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一例罕见的脑桥被盖帽发育异常病例。

A rare case of pontine tegmental cap dysplasia.

作者信息

Maree Mosab, Rajab Islam, Leung Andrew Edward, Tay Keng Yeow, Hiremath Shivaprakash B

机构信息

London Health Sciences Center, Western University, Department of Medical Imaging, London, Canada.

Faculty of Medicine and Health Sciences, An-Najah National University,Nablus, 44839, Palestine.

出版信息

Radiol Case Rep. 2025 Jan 8;20(3):1736-1739. doi: 10.1016/j.radcr.2024.12.042. eCollection 2025 Mar.

DOI:10.1016/j.radcr.2024.12.042
PMID:39868068
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11760794/
Abstract

Pontine Tegmental Cap Dysplasia (PTCD) is a rare hindbrain malformation characterized by cranial nerve dysfunction, cerebellar abnormalities, and developmental delays of varying severity. This case report presents a 12-month-old female with significant developmental delays, hypotonia, and cranial nerve abnormalities. The findings underscore the critical role of radiology and neuroimaging in diagnosing and managing PTCD. Additionally, this case highlights the importance of neuroimaging in differentiating PTCD from other possible diagnoses and malformations.

摘要

脑桥被盖部发育不全(PTCD)是一种罕见的后脑畸形,其特征为颅神经功能障碍、小脑异常以及不同严重程度的发育迟缓。本病例报告介绍了一名12个月大的女性,她有明显的发育迟缓、肌张力减退和颅神经异常。这些发现强调了放射学和神经影像学在PTCD诊断和管理中的关键作用。此外,本病例突出了神经影像学在鉴别PTCD与其他可能诊断及畸形方面的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd03/11760794/f4f14bf6faf5/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd03/11760794/f4f14bf6faf5/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd03/11760794/f4f14bf6faf5/gr1.jpg

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1
A rare case of pontine tegmental cap dysplasia.一例罕见的脑桥被盖帽发育异常病例。
Radiol Case Rep. 2025 Jan 8;20(3):1736-1739. doi: 10.1016/j.radcr.2024.12.042. eCollection 2025 Mar.
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本文引用的文献

1
Pontine tegmental cap dysplasia: the role of diffusion tensor imaging.桥脑被盖帽畸形:弥散张量成像的作用。
BMJ Case Rep. 2023 Nov 22;16(11):e253556. doi: 10.1136/bcr-2022-253556.
2
Fetal Pontine Tegmental Cap Dysplasia- A Case Report.胎儿桥脑被盖发育不良-病例报告。
Neurol India. 2022 Jul-Aug;70(4):1652-1654. doi: 10.4103/0028-3886.355094.
3
Pontocerebellar Hypoplasia Maps to Chromosome 7q11.23: An Autopsy Case Report of a Novel Genetic Variant.桥脑小脑发育不全定位于染色体7q11.23:一个新型基因变异的尸检病例报告
Case Rep Pediatr. 2019 Dec 10;2019:7048537. doi: 10.1155/2019/7048537. eCollection 2019.
4
Pontine tegmental cap dysplasia with a duplicated internal auditory canal.脑桥被盖部发育不全伴内耳道重复
Radiol Case Rep. 2019 Apr 25;14(7):825-828. doi: 10.1016/j.radcr.2019.04.009. eCollection 2019 Jul.
5
Clinicoradiological aspects of pontine tegmental cap dysplasia: Case report of a rare hindbrain malformation.脑桥被盖部发育异常的临床影像学表现:一种罕见后脑畸形的病例报告
Indian J Radiol Imaging. 2018 Jan-Mar;28(1):18-21. doi: 10.4103/ijri.IJRI_25_17.
6
Pontine Tegmental Cap Dysplasia in an Extremely Preterm Infant and Review of the Literature.一名极早产儿的脑桥被盖部发育异常及文献综述
J Child Neurol. 2017 Mar;32(3):334-340. doi: 10.1177/0883073816680748. Epub 2016 Dec 20.
7
Moebius syndrome: clinical features, diagnosis, management and early intervention.梅比厄斯综合征:临床特征、诊断、管理及早期干预
Ital J Pediatr. 2016 Jun 3;42(1):56. doi: 10.1186/s13052-016-0256-5.
8
Temporal bone and cranial nerve findings in pontine tegmental cap dysplasia.脑桥被盖帽发育异常中的颞骨及颅神经表现
Neuroradiology. 2016 Feb;58(2):179-87. doi: 10.1007/s00234-015-1604-7. Epub 2015 Oct 12.
9
Congenital abnormalities of the posterior fossa.后颅窝先天性异常。
Radiographics. 2015 Jan-Feb;35(1):200-20. doi: 10.1148/rg.351140038.
10
Pontine tegmental cap dysplasia: report of two new cases from Kuwait.脑桥被盖部发育不良:科威特两例新病例报告。
Eur J Paediatr Neurol. 2015 Jan;19(1):93-7. doi: 10.1016/j.ejpn.2014.08.005. Epub 2014 Sep 3.