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A Case Diagnosed with Chronic Granulomatous Disease Presenting with Dactylitis

Bagcilar Medical Bulletin(2024)

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Abstract
Chronic granulomatous disease is a rare primary immunodeficiency seen in 1/70,000-1/200,000 births. It is a monogenetic disease caused by defects in the nicotinamideadenine-dinucleotide-phosphate oxidase enzyme complex. Nicotinamide adenine dinucleotide phosphate (NADPH) oxidase produces reactive compounds necessary for the lysis of phagocytized microorganisms. Defects in the NADPH oxidase enzyme complex predispose to granuloma formation and the development of lifethreatening recurrent bacterial and fungal infections. Infections usually occur with involvement of the lungs, lymph nodes, liver, bone and skin. Rarely, it may present with dactylitis. A case of chronic granulomatous disease presenting with dactylitis in the third finger of the left hand and abscess on the wrist. The patient who didn’t respond to empirical antibiotic treatment was referred to our hospital. Serratia marcescens was detected in the drained abscess. After the detection of Serratia marcescens, which we see rarely as a causative agent, in the wound culture, the detection of granulomatous inflammation in the biopsy and the NBT test: 0%; the patient was diagnosed with chronic granulomatous disease. Significant regression was observed in the lesion after ceftriaxone and gentamicin treatment given for 14 days. Recurrent and/or unusually severe infections, particularly abscesses and infections commonly caused by CGD-associated pathogens, should suggest chronic granulomatous disease. Early screening of potentially affected children; early diagnosis as well as timely antimicrobial therapy followed by adequate antimicrobial prophylaxis will prevent infectious relapses and sequelae.
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Key words
chronic granulomatous disease,cybb,dactylitis,serratia marcescens
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