Pediatrics, Case Western Reserve University Hospital, Cleveland, Ohio, USA
BMJ Case Rep. 2020 Sep 2;13(9):e235423. doi: 10.1136/bcr-2020-235423.
An 18-month-old boy presented with lytic lesion of skull and recurrent abscesses with The extensive work up revealed a gene mutation confirming the diagnosis of chronic granulomatous disease (CGD). This case scenario underscores the importance of exploring the possibility of immunodeficiency if there is a history of recurrent abscesses with atypical organism. The case also demonstrates that CGD can present as lytic lesion of skull.
一名 18 个月大的男童出现颅骨溶骨性病变和复发性脓肿,广泛的检查显示基因突变,确诊为慢性肉芽肿病(CGD)。如果有复发性脓肿伴非典型病原体的病史,这种情况下就需要探索免疫缺陷的可能性。本病例还表明,CGD 可表现为颅骨溶骨性病变。