Chronic Granulomatous Disease

Chronic granulomatous disease (CGD) is a diverse group of hereditary diseases in which certain cells of the immune system have difficulty forming the reactiveoxygen compounds (most importantly, the superoxide radical) used to kill certain ingested pathogens. This leads to the formation of granulomata in many organs. CGD affects about 1 in 200,000 people in the United States, with about 20 new cases diagnosed each year. (adapted from Wikipedia)

Image from NEJM (link) N Engl J Med 2012; 367:753

A 12-year-old boy was admitted to the hospital because of fever, chills, sweats, productive cough, nausea, and vomiting. He had been subject to recurrent pneumonias since the age of 5 years. On physical examination, he was febrile, tachycardic, and tachypneic; diffuse rhonchi were heard in both lungs. The patient also had finger clubbing, splenomegaly, and massive lymphadenopathy in the cervical, axillary, and preauricular areas and the epitrochlear and inguinal areas  of his body. Blood cultures grew Staphylococcus aureus. A chest radiograph (see above)  revealed multiple bilateral abscesses in both lungs. The results of a nitroblue tetrazolium reduction test and immunoblotting suggested a diagnosis of chronic granulomatous disease, which is characterized by recurrent life-threatening bacterial and fungal infections and granuloma formation. Most patients receive a diagnosis before reaching 5 years of age. This patient was treated with trimethoprim–sulfamethoxazole, levofloxacin, and voriconazole, with nearly complete resolution of symptoms. Lifelong prophylaxis with trimethoprim–sulfamethoxazole and itraconazole was recommended.

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