21三体新生儿十二指肠闭锁的不典型表现:一个模拟病例报告和叙述回顾。

IF 1.1 4区 医学 Q3 PEDIATRICS
Courtney W Tam, Shivani Patel, Jasmine Massoumi, Aditya Manuel, Amy Yeh, Hemananda Muniraman
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引用次数: 0

摘要

十二指肠闭锁与染色体异常密切相关,尤其是21三体。高达60%的病例在产前发现十二指肠闭锁,肠梗阻通常有体征,包括进食困难、呕吐(特别是在出生后24至48小时)、腹胀和产后不能排出胎便。在这篇文章中,我们提出了一个模拟的21三体新生儿病例,他在2周大时出现体重增加不佳和喂养不耐受的评估,并被诊断为十二指肠闭锁。影像学是诊断和影像学的主要手段,如腹部x线片或上消化道检查,将显示“双泡”征象。图示十二指肠及胃近端扩张,提示十二指肠闭锁。治疗通常包括手术矫正以绕过梗阻和肠外营养,因为肠内喂养通常在术后缓慢引入。早期诊断和多学科合作是成功治疗的关键。[j].儿科学,2025;54(4):e139-e143。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Atypical Presentation of Duodenal Atresia in a Newborn With Trisomy 21: A Simulated Case Report and Narrative Review.

Duodenal atresia has a strong association with chromosomal anomalies, particularly trisomy 21. Duodenal atresia is identified prenatally in up to 60% of cases, and intestinal obstructions often present with signs, including difficulty feeding, emesis (particularly in the first 24 to 48 hours of life), abdominal distension, and inability to pass meconium in the immediate postnatal period. In this article, we present a simulated case of a neonate with trisomy 21 who presented at age 2 weeks for evaluation of poor weight gain and feeding intolerance and was diagnosed with duodenal atresia. Imaging is the mainstay of diagnosis and imaging modalities, such as abdominal radiographs or upper gastrointestinal studies, will reveal a "double bubble" sign. This sign indicates proximal dilation of the duodenum and stomach, suggesting duodenal atresia. Management often involves surgical correction to bypass the obstruction and parenteral nutrition, as enteral feeds are often introduced slowly postoperatively. Early diagnosis and a collaborative multidisciplinary approach are vital to successful treatment. [Pediatr Ann. 2025;54(4):e139-e143.].

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来源期刊
Pediatric Annals
Pediatric Annals 医学-小儿科
CiteScore
1.80
自引率
0.00%
发文量
104
审稿时长
2 months
期刊介绍: Published for more than 40 years, Pediatric Annals is an online-only, monthly medical review journal dedicated to providing pediatricians and other clinicians with the latest practical information on the diagnosis and treatment of pediatric diseases and disorders. Begin to explore the Journal and all of its great benefits such as: -Single-topic summary reviews of important trends in pediatric medicine -Access to current articles, as well as several years of archived content -Columns including Healthy Baby/Healthy Child and Case Challenges
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