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菱脑融合：一种罕见的后脑畸形。

Rhombencephalosynapsis: A Rare Hindbrain Malformation.

作者信息

Khaladkar Sanjay M, Jhala Neeha A, Shukla Amanya, Shah Rohan, Durgi Eshan Chetan

机构信息

Radiodiagnosis, Dr. D. Y. Patil Medical College, Hospital & Research Centre, Dr. D. Y. Patil Vidyapeeth, Pune, IND.

出版信息

Cureus. 2024 Jul 26;16(7):e65400. doi: 10.7759/cureus.65400. eCollection 2024 Jul.

DOI:10.7759/cureus.65400
PMID:39184610
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11344872/
Abstract

Rhombencephalosynapsis (RES) is a rare condition found in the pediatric population. It occurs due to a fundamental failure of vermian differentiation caused by faulty gene expression in the earliest patterning areas of the brain between days 28 and 41 of gestation, resulting in a fused cerebellum. This report aims to discuss cases of this rare hindbrain malformation, identify its features on MRI, diagnose any associated anomalies, classify it based on severity, and study its syndromic associations. We report two rare cases of RES in patients presenting with complaints of ataxia, global motor developmental delay, hypotonia, and dysarthria, who underwent an MRI of the brain.

摘要

菱脑融合（RES）是一种在儿科人群中发现的罕见病症。它是由于在妊娠第28天至41天期间大脑最早的模式形成区域中基因表达错误导致蚓部分化基本失败而发生的，从而导致小脑融合。本报告旨在讨论这种罕见的后脑畸形病例，确定其在磁共振成像（MRI）上的特征，诊断任何相关异常，根据严重程度对其进行分类，并研究其综合征关联。我们报告了两例罕见的RES病例，患者表现为共济失调、整体运动发育迟缓、肌张力减退和构音障碍，并接受了脑部MRI检查。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0baf/11344872/9118c7751474/cureus-0016-00000065400-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0baf/11344872/e9ef677a647a/cureus-0016-00000065400-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0baf/11344872/eba5554e25f3/cureus-0016-00000065400-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0baf/11344872/1569ca65aac8/cureus-0016-00000065400-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0baf/11344872/382fbe9c839f/cureus-0016-00000065400-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0baf/11344872/9118c7751474/cureus-0016-00000065400-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0baf/11344872/e9ef677a647a/cureus-0016-00000065400-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0baf/11344872/eba5554e25f3/cureus-0016-00000065400-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0baf/11344872/1569ca65aac8/cureus-0016-00000065400-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0baf/11344872/382fbe9c839f/cureus-0016-00000065400-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0baf/11344872/9118c7751474/cureus-0016-00000065400-i05.jpg

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本文引用的文献

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Rhombencephalosynapsis: Fused cerebellum, confused geneticists.菱脑融合：融合的小脑，困惑的遗传学家。
Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):432-439. doi: 10.1002/ajmg.c.31666.
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Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.菱形脑回融合畸形：一种与中脑和前脑不完全分离、脑积水以及广泛严重程度相关的后脑畸形。
Brain. 2012 May;135(Pt 5):1370-86. doi: 10.1093/brain/aws065. Epub 2012 Mar 26.
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