髓鞘脫失性疾病併視神經病變－壹家族病例報告

在很多髓鞘脫失性疾病中常合併有視神經病變，如多發性硬化症，Devic's氏症，感染後的腦脊髓炎，亞急性脊髓視神經病變等。目前，這些疾病雖有家族例報告，但並無特殊遺傳型態報告於文獻上。本篇所報告的是一對兄妹。病例一為二十歲的男生，自幼即有下肢無力。來本院求診是因為有逐漸性的視力模糊達半年之久。電氣生理檢查及視神經功能檢查，包括視野檢查，色覺檢查，VEP等皆有異常現象。其腦部的MRI無特殊異常處，但脊髓MRI發現一疑似去髓鞘斑的病變。臨床上診斷為髓鞘脫失性疾病。而其妹即病例二為十八歲的女性，自幼亦被發現有步伐不穩，下肢無力，雖至目前為止，與眼睛方面的自覺症狀，但其電氣生理檢查及視神經功能檢查，皆顯示是無臨床症狀的視覺功能缺損。此兩例皆診斷為髓鞘脫失性疾病合併視神經病變，也許某種特殊的內在或外在因素影響此二位病人的表現方式，這有持更多的研究加以證實。另外，在髓鞘脫失性疾病中，發現這些無自覺無臨床症狀的視覺功能缺損者，可有助於我們早期診斷及早期治療視神經病變。

關鍵字

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並列摘要

Optic neuropathy can be found in many demyelinating disease, such as multiple sclerosis, Devic's disease, post-infectious encephalomyelitis, subacute myelo-optico-neuropathy. No definite family tendency was found before. In our clinic, a 20 year-old male patient with lower limbs weakness, who suffered from progressive blurred vision for a half year. The brain MRI showed no definite abnormal finding, but spinal MRI showed a plaque-like lesion. Demyelinating disease was impressed by neurologist, which was compatible with findings of electrophysiological study. Abnormal optic nerve functions, including VEP, visual field, color sensation test were noted. His sister, a 18 year-old girl with ataxia, lower limbs weakness, was diagnosed to have demyelinating disease also. No ocular symptom was noted till now, but subclinical visual function impairments, such as VEP, visual field, color sensation test were noted. Optic neuropathy associated with demyelinating disease was impressed in these two patients. Certain kind of factor maybe play a role in these patients. Searching for subclinical visual impairment would be helpful for early diagnosis and treatment of optic neuropathy in demyelinating disease.

並列關鍵字

Demyelinating Disease ； Optic Nevropathy ； Multiple Sclerosis ； Devic's Disease

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髓鞘脫失性疾病併視神經病變－壹家族病例報告

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