罕见的Wolfram综合症

A. Chauhan, S. Sharma, Ranesh Kumar
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引用次数: 3

摘要

一位19岁男性,患有1型糖尿病和幼年类风湿性关节炎(JRA),以无痛性进行性视力下降来到二级保健机构。眼部检查显示双侧视神经萎缩。对沃尔夫勒姆综合征(WFS)的怀疑导致了对许多已知实体与该综合征的关联的一系列调查。在我们的病例中出现了与该综合征的正相关,如身材矮小、肾积水、癫痫发作和色觉不足。据我们所知,在互联网上进行了广泛的文献检索后,这可能是第一例报道的WFS合并JRA而整体上没有尿崩症的病例。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A rare case of Wolfram syndrome
A 19-year-old male with type 1 diabetes mellitus and juvenile rheumatoid arthritis (JRA) presented to a secondary care institute with painless, progressive diminution of vision. Ocular examination revealed bilateral optic atrophy. A suspicion of Wolfram syndrome (WFS) led to a battery of investigations for known association of many entities with this syndrome. Positive associations with this syndrome such as short stature, hydronephrosis, seizures, and color vision deficiency were present in our case. To the best of our knowledge and after undergoing extensive literature search on the internet, this is probably the first reported case of WFS with JRA and without diabetes insipidus as a whole.
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