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先天性上睑下垂合并内收作为一种神经支配障碍:1例罕见病例报告。

Congenital Ptosis Associated With Adduction as a Dysinnervation Disorder: A Report of a Rare Case.

作者信息

Alnosair Ghadah, Alhashim Hassan, Alhamoud Mustafa, Alturki Hissah

机构信息

Pediatric Ophthalmology and Strabismus, Dammam Medical Complex, Dammam, SAU.

Ophthalmology, Imam Abdulrahman Bin Faisal University, Dammam, SAU.

出版信息

Cureus. 2023 Jun 14;15(6):e40422. doi: 10.7759/cureus.40422. eCollection 2023 Jun.

Abstract

The levator palpebrae superioris is the primary muscle responsible for elevation of the eyelid. This muscle is innervated by the third intracranial nerve. Any pathology affecting the muscle or the supplying nerve can lead to blepharoptosis. In this study, we share our experience of a two-year-old baby boy patient who presented with a rare congenital disorder manifested as blepharoptosis increased with adduction bilaterally with no limitation of ocular muscles action except bilateral underaction of inferior oblique muscles. To our knowledge, this unusual presentation has not been previously reported in the literature. We aim in this report to build more knowledge on such a rare clinical presentation. Based on the findings, this could be a case of congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs). CCDDs/CID is a group of conditions that includes blepharoptosis as part of their clinical presentation. This group of conditions includes Duane's retraction syndrome, congenital fibrosis of extraocular muscles, and monocular elevation defect.

摘要

提上睑肌是负责提起眼睑的主要肌肉。该肌肉由颅内第三神经支配。任何影响该肌肉或供应神经的病变都可导致上睑下垂。在本研究中,我们分享了一名两岁男婴患者的经验,该患者患有罕见的先天性疾病,表现为双侧内收时上睑下垂加重,除双侧下斜肌作用不足外,眼肌活动无受限。据我们所知,这种不寻常的表现此前在文献中尚未有报道。我们在本报告中的目的是积累更多关于这种罕见临床表现的知识。基于这些发现,这可能是一例先天性神经支配发育异常综合征(CID)/先天性颅神经支配障碍(CCDDs)。CCDDs/CID是一组疾病,其临床表现包括上睑下垂。这组疾病包括杜安眼球后退综合征、眼外肌先天性纤维化和单眼上睑提肌缺陷。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7dc6/10348428/fed65266835a/cureus-0015-00000040422-i01.jpg

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