Wadhwani M, Beri S, Saili A, Garg S
Dr RP Center for Ophthalmic Science, AIIMS, New Delhi, India.
Nepal J Ophthalmol. 2012 Jul-Dec;4(2):326-8. doi: 10.3126/nepjoph.v4i2.6554.
Homocystinuria is a rare metabolic disorder characterized by excess homocysteine in the urine. Vitamin B12 deficiency has diverse cutaneous, nervous and ophthalmic manifestations.
To report a case of homocystinuria masquerading as vitamin B 12 deficiency.
We hereby are presenting an interesting case of a 4 year old boy who was being treated for Vitamin B 12 deficiency on the basis of history of delayed milestone, abdominal pain and hyperpigmentation of skin which was diagnosed as homocystinuria.
It is important to carry out ophthalmological examination in every case of megaloblastic anemia if associated with blurring of vision and mental retardation.
同型胱氨酸尿症是一种罕见的代谢紊乱疾病，其特征是尿液中同型半胱氨酸过多。维生素B12缺乏有多种皮肤、神经和眼部表现。
报告一例伪装成维生素B12缺乏的同型胱氨酸尿症病例。
我们在此呈现一个有趣的病例，一名4岁男孩因发育里程碑延迟、腹痛和皮肤色素沉着病史而接受维生素B12缺乏治疗，最终被诊断为同型胱氨酸尿症。
如果巨幼细胞贫血伴有视力模糊和智力迟钝，对每例患者进行眼科检查很重要。
