Chronic granulomatous disease (CGD) is based on the dysfunction of phagocytes and characterized by a comparatively uniform granulomatous lesion caused by organisms which do not produce hydrogen peroxide and which are catalase-positive. This report describes two autopsy cases in children, a nine year-two month-old boy and a ten month-old girl, with the clinical manifestations and autopsy findings of CGD and a brief review of all autopsy cases consistent with CGD reported in Japan.
In these cases, in addition to the usual CGD lesions, there was a markedly different type of granuloma due to Aspergillus sp., which consisted of multinuclear giant cells alone, or a caseous center surrounded by giant cells. This peculiar type of aspergillosis may correspond to a primary infection, described as pseudotuberculosis aspergillina. It appears that in some CGD patients, macrophages may function normally and sometimes be more activated by these infections than in the normal body. The histochemical and electron microscopic examination of the present cases and a review of the previous cases suggest that the yellowish brown pigment found seems to resemble a ceroid. It is a product of the degradation of leukocytes and tissue elements with subsequent accumulation in phagocytic histiocytes and is not necessarily peculiar to CGD.
Key words Chronic granulomatous disease - Pigmented lipid histiocytes - Altered phagocytosis by phagocytes - Aspergillosis - Pseudotuberculosis aspergillina