一种多重线粒体功能障碍综合征4的病例,具有新的ISCA2变体,模仿后传染性脑炎
Hyungjin Chin1, Jaeso Cho2, Woo Joong Kim1
1Department of Pediatrics, Seoul National University College of Medicine, Jongno-gu, Korea.
Child neurology open
|November 2, 2023
概括
多重线粒体功能障碍综合征4 (MMDS4) 是一种罕见的遗传疾病,导致发育回归和白血病. 这份报告详细介绍了第一例韩国病例,强调了ISCA2基因变异和诊断发现.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 罕见疾病 罕见疾病
背景情况:
- 功能丧失的ISCA2突变导致白血病和发育回归,被确定为多重线粒体功能障碍综合征4 (MMDS4).
- MMDS4是一种罕见的遗传性疾病,报告的病例有限,经常出现严重的神经症状.
研究的目的:
- 报告韩国第一例MMDS4.4病例.
- 描述该患者MMDS4的临床表现,诊断结果和遗传基础.
- 强调在快速发育回归和白血病缩病例中考虑MMDS4的重要性.
主要方法:
- 临床病例介绍和详细的病史.
- 脑脊液 (CSF) 分析,包括氨基酸分析.
- 脑磁共振成像 (MRI) 用于白血病损伤评估.
- 整体外基因组测序 (WES) 用于遗传变体识别.
主要成果:
- 患者在12个月前表现出正常发育,随后在发烧后迅速回归.
- 脑液分析显示了淋巴主导性细胞瘤和脑液中高水平的甘氨酸.
- 大脑MRI显示扩散性白血病.
- 在WES中,已发现复合异性ISCA2变体 (c.166T>G,p.C56G和c.422A>C,p.Q141P).
结论:
- 应考虑MMDS4在早期发病的快速发育回归与白血病缩的差异诊断中,特别是在发烧发作后.
- 这些发现强调了ISCA2基因突变在神经发育障碍中的作用.
- 这个案例在全球范围内扩大了MMDS4的基因型和表型谱.
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