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Unusual Manifestations of Chronic Granulomatous Disease

WILLIAM F. SCHMIDT, MD, PHD; MORTIMER PONCZ, MD; MARIE O. RUSSELL, MD; ELIAS SCHWARTZ, MD
Am J Dis Child. 1981;135(4):376-377. doi:10.1001/archpedi.1981.02130280066023.
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Chronic granulomatous disease (CGD) is usually a sex-linked recessive disorder characterized by recurrent purulent infections of the skin and lymph nodes. Affected granulocytes form diminished quantities of superoxide1 and can ingest but not kill catalase-positive bacteria.2 Granulocytes from patients with CGD fail to reduce nitroblue tetrazolium (NBT) to blue formazin,3 a defect that forms the basis of tests to identify affected patients and carriers. We describe two children with CGD who had unusual symptoms in order to emphasize the variability of initial signs associated with the disease. Earlier diagnosis coupled with aggressive therapy may improve the outcome in such cases.

Report of Cases.—Case 1.—An 8-month-old boy was hospitalized in 1974 for evaluation of fever of one month's duration. The child was well until 6.5 months of age when right lower—lobe pneumonia developed. He was referred to The Children's Hospital of Philadelphia because of continued high

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