■生物素酶缺乏症(BD)是一种遗传性常染色体隐性代谢紊乱。BD与视神经萎缩有关,眼部感染,和视网膜病变。BD最常见的眼科表现是视神经萎缩,可能会被误诊为多发性硬化症或视神经脊髓炎,尤其是晚发性BD病例。
■在本文中,我们报告了一个9岁男孩,视力逐渐丧失。眼科检查,脑部核磁共振,并对患者进行了几项实验室检查,如水通道蛋白-4IgG水平和生物素酶水平.
■检查发现双侧视神经萎缩和视力受损。患者的生物素水平为1.25U/min/ml(正常范围3-9U/min/ml),有利于BD。
■在这项研究中,我们报告了一名9岁的男孩,他的视力丧失被诊断为BD。我们还回顾了文献,以强调BD的眼科表现。眼科医生必须考虑患有无法解释的眼科投诉的儿童的BD,特别是当BD的其他特征体征(例如,发育迟缓,癫痫发作)存在。此外,BD患者应每年定期接受眼科检查,以检查是否有任何眼部受累迹象。
UNASSIGNED: Biotinidase deficiency (BD) is an inherited autosomal recessive metabolic disorder. BD has been associated with optic nerve atrophy, eye infections, and retinopathy. The most prevalent ophthalmic manifestation of BD is optic atrophy, which might be misdiagnosed as multiple sclerosis or neuromyelitis optica, especially in late-onset BD cases.
UNASSIGNED: In this article, we report a 9-year-old boy with gradual vision loss. Ophthalmologic examination, Brain MRI, and several laboratory tests such as Aquaporin-4 IgG level and biotinidase level were done on the patient.
UNASSIGNED: Bilateral optic atrophy and impaired visual acuity were detected on examination. The patient had a biotin level of 1.25 U/min/ml (normal range 3-9 U/min/ml), favoring the BD.
UNASSIGNED: In this study, we report a 9-year-old boy with vision loss diagnosed with BD. We also reviewed the literature to highlight the ophthalmic manifestations of BD. Ophthalmologists must consider BD in children with unexplained ophthalmologic complaints, especially when other characteristic signs of BD (e.g., developmental delay, seizure) are present. Also, patients with BD should undergo regular annual ophthalmologic examinations to be checked for any signs of eye involvement.