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牵牛花盘状异常、脉络膜缺损和颈内动脉先天性狭窄畸形(烟雾病)。

Morning glory disk anomaly, choroidal coloboma, and congenital constrictive malformations of the internal carotid arteries (moyamoya disease).

作者信息

Krishnan C, Roy A, Traboulsi E

机构信息

Department of Pediatric Ophthalmology, Cleveland Clinic, The Center for Genetic Eye Diseases, The Cole Eye Institute, Cleveland, Ohio 44124, USA.

出版信息

Ophthalmic Genet. 2000 Mar;21(1):21-4.

Abstract

PURPOSE

To report a patient with congenital constrictive malformations of the internal carotid arteries and a morning glory disc anomaly (MGDA).

METHODS

Descriptive case report.

RESULTS

A 14-year-old girl underwent serial ophthalmologic examinations since the age of seven years because of blurred vision and floaters. A right optic disk anomaly was present that was most compatible with an MGDA accompanied by an inferior choroidal coloboma. Because of the association of such disc malformations with moyamoya disease, the patient underwent cerebral MRI and MRA that showed narrowing of both internal carotid arteries, a finding consistent with early-stage moyamoya disease.

CONCLUSION

This case illustrates the importance of recognizing the association of MGDA with moyamoya disease, a treatable condition that may have devastating neurological consequences.

摘要

目的

报告一例患有先天性颈内动脉狭窄畸形及牵牛花综合征视盘异常(MGDA)的患者。

方法

描述性病例报告。

结果

一名14岁女孩自7岁起因视力模糊和飞蚊症接受了一系列眼科检查。存在右侧视盘异常,最符合伴有下方脉络膜缺损的MGDA。由于此类视盘畸形与烟雾病相关,该患者接受了脑部MRI和MRA检查,结果显示双侧颈内动脉狭窄,这一发现与早期烟雾病一致。

结论

本病例说明了认识MGDA与烟雾病之间关联的重要性,烟雾病是一种可治疗的疾病,若不治疗可能会导致严重的神经后果。

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