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首页> 外文期刊>Journal of Korean medical science. >A Case Report on 30-Week Premature Twin Babies with Congenital Myotonic Dystrophy Conceived by In Vitro Fertilization
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A Case Report on 30-Week Premature Twin Babies with Congenital Myotonic Dystrophy Conceived by In Vitro Fertilization

机译：受精受孕30周先天性肌强直性营养不良的一例报道

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摘要

Congenital myotonic dystrophy type 1 (DM1) presents severe generalized weakness, hypotonia, and respiratory compromise after delivery with high mortality and poor prognosis. We presented a congenital DM1 of premature twins in the 30th week of gestation. These twins were conceived by in vitro fertilization (IVF). Both babies presented apnea and hypotonia and had characteristic facial appearance. They were diagnosed DM1 by genetic method. They were complicated by chylothorax and expired at 100 and 215 days of age, respectively. Mother was diagnosed DM1 during the evaluation of babies. This is the first report on congenital DM1 which accompanied the chylothorax. More investigation on the association with chylothorax and congenital DM1 is recommended. With a case of severe neonatal hypotonia, congenital DM1 should be differentiated in any gestational age. Finally, since DM1 is a cause of infertility, we should consider DM1 in infertility clinic with detailed history and physical examination.
机译：1型先天性肌强直性营养不良（DM1）表现为严重的全身无力，肌张力低下和分娩后呼吸功能减退，死亡率高，预后差。我们在妊娠的第30周提出了早产双胎先天性DM1。这些双胞胎是通过体外受精（IVF）进行孕育的。两个婴儿均出现呼吸暂停和肌张力低下，并具有特征性的面部外观。他们通过遗传方法被诊断为DM1。他们因乳糜胸而复杂化，分别在100和215日龄时死亡。母亲在评估婴儿时被诊断为DM1。这是伴随乳糜胸的先天性DM1的首次报道。建议对乳糜胸与先天性DM1的关联进行更多研究。对于严重的新生儿肌张力低下的情况，先天性DM1应该在任何胎龄中进行区分。最后，由于DM1是导致不孕的原因，我们应该在不育诊所考虑到DM1的详细病史和体格检查。

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