Abstract

本病例急性起病,首诊被误诊为急性缺血性脑血管病,经皮肤活检和FMR1基因检测排除脆性X相关震颤/共济失调综合征(FXTAS)最终确诊为神经元核内包涵体病(NIID)。通过对本病例资料的复习,可以加深对NIID的认识,提高临床对NIID的识别能力和鉴别诊断水平,避免误诊和漏诊。

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