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米勒-迪克综合征合并右冠状动脉异常起源于肺动脉致早产儿急性肠缺血

Acute Bowel Ischemia in a Premature Neonate with Miller-Dieker Syndrome and Anomalous Right Coronary Artery From the Pulmonary Artery.

出版信息

Pediatr Ann. 2023 Aug;52(8):e283-e291. doi: 10.3928/19382359-20230613-02. Epub 2023 Aug 1.

DOI:10.3928/19382359-20230613-02
PMID:37561828
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10878796/
Abstract

Miller-Dieker syndrome (MDS) is a rare disease characterized by type I lissencephaly, craniofacial dysmorphisms, intellectual disability, seizures, and death in early childhood. We report a case of a premature infant with MDS with an anomalous right coronary artery from the pulmonary artery who developed sudden bowel ischemia. This case prompts the reconsideration of cardiovascular involvement in patients with MDS. In addition, this review highlights key clinical features and reviews the critical manifestations of MDS that persist into childhood. .

摘要

米勒-迪克综合征（MDS）是一种罕见疾病，其特征为 I 型无脑回畸形、颅面发育不良、智力障碍、癫痫发作和婴幼儿期死亡。我们报告了一例 MDS 合并源自肺动脉的异常右冠状动脉的早产儿病例，该患儿发生了突发性肠缺血。该病例提示我们重新考虑 MDS 患者的心血管受累问题。此外，该综述强调了 MDS 的关键临床特征，并回顾了持续至儿童期的 MDS 的关键表现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8889/10878796/85e1a4fa2922/nihms-1964397-f0005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8889/10878796/6c68ebd9fc78/nihms-1964397-f0001.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8889/10878796/f9804c8365ce/nihms-1964397-f0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8889/10878796/85e1a4fa2922/nihms-1964397-f0005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8889/10878796/6c68ebd9fc78/nihms-1964397-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8889/10878796/e1c336ea0db4/nihms-1964397-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8889/10878796/56b46cad41bb/nihms-1964397-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8889/10878796/f9804c8365ce/nihms-1964397-f0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8889/10878796/85e1a4fa2922/nihms-1964397-f0005.jpg

相似文献

1
Acute Bowel Ischemia in a Premature Neonate with Miller-Dieker Syndrome and Anomalous Right Coronary Artery From the Pulmonary Artery.米勒-迪克综合征合并右冠状动脉异常起源于肺动脉致早产儿急性肠缺血
Pediatr Ann. 2023 Aug;52(8):e283-e291. doi: 10.3928/19382359-20230613-02. Epub 2023 Aug 1.
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本文引用的文献

1
Cardiac imaging findings in anomalous origin of the coronary arteries from the pulmonary artery; narrative review of the literature.肺动脉起源的冠状动脉异常的心脏影像学表现；文献综述
Echo Res Pract. 2022 Dec 6;9(1):12. doi: 10.1186/s44156-022-00012-7.
2
Histopathologic Findings Associated with Miller-Dieker Syndrome: An Autopsy Report.与米勒-迪克尔综合征相关的组织病理学发现：一份尸检报告。
Diseases. 2022 Nov 1;10(4):95. doi: 10.3390/diseases10040095.
3
Prenatal diagnosis of Miller-Dieker syndrome/PAFAH1B1-related lissencephaly: Ultrasonography and genetically investigative results.
产前诊断 Miller-Dieker 综合征/PAFAH1B1 相关无脑回畸形：超声影像学与遗传学研究结果。
Eur J Obstet Gynecol Reprod Biol. 2022 Jul;274:28-32. doi: 10.1016/j.ejogrb.2022.04.025. Epub 2022 May 6.
4
Lissencephaly: Update on diagnostics and clinical management.无脑回畸形：诊断与临床管理的最新进展。
Eur J Paediatr Neurol. 2021 Nov;35:147-152. doi: 10.1016/j.ejpn.2021.09.013. Epub 2021 Oct 7.
5
Coronary Artery Anomalies.冠状动脉异常。
Circulation. 2021 Sep 21;144(12):983-996. doi: 10.1161/CIRCULATIONAHA.121.055347. Epub 2021 Sep 20.
6
International consensus recommendations on the diagnostic work-up for malformations of cortical development.国际脑皮质发育畸形诊断工作共识建议。
Nat Rev Neurol. 2020 Nov;16(11):618-635. doi: 10.1038/s41582-020-0395-6. Epub 2020 Sep 7.
7
Anomalous Left Coronary Artery from Pulmonary Artery: An Important Cause of Ischemic Mitral Regurgitation in Children.起源于肺动脉的异常左冠状动脉：儿童缺血性二尖瓣反流的重要原因
Cureus. 2019 Apr 12;11(4):e4441. doi: 10.7759/cureus.4441.
8
Anomalous origin of right coronary artery from pulmonary artery presenting as chest pain in a young man.一名年轻男性因右冠状动脉起源于肺动脉异常而出现胸痛
J Cardiol Cases. 2011 Oct 22;5(1):e20-e22. doi: 10.1016/j.jccase.2011.09.007. eCollection 2012 Feb.
9
Anomalous origin of the right coronary artery from the pulmonary artery associated with an aortopulmonary window.右冠状动脉起源于肺动脉并伴有主肺动脉窗异常。
Ann Pediatr Cardiol. 2018 Sep-Dec;11(3):325-327. doi: 10.4103/apc.APC_65_18.
10
Case Report of Proliferative Peripheral Retinopathy in Two Familial Lissencephaly Infants with Miller-Dieker Syndrome.两例患有米勒-迪克尔综合征的家族性无脑回畸形婴儿的增生性周边视网膜病变病例报告。
J Pediatr Genet. 2018 Jun;7(2):86-91. doi: 10.1055/s-0037-1612638. Epub 2017 Dec 29.