诺里病:耳增强和小脑信号异常
Kevin Ferenchak1, Julie B Guerin1, Asra Nayab1
1From the Department of Ophthalmology (K.F, L.A.D., B.A.S) Mayo Clinic, Rochester, MN, USA; Department of Radiology (J.B.G., A.N., V.M.S.) Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics (L.A.S., M.Q.L) Mayo Clinic, Rochester, MN, USA; Department of Neurology (G.F.K.) Mayo Clinic, Rochester, MN, USA.
AJNR. American journal of neuroradiology
|February 18, 2025
概括
诺里病 (ND) 导致失明和听力损失. 新的MRI发现显示ND的婴儿的大脑和内耳异常,可以模仿感染,但不一定是中枢神经系统感染的迹象.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 眼科医生 眼科 眼科
背景情况:
- 诺里病 (ND) 是一种罕见的X关联疾病,导致儿童失明,后来导致神经感官听力损失.
- 眼部表现包括视网膜脱落,前部段异构,眼,和微眼.
- 在ND中内发现尚未得到广泛的记录.
研究的目的:
- 报告两名遗传确认诺里病的婴儿的新型MRI发现.
- 要强调的是,这些内发现可以模仿中枢神经系统感染.
- 提高临床意识的诺里病在这些成像异常的差异诊断.
主要方法:
- 在两个男婴中,诺里病的遗传确认.
- 眼科检查以记录眼部异常情况.
- 头骨MRI用于评估内和内耳结构.
主要成果:
- 婴儿呈现出诺里病的特征性眼部异常.
- 核磁共振扫描显示了头骨神经,带和小脑的增强,小脑的扩散受到限制.
- 这些内发现模仿脑膜炎,迷宫炎和大脑炎,尽管没有临床感染.
结论:
- 迷宫和小脑信号异常是诺里病中以前未报告的发现.
- 临床医生应该考虑这些特定的MRI发现的婴儿诺里病.
- 描述的内特征并不一定表明中枢神经系统感染,并且在诺里病的背景下需要仔细解释.
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