Hospital Pediatric Department, Saint-Petersburg State Pediatric Medical University, Lytovskaya 2, Saint-Petersburg, Russia, 194100,
J Inherit Metab Dis. 2013 Nov;36(6):1079-80. doi: 10.1007/s10545-012-9573-z. Epub 2013 Feb 6.
The case of a 10-year-old boy with Farber lipogranulomatosis with predominant joint involvement, subacute, laryngeal and tongue granulomas, microcytic anemia, elevated ESR and CRP, is presented. The boy had no signs of CNS and internal organ involvement. The disease manifested at 6 months; at 11 months the boy had widespread granulomatous polyarthritis with contractures, and juvenile idiopathic arthritis (JIA) was suggested. All antirheumatic therapies failed. Immunologic assessment revealed elevated serum interleukin-1β, increased T-helper, NK and CD25-positive cells, and circulating immune complexes. Our case with predominant rheumatologic manifestations illustrates a differential diagnosis of JIA.
现介绍一例 10 岁男孩，患有法伯脂褐素沉积症，主要累及关节，亚急性、喉和舌肉芽肿，小细胞性贫血，血沉和 C 反应蛋白升高。患儿无中枢神经系统和内脏器官受累的迹象。疾病在 6 个月时表现出来；11 个月时，患儿出现广泛的肉芽肿性多关节炎伴挛缩，提示幼年特发性关节炎（JIA）。所有抗风湿治疗均失败。免疫评估显示血清白细胞介素-1β升高，辅助性 T 细胞、自然杀伤细胞和 CD25 阳性细胞增加，以及循环免疫复合物。我们的病例主要表现为风湿病学表现，说明了幼年特发性关节炎的鉴别诊断。
