过度复杂症:婴儿中可治疗的发作模仿器
Sai Chandar Dudipala1,2, Raja Vijendra Reddy3, Roop Shankar3
1Pediatrics, Prathima Institute of Medical Sciences, Karimnagar, IND.
Cureus
|May 30, 2023
概括
超重复症 (HK) 是一种罕见的神经遗传障碍,导致婴儿过度发反射. 这份病例报告确定了两个月大的婴儿被误诊患有的GLRA1基因突变,强调了准确诊断的重要性.
科学领域:
- 神经遗传学 神经遗传学
- 儿科神经学 儿科神经学
背景情况:
- 超重复症 (HK) 或惊症是一种罕见的神经遗传疾病,在婴儿期早期出现.
- 由于特征是过度的惊反射和泛性高血压,HK经常被误诊为,导致不适当的治疗.
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