Clinical and Radiological Aspects of Chronic Granulomatous Disease in Children: A Case Series from Iran

Background:

Chronic granulomatous disease (CGD) is a rare disorder of phagocytes in which absence of superoxide and hydrogen perox­ide production in phagocytes predisposes patients to bacterial and fungal infections. The annual incidence of CGD is estimated to be 1 in 200,000-250,000 live births.

Objective:

The main purpose of this study was to determine the clinical, radiological, pathological features, outcome and response to treatment in children with CGD. Methods: Thirteen patients with CGD, who were referred to the National Re­search Institute of Tuberculosis and Lung Disease (NRITLD) in Iran, were reviewed during a six-year period (1999-2005).

Results:

There were 10 (76%) male and 3 (24%) female cases. The median age of the patients was 9.5 years. Family history of CGD was reported by 7 patients. The median diagnostic age was 6.8 years, with a diagnostic delay of 4.6 years. The most common manifestations of CGD were pulmonary infections and skin involvement, followed by generalized lymphadenopathy. Diagnosis was based on reduced nitroblue tetra- zolium test (NBT) between 0-10% in all patients and confirmed by the dihydrorhodamine (DHT) assay in 7 patients. The most common ra­diological findings were multiple lymphadenopathy in the mediastinal region and fibrotic changes in lung fields. Two patients died of pulmo­nary infections and 11 children are under observation and receiving prophylactic treatment including sulfamethoxazole-trimethoprim and itraconazole.

Conclusions:

Based on the results of this research, im­munologic evaluations, especially evaluation for CGD, are highly rec­ommended in children suffering from recurrent pulmonary infections, cutaneous or hepatic abscesses, or infections caused by uncommon pathogens such as Aspergillus and granulomatous lesions not attrib­uted to any infectious agents. Early diagnosis and prophylactic treat­ment both prevent further development of the lesions and irreversible complications and decrease mortality and morbidity rates in children suffering from CGD.