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Chronic granulomatous disease: an ultrastructural study of the pigment laden histiocytes.

We have studied the ultrastructural characteristics of the pigments in the macrophages of liver and lymph nodes from three children with chronic granulomatous disease (CGD). The pigments represent lipofuscin bodies and appear to be formed from lysosomes. Characteristic structures are believed to represent transitional stages between lysosomes and mature pigment granules. It is thought that the residual lipids undergo progressive oxidation secondary to deficient lipolytic activity, overloading the lysosomes. It was also noted that liver biopsy can be a valuable tool in confirming the diagnosis of CGD, particularly when the disease is clinically suspected but the results of the nitroblue tetrazolium test are equivocal.