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一名患有1型神经纤维瘤病的阿曼男孩首次出现单侧青光眼,最初表现为眼球突出伴葡萄膜外翻。

First unilateral glaucoma in an Omani boy with neurofibromatosis type 1 initially presented as proptosis with ectropion uvea.

作者信息

Al-Habsi Asaad, Al-Farsi Nouf

机构信息

Oman Medical Specialty Board (OMSB), Oman.

Department of Ophthalmology, Sultan Qaboos University Hospital (SQUH), Seeb, Oman.

出版信息

Oman J Ophthalmol. 2023 Feb 21;16(1):106-109. doi: 10.4103/ojo.ojo_34_22. eCollection 2023 Jan-Apr.

Abstract

A 4½-year-old boy presented to the ophthalmology clinic with intermittent left eye (LE) redness, protrusion, and reduced LE vision. He was noticed to have multiple skin hyperpigmented lesions increasing in size and number since birth. Clinically diagnosed as neurofibromatosis (NF)-type I associated with LE glaucoma, axial myopia, and amblyopia. He was started on topical timolol eye drops, then switched his timolol to latanoprost due to parasomnia (sleep disturbances and sleepwalking), and his symptoms improved significantly within 6 weeks with controlled intraocular pressure. NF-1 is a congenital multisystemic disease which needs special attention and continuous monitoring. Unilateral glaucoma is not a common association but can be the presenting ophthalmic manifestation. Multidisciplinary management is crucial for these patients.

摘要

一名4岁半男孩因左眼间歇性发红、突出及视力下降就诊于眼科门诊。自出生以来,他被发现有多处皮肤色素沉着病变,其大小和数量不断增加。临床诊断为1型神经纤维瘤病(NF),伴有左眼青光眼、轴性近视和弱视。开始使用噻吗洛尔滴眼液局部治疗,后因出现异态睡眠(睡眠障碍和梦游)将噻吗洛尔换成拉坦前列素,6周内眼压得到控制,症状明显改善。NF-1是一种先天性多系统疾病,需要特别关注和持续监测。单侧青光眼并非常见的关联表现,但可能是眼部首发表现。多学科管理对这些患者至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c0b0/10062105/b1531600301b/OJO-16-106-g001.jpg

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