Leber氏病误诊为多发性硬化3例并文献复习

目的：分析Leber氏病误诊为多发性硬化的原因。方法：收集我科8a来误诊为多发性硬化的Leber病共3例，从遗传学、起病形式、主要症状特点和重要的实验室资料结合参考献来进行鉴别。结果：3例均有遗传病史，均在青春期前后急性发病，临床均有视力下降和视乳头水肿，眼底荧光血管造影均为视乳头毛细血管扩张，无荧光素渗漏，3例寡克隆带(OCB)均阴性，其中锥体束征、色觉改变、小脑性共济失调、头MRI异常各1例。结论：遗传病史、眼底荧光血管造影、色觉改变、寡克隆带(OCB)和头颅MRI可资鉴别Leber氏病和多发性硬化。

The Causal Analysis of Misdiagnosing Leber''''s Disease as Multiple Sclerosis

Objective:To analyse the causes of misdiagnosing Leber's disease as multiple sclerosis. Methods:3 cases of Leber's disease misdiagnosed as MS were collected and differential diagnosis were made based on genetics, disease onset . main symptoms and important lab data. Results:All 3 cases had the hereditary history, and their onset of illness were all around adolescence. Their visual acuity abruptly reduced and optic papillar were swelling, and ophthamic fluorescent angiography showed that capillary was enlarged. Oligoclonal band(OCB) were all negative including 1 pyramidal tract symptoms, 1 color vision alteration, 1 cerebellar ataxia, and labnormal MRI imaging. Conclusion:Leber disease could be differentiated from MS in hereditary history, the examination of optical fluorescent angiography, colour perception , Oligoclonal band(OCB) and head MRI.