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December 1981

Linkage Between Chronic Granulomatous Disease and Duchenne's Muscular Dystrophy?

Author Affiliations

Department of Medical Genetics College of Medicine University of South Florida 12901 N 30th St Tampa, FL 33162

Am J Dis Child. 1981;135(12):1149. doi:10.1001/archpedi.1981.02130360053025

Sir.—I read with interest the letter by Schmidt et al (Journal 1981;135:376-377), because I recently studied a case of chronic granulomatous disease that had a diagnostic difficulty of a somewhat different nature.

Report of a Case.—A 2-year-old boy was diagnosed as having chronic granulomatous disease based on the clinical pattern of recurrent staphylococcal infections since birth, including impetigo three times and a left anterior cervical abscess. He also had had pneumonia, but no organism was isolated on lung needle biopsy. The quantitative nitro blue tetrazolium test (NBT) showed a resting value of 0.027 and phagocytic value of 0.039 (normal, resting, 0.100 ± 0.075; phagocytic 0.300 ± 0.050). The bactericidal assay showed a marked inhibition in the intracellular killing of Staphylococcus aureus 502-A. Long-term prophylaxis with sulfamethoxazole-trimethoprim (Bactrim) has kept the patient free of infection.

At 3 years of age, a positive Gowers' sign and pseudohypertrophy of the calves