Fatal granulomatous disease.

Abstract

SummaryTwo brothers with Fatal granulomatous disease of childhood (FGD) are presented. Both patients exhibited pronounced food allergy. Otherwise, the course of the disease was typical of FGD. From infancy recurrent infections, notably suppurative lymphadenitis, and a fatal outcome before puberty.Microscopic examination of affected organs revealed granulomas with tuberculoid structure; the macrophages contained a characteristic yellow‐brown lipid pigment.A defective function of the neutrophil granulocytes has been demonstrated in FGD. The phagocytic capacity is intact but phagocytized bacteria are not killed since phagocytosis does not induce liberation of catabolic enzymes from the neutrophil granules. In one of our patients, defective degranulation and vacuolization of the cytoplasm of neutrophils was demonstrated in vitro following phagocytosis of staphylococci. However, exposure to sodium fluoride or kleb‐siella toxin did induce degranulation and vacuolization of the defective granulocytes.