title: Chronic granulomatous disease (CGD) mimicking neoplasms: a suspected mediastinal teratoma unmasking as thymic granulomas due to X-linked CGD, and 2 related cases.
abstract: Patients with chronic granulomatous disease (CGD) suffer from severe bacterial and fungal infections and deregulated inflammation, which are often associated with granuloma formation. We describe a 2-year-old boy who was seemingly healthy at the age of 1 year when a conventional chest radiograph was taken to exclude pulmonary aspiration of a piece of apple. Incidentally, a space-occupying mediastinal mass was revealed that was further evaluated by magnetic resonance imaging. Varying solid and also cystic, septated parts of the mass could be discerned and it was considered to be a teratoma. Removal of the mass by surgery was arduous because of adhesiveness to surrounding areas and led to severe complications. Unexpectedly, histopathologic examination revealed massive acute granulomatous inflammation with liquefied thymic cysts. X-linked CGD was subsequently diagnosed by a dihydrorhodamine 123 assay and sequencing of the CYBB gene (hotspot mutation c.742-743insA). This is the third example that we are aware of, where CGD granulomas were mistaken for neoplasms. The other 2 patients were initially believed to have tumors of the stomach and the urinary bladder, respectively. All patients initially received inadequate treatment. We discuss possible strategies to avoid such tragic confusions.
authors.affiliation: Section of Immunology, Department of Pediatrics, University Clinic Carl Gustav Carus, Technical University, Germany.
authors.forename: Fabian
authors.initials: F
authors.lastname: Hauck
authors.forename: Sabine
authors.initials: S
authors.lastname: Heine
authors.forename: Rita
authors.initials: R
authors.lastname: Beier
authors.forename: Kathrin
authors.initials: K
authors.lastname: Wieczorek
authors.forename: Diane
authors.initials: D
authors.lastname: Müller
authors.forename: Gabriele
authors.initials: G
authors.lastname: Hahn
authors.forename: Manfred
authors.initials: M
authors.lastname: Gahr
authors.forename: Angela
authors.initials: A
authors.lastname: Rösen-Wolff
authors.forename: Joachim
authors.initials: J
authors.lastname: Roesler
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D008040:Genetic Linkage; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D008206:Lymphatic Diseases / Q000175:diagnosis* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008476:Mediastinal Cyst / Q000000981:diagnostic imaging / Q000473:pathology*; D008479:Mediastinal Neoplasms / Q000175:diagnosis* / Q000235:genetics; D008562:Membrane Glycoproteins / Q000235:genetics; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases / Q000235:genetics; D011859:Radiography; D012235:Rhodamines / Q000378:metabolism; D013724:Teratoma / Q000175:diagnosis* / Q000235:genetics; D013950:Thymus Gland / Q000473:pathology*; D014463:Ultrasonography
chemical_list: D008562:Membrane Glycoproteins; D012235:Rhodamines; C058319:dihydrorhodamine 123; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases