Division of Ophthalmology, Department of Surgery, McMaster University, Hamilton, Ontario, Canada.
Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, British Columbia, Canada.
J AAPOS. 2020 Apr;24(2):118-120. doi: 10.1016/j.jaapos.2019.12.008. Epub 2020 Feb 8.
An 11-month-old girl presented with dermatitis, boggy arthritis, and keratitis shortly after her hospitalization for bacterial pneumonia. A skin biopsy and genetic testing led to a diagnosis of Blau syndrome. Her symptoms persisted despite a stepwise increase in immune-modulating therapies. Her ocular findings advanced to include bilateral panuveitis, optic disk edema, and hypopigmented chorioretinitis. We speculate that the bacterial infection triggered an inflammatory reaction throughout her body that was facilitated by the pathogenic NOD2 variant.
一名 11 个月大的女孩在因细菌性肺炎住院后不久出现了皮炎、肿胀性关节炎和角膜炎。皮肤活检和基因检测导致了 Blau 综合征的诊断。尽管免疫调节治疗逐步增加，但她的症状仍持续存在。她的眼部发现进展为双侧全葡萄膜炎、视盘水肿和色素减退性脉络膜炎。我们推测，细菌感染引发了全身炎症反应，致病性 NOD2 变体促进了这种反应。
