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先天性眼球运动异常的多种表现:它们都符合先天性颅神经发育障碍谱系吗?

Varied presentations of congenital ocular synkinesis: do they all fit congenital cranial dysinnervation disorder spectrum?

机构信息

Hospital Federal dos Servidores do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.

Instituto Strabos, São Paulo, SP, Brazil.

出版信息

Arq Bras Oftalmol. 2021 Jul-Aug;84(4):374-379. doi: 10.5935/0004-2749.20210065.

DOI:10.5935/0004-2749.20210065
PMID:34008802
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11826605/
Abstract

PURPOSE

Synkinesis results from nerve miswirings and causes aberrant movements of the affected muscles. We present a series of cases of rare congenital ocular synkinesis involving the extraocular muscles and the levator palpebrae superioris and speculate the possibility of classifying these entities in the spectrum of congenital cranial dysinnervation disorder.

METHODS

Records of patients with the diagnosis of congenital ocular synkinesis were analyzed retrospectively. We analyzed the sex, laterality, and complete features of the ocular motility of each patient.

RESULTS

Nine patients with congenital ocular synkinesis were included. A slight predominance of women was noted. In terms of laterality, four patients had only the right eye involved, four had only the left eye, and one had both eyes involved. Notably, 55.5% were orthotropic in the primary position. The third, fourth, and sixth cranial nerves were involved in the miswiring in 100%, 44.4%, and 11.1% of the cases, respectively.

CONCLUSIONS

Congenital synkinesis might present in a very eclectic and uncommon fashion. The aberrant innervation in these cases classifies them into the group of congenital cranial dysinnervation disorders.

摘要

目的

联带运动是由神经错配引起的,导致受影响肌肉的异常运动。我们报告了一系列罕见的先天性眼肌联带运动的病例,涉及眼外肌和上睑提肌,并推测这些疾病可能属于先天性颅神经发育障碍的范畴。

方法

回顾性分析诊断为先天性眼肌联带运动的患者的病历。我们分析了每位患者的性别、偏侧性和眼球运动的完整特征。

结果

共纳入 9 例先天性眼肌联带运动患者。女性略占优势。就偏侧性而言,4 例仅右眼受累,4 例仅左眼受累,1 例双眼受累。值得注意的是,55.5%的患者在第一眼位为正位。第三、四、六对颅神经在受累病例中分别占 100%、44.4%和 11.1%。

结论

先天性联带运动可能表现出非常独特和不常见的方式。这些病例中的异常神经支配将其归类为先天性颅神经发育障碍疾病。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fba3/11826605/abfd9ed5fbf0/abo-84-04-0374-g04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fba3/11826605/4e3e8d58964f/abo-84-04-0374-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fba3/11826605/c43a6a941414/abo-84-04-0374-g02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fba3/11826605/a8ebf00adbb6/abo-84-04-0374-g03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fba3/11826605/abfd9ed5fbf0/abo-84-04-0374-g04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fba3/11826605/4e3e8d58964f/abo-84-04-0374-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fba3/11826605/c43a6a941414/abo-84-04-0374-g02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fba3/11826605/a8ebf00adbb6/abo-84-04-0374-g03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fba3/11826605/abfd9ed5fbf0/abo-84-04-0374-g04.jpg

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本文引用的文献

1
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Arq Bras Oftalmol. 2019 Jan-Feb;82(1):65-67. doi: 10.5935/0004-2749.20190013.
2
Alternating Hypotropia with Pseudoptosis: A New Phenotype of Congenital Cranial Dysinnervation Disorder.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。
Case Rep Ophthalmol. 2018 Feb 1;9(1):96-101. doi: 10.1159/000485832. eCollection 2018 Jan-Apr.
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Imaging of Cranial Nerves III, IV, VI in Congenital Cranial Dysinnervation Disorders.
先天性颅神经支配障碍中第三、四、六颅神经的影像学表现
Korean J Ophthalmol. 2017 Jun;31(3):183-193. doi: 10.3341/kjo.2017.0024. Epub 2017 May 12.
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Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance.眼部先天性颅神经支配障碍(CCDDs):对轴突生长和导向的见解
Hum Mol Genet. 2017 Aug 1;26(R1):R37-R44. doi: 10.1093/hmg/ddx168.
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Congenital cranial dysinnervation disorders.先天性颅神经支配障碍性疾病
Int Ophthalmol. 2017 Dec;37(6):1369-1381. doi: 10.1007/s10792-016-0388-z. Epub 2016 Nov 11.
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Congenital third nerve palsy with synergistic depression on attempted adduction and trigemino-oculomotor synkinesis: Underpinnings of a spectral dysinnervation disorder.先天性动眼神经麻痹伴内收企图时协同性眼球下转及三叉神经 - 动眼神经联合运动:一种频谱性神经支配障碍的基础
Indian J Ophthalmol. 2016 May;64(5):397-8. doi: 10.4103/0301-4738.185628.
7
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J Neuroophthalmol. 2014 Mar;34(1):64-6. doi: 10.1097/WNO.0000000000000091.
8
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.
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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。
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