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病例报告是先天性肌肉性缩症,并有多个产前超声波发现

Zita Strelcovienė¹, Eglė Machtejevienė¹, Meilė Minkauskienė¹

¹Medical Academy, Department of Obstetrics and Gynaecology, Lithuanian University of Health Sciences, Kaunas, Lithuania.

Case reports in perinatal medicine

|May 5, 2025

概括

遗传性肌性损伤 (cDM) 诊断包括产前超声波发现,如四肢异常和多水,促使母亲进行神经学检查和肌性损伤的基因检测.

科学领域:

神经学神经学
遗传学遗传学是一个
产科产科产科产科产科

背景情况:

肌性失调1 (DM1) 是一种遗传性神经肌肉疾病.
先天性肌肉性缩症 (cDM) 是最严重的形式.
由于非特定的超声波发现,产前诊断cDM具有挑战性.

研究的目的:

介绍一例产前诊断的先天性肌痛性缩症的病例.
要突出关键的超声波标记和cDM的诊断步骤.

主要方法:

在怀孕32周进行详细的产前超声波检查.
为母亲进行神经学咨询,包括对握力肌的评估.
对羊水和母亲血液进行DMPK基因重复的基因检测.

主要成果:

观察到严重的多水,胎儿四肢动脉动,大脑症和胸腔溢液.
确认了母亲握手肌,这是DM1的病理学标志.
在母体和胎儿中确定了超过150个DMPK基因重复,证实了DM1.

结论:

胎儿四肢异常和多水的超声波发现表明DM1.
母亲神经学检查和遗传检测对于产前诊断DM1至关重要.

关键词:

关节形的情况.遗传性肌肉性缩症是先天性的.巨头症和心室巨头症.隔膜的病理隔膜的病理聚胺的多化物.

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