Chronic granulomatous disease: 14 cases

OBJECTIVES: Chronic granulomatous disease (CCD) is a rare inherited immunod eficiency Affected children are mostly boys. The most common clinical featu res are recurrent bacterial and fungal infections starting at early childho od. We report 14 cases, including 5 girls, of CCD in Tunisian children. PATIENTS AND METHODS: This retrospective study concerned 14 clinical observ ations of CGD recorded between April 1988 and December 1998. The diagnosis was established upon determination of a defective respiratory burst in the patients' neutrophils at the tetrazolium nitroblue lest (NBT). In 4 cases, the diagnosis was also confirmed by chemiluminescence assay. RESULTS: The patients (9 boys and 5 girls) belonged to 12 families, 75% of which were consanguineous. In 6 families, there had been several deaths in early childhood. The mean age at onset of clinical signs was 6.8 months (7 days to 24 months). Clinical signs included lung (10 cases), nodal (8 cases ), skin (7 cases), and intestinal (7 cases) infections. Seven patients deve loped invasive pulmonary aspergillosis with parietal extension in 4 cases. Salmonella and Staphylococcus infections were rare in our series. Six child ren (42.8%) including 2 girls, died. Aspergillosis was fatal in 4 cases. CONCLUSION: Recurrent infections are the main clinical featues of chronic g ranulomatous disease. Prognosis has been improved by the use of prophylacti c antibiotics. Early diagnosis of the disease is crucial.