Skeletal involvement in children who have chronic granulomatous disease

Abstract

Chronic granulomatous disease is a rare disorder of the oxidative metabolism of the white blood cells that results in immunodeficiency. In a retrospective review of the records of forty-two patients who had chronic granulomatous disease, we identified thirteen patients who had a total of twenty skeletal infections. Two types of infection were noted: Type 1, which resulted from a direct spread of the infection from an adjacent focus, usually of fungus or mycobacteria, and Type 2, which resulted from hematogenous spread, usually of Nocardia or more common bacteria. The thoracic vertebrae, ribs, and metatarsals were the most commonly involved bones. All four patients in whom the vertebrae were involved had a Type-1 fungal infection. Paresis developed in three of these patients, and two of them died. Antibiotics alone effectively eradicated the infection in only one patient. Wide operative débridement combined with administration of antibiotics was the most successful treatment. Comprehensive preoperative imaging and several cultures are necessary to locate the infection in the bone and to identify the organism.