Mansour Ahmad M, Al Dairy Mays, Hamam Rola, Hidayat Ahmed A
Department of Ophthalmology, American University of Beirut, POB 113-6044, Beirut, Lebanon.
Cases J. 2008 Oct 21;1(1):257. doi: 10.1186/1757-1626-1-257.
1-year-old girl was admitted for fever of unknown origin. Funduscopy revealed juxtapapillary retinal inflammatory mass in one eye with a differential diagnosis of sarcoidosis, tuberculosis, retinoblastoma or metastatic disease. Retinal biopsy showed necrotizing granulomatous retinitis. Extensive workup and therapeutic trials failed to confirm the diagnosis of tuberculosis or sarcoidosis. Her 7-month brother and 4-year-old male cousin presented with nystagmus, poor vision, paravascular pigmentary changes and were initially diagnosed as recessive retinal dystrophy. The girl died at age 2 from tuberculous meningitis and the boys had recurrent tuberculous and Aspergillus infections. Awareness of the typical fundus findings in chronic granulomatous disease allows early diagnosis of the disorder.
一名1岁女童因不明原因发热入院。眼底检查发现一只眼睛有视乳头旁视网膜炎性肿块，鉴别诊断包括结节病、结核病、视网膜母细胞瘤或转移性疾病。视网膜活检显示坏死性肉芽肿性视网膜炎。广泛的检查和治疗试验未能确诊为结核病或结节病。她7个月大的弟弟和4岁的男性表弟出现眼球震颤、视力差、血管旁色素沉着变化，最初被诊断为隐性视网膜营养不良。该女童2岁时死于结核性脑膜炎，而男孩们则反复发生结核和曲霉菌感染。认识到慢性肉芽肿病的典型眼底表现有助于早期诊断该疾病。
