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Neurology:1例青少年起病的亚历山大病的延髓背侧病变

2022-09-10 神经科病例撷英拾粹 神经科病例撷英拾粹

6岁男孩,表现为吞咽困难、呕吐和体重减轻。存在早期的发育迟缓,包括轻度的粗大动作和语言延迟。查体可见肌张力减退。脑MRI可见双侧强化的延髓背侧病变(图,增强序列未放)。

6岁男孩,表现为吞咽困难、呕吐和体重减轻。存在早期的发育迟缓,包括轻度的粗大动作和语言延迟。查体可见肌张力减退。脑MRI可见双侧强化的延髓背侧病变(图,增强序列未放)。

鉴别诊断包括脑白质营养不良或线粒体疾病。遗传学检测证实亚历山大病(GFAP靶向检测可见新发突变:p.Arg-376-Gly)。典型的特征还包括言语时鼻音过重(hypernasal speech),以及其后随着时间的推移出现运动困难和自主神经功能障碍。对于单侧或双侧延髓背侧病变伴定位症状(localizing symptoms)(例如,呕吐和吞咽困难)的患者,应考虑行GFAP测序。

(图:亚历山大病的脑MRI 可见轴位FLAIR[A]和冠状位T2WI[B]上特征性的双侧延髓背侧高信号病变,呈心形外观;轴位FLAIR[C]上存在其他符合诊断标准的病变[额叶白质(箭头) 和基底节(箭头)T2高信号异常])

参考文献

Sollee J, Waldman A. Teaching NeuroImage: Dorsal Medullary Lesions in Juvenile-Onset Alexander Disease. Neurology. 2021 Nov 16;97(20):e2050-e2051. 

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