一个斯里兰卡男孩患有Emery-Dreifuss肌肉发育不良5在婴儿期呈现持续性横 Aminitis
Sachith Mettananda1,2, Thakshila Vipulanayake3, Gihani Dineshika3
1Department of Paediatrics, Faculty of Medicine, University of Kelaniya, Thalagolla Road, Ragama, 11010, Sri Lanka. sachith.mettananda@kln.ac.lk.
BMC pediatrics
|October 24, 2025
概括
埃梅里-德莱法斯肌肉缩5是一种罕见的遗传性疾病,可以在婴儿期表现为持续高肝酶 (透视炎). 整个外体序列测序对于诊断这种情况至关重要,当其他原因被排除时.
科学领域:
- 遗传学 遗传学是一种遗传学.
- 神经学 神经学
- 儿科 儿科 儿科
背景情况:
- 埃梅里-德莱法斯肌肉发育不良 (EDMD) 是一种罕见的神经肌肉疾病,其特征是肌肉疲弱,关节收缩和心脏问题.
- 5型EDMD通常在儿童后期出现肌肉衰弱和心肌病变.
- 这一案例突出显示了EDMD 5在婴儿中异常呈现的异常表现,并伴有持续的透细膜炎.
研究的目的:
- 报告一种极为罕见的Emery-Dreifuss肌肉发育不良5病例,该病例在婴儿期出现.
- 强调考虑婴儿中超氨基酶升高的非肝病因的重要性.
- 展示整个外基因组测序在诊断罕见遗传疾病中的实用性.
主要方法:
- 一个21个月大的男孩的案例研究,自婴儿时期以来一直存在高水平的转氨基酶.
- 临床检查显示伪高缩,高尔的标志,并显著提高了肌酸酸酶.
- 诊断工作包括肝功能测试,腹部超声波,肌电图,肌肉活检和整个外体序列测试.
主要成果:
- 患者出现了孤立的透氨酸炎和发育迟缓,肌酸化酶显著升高 (15625 U/L).
- 肝功能测试和成像是正常的,排除了原发性肝病.
- 整体外体序列测定在SYNE2基因中发现了异合体拼接区域变异,证实了EDMD 5.
结论:
- 这种病例表明了Emery-Dreifuss肌肉发育不良5的非典型婴儿表现,并带有透视膜炎.
- 婴儿中转氨基酶的升高需要对非肝脏病因进行调查,包括罕见的遗传肌肉病变.
- 整体外基因组测序是诊断EDMD5等复杂遗传疾病的宝贵工具.
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