A 6-month-old male infant refuses to move his left leg
Keywords:Chronic granulomatous disease, Catalase-positive organisms, DHR test, NADPH oxidase, NBT test
Chronic granulomatous disease (CGD) is a rare, genetically heterogeneous condition that occur from mutations in NADPH oxidase, resulting in recurrent infections from catalase-positive organisms and granuloma formation. It is most commonly diagnosed within the first two years of life. We present a case of a six-month-old infant who presented with left tibial pain with initial concerns for child abuse and was found to have CGD. A skeletal survey revealed multiple lytic lesions, diffuse osteopenia, and opacities in the lungs. MRI revealed a tibial subperiosteal abscess and, after incision and drainage, cultures grew Serratia marcescens, an unusual catalase-positive organism. Targeted testing for immunodeficiency revealed 0% NADPH oxidase activity on nitro blue tetrazolium (NBT), confirming the diagnosis.
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