Atypical Presentation of Chronic Granulomatous Disease in a Child

Chiara Cuzzupè, Simona Santucci, Elda Pitrolo, Celeste Casto, Irene Viola, Claudio Romano, Mariella Valenzise, Filippo De Luca


Chronic granulomatous disease is a rare, inherited immunodeficiency caused by deletions or mutations in genes that encode subunits of the NADPH oxidase complex. The pattern of chronic granulomatous disease inheritance can be X-linked (about 70% of cases) or autosomal recessive. The basic defect lies in phagocytic cells (neutrophils and monocytes) which fail to effectively destroy invading bacteria and fungi. Also, a dysregulated immune response, characterized by extensive granulomatous inflammation of visceral organs, develops in patients. This immunodeficiency is characterized by repeated suppurative infections mainly located in the lungs, skin, and lymph nodes, but also affecting other organs. The major agents involved in the infections are catalase positive bacteria, mycobacteria, fungi, and other opportunistic germs. Diagnosis is based on clinical suspicion and confirmed by nitroblue tetrazolium test or flow cytometry that demonstrate the inability of phagocytes from affected individuals to produce superoxides. The treatment of chronic granulomatous disease involves, in addition to general care such as the prevention of infections and vaccinations, the use of sulfamethoxazole–trimethoprim in combination with itraconazole for prophylaxis. We report the case of a 3-year-old boy with medical history of recurrent respiratory infections, anemia, growth failure, elevated inflammatory markers and occasional rectal bleeding. He was admitted to our department for a suspected chronic bowel inflammatory disease. Clinical history, lymph nodes involvement and the discovery of intestinal granulomas on biopsies confirmed the diagnosis of chronic granulomatous disease.


chronic granulomatous disease; anemia; immunodeficency; granulomatous inflammation

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