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一名眼皮肤白化病患者出现单侧眼眶丛状神经纤维瘤的罕见组合。

An unusual combination of unilateral orbital plexiform neurofibroma in a patient with oculocutaneous albinism.

作者信息

Saravanan J, Rajendraprasad A, Priyadharshni S

机构信息

Department of Ophthalmology, Coimbatore Medical College, Coimbatore, Tamil Nadu, India.

出版信息

Indian J Ophthalmol. 2014 Jun;62(6):735-7. doi: 10.4103/0301-4738.136259.

Abstract

A 70-year-old female patient presented with proptosis of right eye for the past 15 days and defective vision in both eyes since birth. She was found to have eccentric painful proptosis of right eye along with features of oculocutaneous albinism. Eccentric proptosis was due to an orbital mass which proved to be a plexiform neurofibroma by histopathological examination. The case is presented for its rarity, as an isolated orbital plexiform neurofibroma without the systemic features of neurofibromatosis is rare and its coincidental presentation with oculocutaneous albinism is yet rare and has not been reported so far.

摘要

一名70岁女性患者,右眼突出15天,自出生起双眼视力不佳。检查发现患者右眼有偏心性疼痛性眼球突出,并伴有眼皮肤白化病特征。偏心性眼球突出是由眼眶肿块引起的,经组织病理学检查证实为丛状神经纤维瘤。该病例因其罕见性而被报道,孤立性眼眶丛状神经纤维瘤而无神经纤维瘤病的全身特征较为罕见,其与眼皮肤白化病同时出现则更为罕见,迄今为止尚未见报道。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f248/4131334/0de62196ab1b/IJO-62-735-g001.jpg

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