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被先天性青光眼和牛眼掩盖的儿童眶颞部神经纤维瘤病

Childhood orbitotemporal neurofibromatosis masked by congenital glaucoma and buphthalmos.

作者信息

Ziakas Nikolas G, Kanonidou Evgenia D, Boboridis Kostas G

机构信息

1st Department of Ophthalmology, Aristotle University of Thessaloniki, AHEPA University Hospital, Thessaloniki, Greece.

出版信息

J Pediatr Ophthalmol Strabismus. 2011 Jul 19;48 Online:e49-51. doi: 10.3928/01913913-20110712-06.

Abstract

In newborns with unilateral buphthalmos and presumed congenital glaucoma, the differential diagnosis should include the rare condition of orbitotemporal neurofibromatosis. The authors present the diagnostic challenge of an unusual case of neurofibromatosis type 1 with unilateral congenital glaucoma, buphthalmos, and sphenoid-orbital dysplasia. The accompanying type of osseous orbital dysplasia has rarely been described in the literature, complicating the diagnostic and management process.

摘要

在患有单侧眼球增大及疑似先天性青光眼的新生儿中,鉴别诊断应包括罕见的眶颞部神经纤维瘤病。作者介绍了一例1型神经纤维瘤病合并单侧先天性青光眼、眼球增大及蝶骨-眶发育异常的不寻常病例所带来的诊断挑战。文献中很少描述伴有这种类型的眼眶骨发育异常,这使得诊断和治疗过程变得复杂。

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