短暂性新生儿肌无力是产妇重症肌无力的罕见并发症。

大约 10-15% 的母亲所生的孩子具有抗乙酰胆碱受体 (AChR) 抗体,较少出现抗肌肉特异性激酶 (MuSK) 抗体。

症状通常从出生后第三天开始明显,几乎所有病例都会出现双侧面部麻痹和吸吮困难。症状通常在一个月大时消失。

然而,在一小部分患者中,由于针对胎儿 γ 亚基的抗体(在成人中被 ε 亚基取代),可能会出现更严重的情况,包括胎儿关节弯曲和持续到成年的球面麻痹,称为胎儿 AChR 失活综合征。

在发育的关键时期暴露于特定抗体会导致受体失活。

19955111 {19955111:77IWNDPL} 1 温哥华 50 默认 3100 https://neuropediatoolkit.org/wp-content/plugins/zotpress/
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1.
Hoffmann K、Müller JS、Stricker S、Megarbane A、Rajab A、Lindner TH 等。埃斯科巴综合征是一种由胎儿乙酰胆碱受体 γ 亚基破坏引起的产前肌无力。美国人类遗传学杂志[互联网]。 2006 年 8 月 1 日 [引用于 2022 年 10 月 15 日];79(2):303–12。可从: https://www.sciencedirect.com/science/article/pii/S0002929707631371