Chronic granulomatous disease of childhood: a changing pattern?

We have followed nine male patients with Chronic Granulomatous Disease at The Hospital for Sick Children, Toronto, since 1972. The diagnosis was established in each case by the failure of neutrophils to reduce nitroblue tetrazolium dye and to kill Staphylococcus aureus normally in vitro. Bacterial infections began between 6 months and 14 years of age. In five of the nine patients, infections began after 4 years of age. The first significant infection in five patients was a liver abscess(es), and one patient each had lymphadenitis, pulmonary aspergillosis, a parapharyngeal abscess, and a draining inguinal incision following surgery. Following diagnosis, all patients were started on Trimethoprim-Sulfamethoxazole at a dose of 2 mg/kg/day of Trimethoprim. The patients have been followed for 50 patient-years. Five of nine patients have been free of infection during 16 years of observation. For the remaining four patients, there have been six infections during 34 years of observation. A possible infection-related death occurred in one patient. The patients reported here appear to differ from those in previous reports. They present later in life, often with a liver abscess. They have a low incidence of subsequent bacterial infections which may, in part, be due to Trimethoprim-Sulfamethoxazole prophylaxis. The patients with chronic granulomatous disease reported here appear to have a better prognosis than previously thought.