亚急性部分可逆性白细胞大脑病变扩大了艾卡迪-古提耶综合征表型
Isabella Peixoto de Barcelos1, Clarissa Bueno1, Luís Filipe S Godoy2
1Child Neurology Service, Department of Neurology, University of São Paulo School of Medicine, Dr. Enéas de Carvalho Aguiar, 255, 5th Floor, São Paulo 05403-000, SP, Brazil.
Brain sciences
|August 26, 2023
概括
艾卡迪-古提耶氏综合征 (AGS) 可以呈现非典型的亚急性发育回归,经常被误诊为ADEM. 在部分恢复的受影响儿童中,RNASEH2B和RNASEH2A的遗传变异被确定.
科学领域:
- 神经免疫学 神经免疫学
- 儿科神经学 儿科神经学
- 遗传学 遗传学 是一个
背景情况:
- 艾卡迪-古提耶氏综合征 (AGS) 是一种罕见的遗传炎症疾病,影响大脑和免疫系统.
- 典型的AGS呈现包括早期发作的神经功能障碍和特征的神经成像发现.
- 非典型的表现可以模仿其他神经疾病,使诊断和管理复杂化.
研究的目的:
- 描述艾卡迪-古提耶综合征的不寻常的临床和神经成像表现.
- 突出潜在的诊断挑战,特别是与急性脱髓性脑膜炎 (ADEM) 的区别.
- 为了确定非典型的AGS表型患者的遗传基础.
主要方法:
- 对六名无关患者的临床,神经成像 (CT,MRI) 和遗传数据的回顾性分析.
- 详细评估发育里程碑,神经症状和沟通能力.
- 全外基因组测序 (WES) 用于识别已知的AGS相关基因中的致病变体.
主要成果:
- 六名患者在7至20个月之间表现出亚急性发育回归,金字塔状症状和沟通能力下降.
- 在随访期间 (平均7年) 观察到显著的临床和神经影像改善,残留的性/肌痛发作,但保持认知能力.
- 基因分析揭示了RNASEH2B (n=4) 和RNASEH2A (n=2) 中的双基致病变体,包括新型同卵性和复合异卵性突变.
结论:
- 本系列扩展了已知的AGS表型,包括带有部分恢复的亚急性发育回归.
- 临床和成像特征可能被误诊为ADEM,强调需要进行遗传测试.
- 鉴定RNASEH2B和RNASEH2A变体证实了它们在这种非典型的AGS呈现中的作用.
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