the following:

    • Skin infections

    • Pneumonia

    • Lung abscesses

    • Suppurative lymphadenitis

    • Diarrhea secondary to enteritis

    • Perianal or perirectal abscesses

    • Hepatic or splenic abscesses

  • Other presentations include the following:

  • Fungal infections occur in up to 20% of patients with chronic granulomatous disease.

    • Pneumonia is the most common presentation.

    • Fungal infections may be locally invasive or disseminated. Aspergillus species infection in chronic granulomatous disease is often indolent, with mild or absent symptoms at the outset.

  • A second characteristic manifestation of chronic granulomatous disease is the development of granulomas in the skin, GI tract, and genitourinary (GU) tract. At diagnosis, some patients present with symptoms related to these granulomas, including GI or GU obstruction.

    • Granulomas, nodular masses of inflammatory tissue, form in response to persistent antigenic stimulus (chronic infections) or because of lack of negative feedback by oxygen radicals on proinflammatory cytokines. Granuloma formation in the GI or GU tract can be the presenting symptom in chronic granulomatous disease. Symptoms of GI granulomas include dysphagia, nausea, vomiting, abdominal pain, and obstruction. Granulomas can be found throughout the GI tract. Common sites of obstruction include the gastric outlet, esophagus, and duodenum. Symptoms of GU obstruction include dysuria, incontinence, abdominal discomfort, and urinary retention.

    • In a review of 140 patients with chronic granulomatous disease, 33% had GI involvement, including granulomatous colitis, Crohnlike inflammatory bowel disease (IBD), GI obstruction (eg, gastric, esophageal, duodenal), perianal abscesses or fistulas, and esophageal dysmotility. [9] Symptoms included abdominal pain (100%), diarrhea (33%), nausea and vomiting (24%), bloody diarrhea (6%), and constipation (4%). About 70% with GI involvement had hypoalbuminemia. All recovered with steroids. Typical treatment for endoscopically confirmed granulomas was prednisone at 1 mg/kg/d. Relapse occurred in 71% after steroids were discontinued. Prednisone (2.5-5 mg/d) was maintained for more than 1 y in 43%. Interferon-gamma was not associated with increased GI involvement or granuloma formation. Growth delay was seen in 30%; whether this was due to GI involvement or steroid use was unclear. Among those with GI involvement, 89% had X91 versus 11% with autosomal recessive chronic granulomatous disease.

    • Watchful treatment of GI or GU granulomas that cause obstruction or symptoms with oral corticosteroids is effective. Prednisone at 1-2 mg/kg as an initial dose relieves symptoms of GI or GU obstruction. Although some reports show transient improvements of symptoms with antibiotic use these granulomata are often sterile. Coadministration of oral antibiotics may be used. Any obvious underlying or concomitant infections should be ruled out before steroid treatment is begun to prevent exacerbation. Corticosteroids, anti-inflammatory, and immunosuppressive effects are believed to counteract the unsuppressed inflammation that results in chronic granulomatous disease due to the lack of oxygen-radical suppression of proinflammatory cytokines.

    • Skin infections or granulomatous dermatitis occurs in almost two thirds of patients.

  • Other than unexplained fevers, constitutional symptoms are not associated with chronic granulomatous disease.

  • Chronic or recurrent infections in childhood can lead to failure to thrive with impairment of physical growth, though most adults with chronic granulomatous disease appear to attain their expected growth potential.

  • In general, carriers of chronic granulomatous disease are asymptomatic. However, carriers of X-CGD have a notable incidence of discoid lupus erythematosus, photosensitivity, Raynaud phenomenon, and aphthous ulcers.

  • On occasion, mothers who are carriers of X-CGD and who have hyperlyonization (ie, unequal representation of phagocytes expressing the normal and mutated gp91 genes) have a mild chronic granulomatous disease phenotype. This usually occurs when the normal gene for gp91 is expressed in less than about 10% of phagocytes. These women are occasionally misidentified as having autosomal recessive disease, which may lead to misinformation with regard to family planning.



The early descriptions of children with chronic granulomatous disease characterized them as presenting with lymphadenopathy, hepatosplenomegaly, growth failure, and stigmata of chronic skin infections. [10]

  • These physical findings are observed less commonly now than before because most patients are identified and treated in early infancy or childhood.

  • Infected patients sometimes present without the typical symptoms of infection (ie, fever, leukocytosis).



See Pathophysiology.