13 岁儿童以中央视网膜动脉阻塞为首发表现的高同型半胱氨酸血症伴高脂蛋白(a)血症
Central retinal artery occlusion in a 13-year-old child as a presenting sign of hyperhomocysteinemia together with high lipoprotein(a) level.
机构信息
Department of Ophthalmology, Baskent University Faculty of Medicine, Ankara, Turkey.
出版信息
Pediatr Neurol. 2013 Aug;49(2):138-40. doi: 10.1016/j.pediatrneurol.2013.04.002.
BACKGROUND
We describe a child with central retinal artery occlusion and hyperhomocysteinemia.
METHODS
A 13-year-old girl developed sudden vision loss and was hospitalized for diagnosis and treatment.
RESULTS
Her physical examination was normal except for her ophthalmologic examination. Her serum homocysteine level and lipoprotein(a) were elevated to 45.27 μmol/L and 61 mg/dL 0-29 mg/dL, respectively. A homozygous mutation was identified for methylenetetrahydrofolate reductase at position C677T.
CONCLUSION
This report documents central retinal artery occlusion associated with the risk factors of hyperhomocysteinemia caused by methylenetetrahydrofolate reductase C677 T mutation and high lipoprotein(a) level in a child. Retinal artery occlusion is rare in children. This patient emphasizes the need for a systemic evaluation for hyperhomocysteinemia and lipoprotein(a) levels in children with retinal vascular occlusion of uncertain etiology.
背景
我们描述了一名患有视网膜中央动脉阻塞和高同型半胱氨酸血症的儿童。
方法
一名 13 岁女孩出现突发性视力丧失，并住院接受诊断和治疗。
结果
除眼科检查外，她的体格检查正常。她的血清同型半胱氨酸水平和脂蛋白（a）升高至 45.27μmol/L 和 61mg/dL（0-29mg/dL）。亚甲基四氢叶酸还原酶位置 C677T 存在纯合突变。
结论
本报告记录了一名儿童因亚甲基四氢叶酸还原酶 C677T 突变导致的高同型半胱氨酸血症和高脂蛋白（a）水平以及视网膜中央动脉阻塞相关的风险因素。视网膜动脉阻塞在儿童中较为罕见。该患者强调需要对病因不明的视网膜血管阻塞的儿童进行高同型半胱氨酸血症和脂蛋白（a）水平的系统评估。
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