Atypical x-linked chronic granulomatous disease

Introduction: Chronic granulomatous disease (CGD) is an inherited phagocyte disorder caused by mutations in nicotinamide dinucleotide phosphate (NADPH) oxidase subunits. Phagocytic cells of CGD patients are unable to produce superoxide anions and their efficiency in bacterial killing is significantly impaired. It results in a susceptibility to infections of catalase-positive bacteria and fungi (especially Aspergillus species). Severe and recurrent skin infections and lymph node abscesses are the most common manifestations of CGD during early childhood. Intrahepatic abscesses occur later on.

Case report: We report a case of a ten year old boy who was diagnosed as a juvenile sarcoidosis while presenting with cervical and pulmonary lymphadenopathy and high angiotensin converting enzyme. In November 2001 he was hospitalized for septic fever and ultrasonographic evidence of liver abscess. Surgical treatment revealed a liver abscess in the right lobe. Autosomal recessive CGD was diagnosed based on partial lack of superoxide anion production by phagocytes. The dihydrorhodamine 123 (DHR) assay established the diagnosis. An X-linked gp91(phox) mutation was revealed. The gp91-phox protein is the electron-transporting subunit of the NADPH oxidase and encoded by the CYBB gene. CYBB gene mutation analysis revealed an unusual splice mutation. It is localized in the last base pair of exon 3 of the gp91-phox gene The mainstay of therapy is antibacterial and antifungal prophylaxis. Under medication with trimethoprim and itraconazole for at least one and a half year the patient remained without clinical symptoms.

Conclusions: Atypical, partial CGD should be considered when lymphadenopathy is going along with good clinical state.