糖尿病酸性糖尿病和重复的童年类似中风的情节
Ren-Chuan Liu1, Ji-Nan Sheu2, Chin-San Liu3
1School of Medicine Chung Shan Medical University,Taichung Taiwan.
线粒体脑膜异常症,乳酸和类似中风的发作 (MELAS) 可能在儿童时期出现,有时与糖尿病有关. 典型的大脑成像发现有助于区分MELAS和儿童中风.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 线粒体脑膜异常症,乳酸和类似中风的发作 (MELAS) 是一种罕见的母性遗传疾病.
- 它经常表现为神经和代谢障碍,包括类似中风的发作和糖尿病.
研究的目的:
- 描述一个儿科病例的MELAS呈现与糖尿病酸性脂肪酸和复发性中风类发作.
- 突出诊断挑战和儿科MELAS中特有的神经成像发现.
主要方法:
- 一个13岁女孩的病例报告,最初出现了发烧,吐和高血糖的症状.
- 诊断工作包括实验室测试 (HbA1C,尿,乳酸),脑部MRI和线粒体DNA分析.
- 临床过程和神经成像发现被监测了几年.
主要成果:
- 该患者被诊断患有MELAS,原因是A3243G线粒体DNA突变 (64%异质).
- 最初的呈现模仿了糖尿病酸性,随后是复发性发作和类似中风的发作,在MRI上具有特征的围骨损伤.
- 16岁和7个月以及16岁和10个月的重复发作显示出渐进的神经缺陷和大脑.
结论:
- 梅拉斯可以在儿童时期表现出糖尿病酸性脂肪酸和神经系统缺陷的重叠特征.
- 典型的MRI发现,在腰或腰区域发生了类似心脏病发作的病变,这对于区分MELAS与其他儿童中风病因至关重要.
- 早期诊断和基因检测对于管理MELAS及其并发症至关重要.
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