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交替性下斜视伴假性上睑下垂:先天性颅神经支配障碍的一种新表型。

Alternating Hypotropia with Pseudoptosis: A New Phenotype of Congenital Cranial Dysinnervation Disorder.

作者信息

Sedarous Fady, Chan Toby Y B, Makar Inas

机构信息

University of Toronto, Toronto, Ontario, Canada.

McMaster University, Waterloo Regional Campus, Kitchener, Ontario, Canada.

出版信息

Case Rep Ophthalmol. 2018 Feb 1;9(1):96-101. doi: 10.1159/000485832. eCollection 2018 Jan-Apr.

DOI:10.1159/000485832
PMID:29643789
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5892332/
Abstract

Congenital cranial dysinnervation disorders, also known as CCDDs, are characterized by aberrant innervation to extraocular and facial muscles resulting in unusual forms of incomitant strabismus. Anomalous innervation to extraocular muscles can result in a wide variety of phenotypes causing various clinical conditions such as Duane syndrome, congenital fibrosis of the extraocular muscles, and Möbius syndrome. We report a case of bilateral dysinnervation disorder causing atypical ocular movements in both eyes as the patient changes fixation from one eye to the other and from right gaze to left gaze that fits with the wider diagnosis of CCDDs.

摘要

先天性颅神经支配障碍,也称为CCDDs,其特征是眼外肌和面部肌肉的神经支配异常,导致不寻常形式的非共同性斜视。眼外肌的异常神经支配可导致多种表型,引发各种临床病症,如杜安综合征、眼外肌先天性纤维化和莫比乌斯综合征。我们报告了一例双侧神经支配障碍病例,当患者将注视从一只眼睛转移到另一只眼睛以及从右侧注视转移到左侧注视时,双眼出现非典型眼球运动,这符合CCDDs的更广泛诊断。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/73d6/5892332/0be48af3db23/cop-0009-0096-g03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/73d6/5892332/c9a468aca522/cop-0009-0096-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/73d6/5892332/0149e41e16bd/cop-0009-0096-g02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/73d6/5892332/0be48af3db23/cop-0009-0096-g03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/73d6/5892332/c9a468aca522/cop-0009-0096-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/73d6/5892332/0149e41e16bd/cop-0009-0096-g02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/73d6/5892332/0be48af3db23/cop-0009-0096-g03.jpg

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引用本文的文献

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本文引用的文献

1
Possible rare congenital dysinnervation disorder: congenital ptosis associated with adduction.可能的罕见先天性去神经支配障碍:伴有内收的先天性上睑下垂。
Strabismus. 2015;23(1):33-5. doi: 10.3109/09273972.2014.999797. Epub 2015 Jan 12.
2
Congenital cranial dysinnervation disorders: a concept in evolution.先天性颅神经发育障碍:进化中的一个概念。
Curr Opin Ophthalmol. 2013 Sep;24(5):398-406. doi: 10.1097/ICU.0b013e3283645ad6.
3
Human disorders of axon guidance.人类轴突导向障碍。
Curr Opin Neurobiol. 2012 Oct;22(5):837-43. doi: 10.1016/j.conb.2012.02.006. Epub 2012 Mar 5.
4
Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs).先天性神经支配发育不良综合征(CID)/先天性颅神经发育障碍(CCDDs)。
Eye (Lond). 2011 Oct;25(10):1251-61. doi: 10.1038/eye.2011.38. Epub 2011 Jul 1.
5
Recent progress in understanding congenital cranial dysinnervation disorders.先天性颅神经发育障碍的研究进展。
J Neuroophthalmol. 2011 Mar;31(1):69-77. doi: 10.1097/WNO.0b013e31820d0756.
6
Human genetic disorders of axon guidance.人类轴突导向的遗传障碍。
Cold Spring Harb Perspect Biol. 2010 Mar;2(3):a001784. doi: 10.1101/cshperspect.a001784.
7
A novel form of aberrant innervation in congenital cranial dysinnervation disorder.先天性颅神经支配障碍中一种新型的异常神经支配形式。
J AAPOS. 2009 Feb;13(1):105-6. doi: 10.1016/j.jaapos.2008.07.011. Epub 2008 Oct 19.
8
Oculomotility disorders arising from disruptions in brainstem motor neuron development.由脑干运动神经元发育中断引起的眼球运动障碍。
Arch Neurol. 2007 May;64(5):633-7. doi: 10.1001/archneur.64.5.633.
9
Congenital ocular aberrant innervation--new concepts.先天性眼异常神经支配——新概念
J Pediatr Ophthalmol Strabismus. 1997 Jan-Feb;34(1):10-6. doi: 10.3928/0191-3913-19970101-04.