拉脱维亚第一个登记的0型脊髓性肌萎缩症患者:呼吁改变产前诊断程序。

IF 0.8 Q3 MEDICINE, GENERAL & INTERNAL
Tīna Luīze Čupāne, Mikus Dīriks, Gita Tauriņa, Liene Korņejeva, Linda Gailīte, Ieva Mālniece, Madara Auzenbaha
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引用次数: 0

摘要

本病例报告介绍了拉脱维亚第一例0型脊髓性肌萎缩症(SMA)的注册患者。在未出生患者的妊娠早期超声检查中,发现颈褶厚度增加。这位母亲报告说,怀孕期间胎动减少。这个男孩出生后,他的一般情况非常严重。临床症状显示疑似神经肌肉紊乱。出生后7天,通过对所有父母同意参加的新生儿进行SMA试点筛查,确定了精确的诊断,即0型SMA。婴儿的情况恶化了。他有严重的呼吸窘迫,随后发生了多种事件导致他死亡。目前,只有少数已发表的病例报告详细介绍了增加的颈部透明度(NT)测量与胎儿SMA诊断的关系。然而,增加的NT测量是一个临床相关的迹象,因为它可能与遗传综合征,胎儿畸形,中断和发育不良有关。由于目前没有治愈0型SMA婴儿的方法,因此能够在产前检测出这种疾病,以便为患者和父母提供最好的护理是至关重要的。除其他措施外,这包括为患者提供姑息治疗。本病例报告强调了与0型SMA相关的产前体征和症状。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The First Registered Type 0 Spinal Muscular Atrophy Patient in Latvia: Call for Change in Prenatal Diagnostic Procedures.

This case report presents the first registered patient in Latvia with type 0 spinal muscular atrophy (SMA). During the first-trimester ultrasonography of the unborn patient, an increased thickness of the nuchal fold was detected. The mother reported decreased foetal movements during the pregnancy. After the boy was born, his general condition was extremely severe. The clinical signs indicated a suspected neuromuscular disorder. A precise diagnosis, type 0 SMA, was determined 7 days after birth through a newborn pilot-screening for SMA, which was conducted for all newborns whose parents consented to participate. The condition of the infant deteriorated. He had severe respiratory distress followed by multiple events leading to his death. Currently, there are only a few published case reports detailing an increased nuchal translucency (NT) measurement in association with a diagnosis of SMA in the foetus. However, an increased NT measurement is a clinically relevant sign as it can be related to genetic syndromes, foetal malformations, disruptions, and dysplasias. Since there is no cure for infants with type 0 SMA at present, it is crucial to be able to detect this disease prenatally in order to provide the best possible care for the patient and parents. This includes the provision of palliative care for the patient, among other measures. This case report highlights the prenatal signs and symptoms in relation to type 0 SMA.

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来源期刊
Case Reports in Medicine
Case Reports in Medicine MEDICINE, GENERAL & INTERNAL-
CiteScore
1.70
自引率
0.00%
发文量
53
审稿时长
13 weeks
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