超越症候群:21三体婴儿的广泛先天性异常

IF 1.9 Q3 PATHOLOGY
Jeremy D. Ward, Mahesh S Sharma, M. Pizzuto, V. Moylan, F. Askin, D. Kaufman
{"title":"超越症候群:21三体婴儿的广泛先天性异常","authors":"Jeremy D. Ward, Mahesh S Sharma, M. Pizzuto, V. Moylan, F. Askin, D. Kaufman","doi":"10.1177/2632010X221088966","DOIUrl":null,"url":null,"abstract":"Herein we discuss the clinical course and subsequent autopsy of a female infant with trisomy 21 with balanced Rastelli Type “C” complete atrioventricular septal defect (AVSD), tetralogy of Fallot and right aortic arch with mirror image branching pattern who underwent a palliative right modified Blalock-Taussig-Thomas shunt (mBTTS) for hypoxemia from progressive right ventricular outflow tract obstruction. The baby was found to have multiple concomitant pathologic findings not typically seen with this constellation of cardiac anatomy. Autopsy revealed significant abdominal adhesions with near-complete stenosis of the transverse colon. In addition, the infant was found to have significantly elongated villi within the small and large bowel and a relatively large collagenous polyp in the small bowel. The decedent also had an abnormal tracheal bronchus, characterized by an additional superior right-sided bronchus, which is an extremely rare abnormality. Her clinical course was complicated by severe pulmonary hypertensive arteriolar changes out of proportion to what would be typical for her age, trisomy 21 status, and degree of left to right intracardiac shunting. Furthermore, she had refractory anasarca and recurrent chylous pleural effusions without gross lymphatic abnormalities that may have been secondary to systemic capillary leak syndrome (SCLS) versus severe pulmonary hypertension. Due to the aforementioned findings, the family elected for comfort care and the baby expired shortly after extubation. Overall, the infant had multiple, rare coexisting congenital abnormalities that likely represents an extreme phenotype of trisomy 21 that has not been described in the literature to date.","PeriodicalId":53204,"journal":{"name":"Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":1.9000,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Beyond the Syndrome: Extensive Congenital Abnormalities in an Infant With Trisomy 21\",\"authors\":\"Jeremy D. Ward, Mahesh S Sharma, M. Pizzuto, V. Moylan, F. Askin, D. Kaufman\",\"doi\":\"10.1177/2632010X221088966\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Herein we discuss the clinical course and subsequent autopsy of a female infant with trisomy 21 with balanced Rastelli Type “C” complete atrioventricular septal defect (AVSD), tetralogy of Fallot and right aortic arch with mirror image branching pattern who underwent a palliative right modified Blalock-Taussig-Thomas shunt (mBTTS) for hypoxemia from progressive right ventricular outflow tract obstruction. The baby was found to have multiple concomitant pathologic findings not typically seen with this constellation of cardiac anatomy. Autopsy revealed significant abdominal adhesions with near-complete stenosis of the transverse colon. In addition, the infant was found to have significantly elongated villi within the small and large bowel and a relatively large collagenous polyp in the small bowel. The decedent also had an abnormal tracheal bronchus, characterized by an additional superior right-sided bronchus, which is an extremely rare abnormality. Her clinical course was complicated by severe pulmonary hypertensive arteriolar changes out of proportion to what would be typical for her age, trisomy 21 status, and degree of left to right intracardiac shunting. Furthermore, she had refractory anasarca and recurrent chylous pleural effusions without gross lymphatic abnormalities that may have been secondary to systemic capillary leak syndrome (SCLS) versus severe pulmonary hypertension. Due to the aforementioned findings, the family elected for comfort care and the baby expired shortly after extubation. Overall, the infant had multiple, rare coexisting congenital abnormalities that likely represents an extreme phenotype of trisomy 21 that has not been described in the literature to date.\",\"PeriodicalId\":53204,\"journal\":{\"name\":\"Clinical Pathology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.9000,\"publicationDate\":\"2022-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Pathology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1177/2632010X221088966\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Pathology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/2632010X221088966","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"PATHOLOGY","Score":null,"Total":0}
引用次数: 0

摘要

在此,我们讨论了一例21三体女婴的临床过程和随后的尸检,该女婴患有平衡型Rastelli“C”型完全性房室间隔缺损(AVSD),法洛四联症和具有镜像分支模式的右主动脉弓,因进行性右心室流出道梗阻引起的低氧血症接受了姑息性右改良Blalock-Taussig-Thomas分流(mBTTS)。婴儿被发现有多种伴随的病理学发现,这在心脏解剖结构中是不常见的。尸检显示有明显的腹部粘连,横结肠几乎完全狭窄。此外,婴儿的小肠和大肠绒毛明显拉长,小肠有相对较大的胶原息肉。死者还有一个异常的气管支气管,其特征是额外的右上支气管,这是一种极为罕见的异常。她的临床过程因严重的肺动脉高压小动脉变化而变得复杂,这些变化与她的年龄、21三体状态和左向右心内分流的程度不相称。此外,她有难治性肛门积液和复发性乳糜性胸腔积液,无明显淋巴异常,可能继发于系统性毛细血管渗漏综合征(SCLS)和严重肺动脉高压。由于上述发现,这家人选择了舒适护理,婴儿在拔管后不久就过期了。总的来说,婴儿有多种罕见的并存先天性异常,这可能代表了21三体的极端表型,迄今为止文献中尚未描述。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Beyond the Syndrome: Extensive Congenital Abnormalities in an Infant With Trisomy 21
Herein we discuss the clinical course and subsequent autopsy of a female infant with trisomy 21 with balanced Rastelli Type “C” complete atrioventricular septal defect (AVSD), tetralogy of Fallot and right aortic arch with mirror image branching pattern who underwent a palliative right modified Blalock-Taussig-Thomas shunt (mBTTS) for hypoxemia from progressive right ventricular outflow tract obstruction. The baby was found to have multiple concomitant pathologic findings not typically seen with this constellation of cardiac anatomy. Autopsy revealed significant abdominal adhesions with near-complete stenosis of the transverse colon. In addition, the infant was found to have significantly elongated villi within the small and large bowel and a relatively large collagenous polyp in the small bowel. The decedent also had an abnormal tracheal bronchus, characterized by an additional superior right-sided bronchus, which is an extremely rare abnormality. Her clinical course was complicated by severe pulmonary hypertensive arteriolar changes out of proportion to what would be typical for her age, trisomy 21 status, and degree of left to right intracardiac shunting. Furthermore, she had refractory anasarca and recurrent chylous pleural effusions without gross lymphatic abnormalities that may have been secondary to systemic capillary leak syndrome (SCLS) versus severe pulmonary hypertension. Due to the aforementioned findings, the family elected for comfort care and the baby expired shortly after extubation. Overall, the infant had multiple, rare coexisting congenital abnormalities that likely represents an extreme phenotype of trisomy 21 that has not been described in the literature to date.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Clinical Pathology
Clinical Pathology PATHOLOGY-
CiteScore
2.20
自引率
7.70%
发文量
66
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信