Hepatic pathology of chronic granulomatous disease of childhood.

We reviewed the hepatic pathology of seven cases of chronic granulomatous disease of childhood. All patients were male, with an age range of 5 to 41 years. Hepatic biopsy with drainage or wedge resection was performed in five cases to remove abscesses. Autopsy was performed in three cases. Presentation was typical of infection (fever, leukocytosis) with an elevated serum alkaline phosphatase level. Histologically, the most consistent feature was the presence of foamy macrophages that contained a finely granular golden brown pigment, seen in all seven cases. These were present as small collections predominantly in the portal tracts but were also found in the lobules. Palisading granulomas with central necrosis and associated giant cells were seen in four cases, one of which also had occasional lobular epithelioid granulomas. One case showed hyalinized portal and lobular granulomas. Four cases that showed palisading granulomas cultured positive for Staphylococcus aureus. One case cultured Pseudomonas cepacia, and one case cultured Streptococcus intermedius. Although palisading granulomas are typical of chronic granulomatous disease, they are not seen in all cases. These granulomas are similar to granulomas that are seen with Candida and other fungal infections and therefore are not specific for chronic granulomatous disease of childhood. The pigmented macrophages appear to be a consequence of the primary defect of the disease and are not secondary to infection and associated inflammation.