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伴有颅骨缝早闭的X连锁低磷性佝偻病患者出现视乳头水肿。

Papilledema in the setting of x-linked hypophosphatemic rickets with craniosynostosis.

作者信息

Glass Lora R Dagi, Dagi Teodoro Forcht, Dagi Linda R

机构信息

Memorial Sloan-Kettering Cancer Center, New York, N.Y.

出版信息

Case Rep Ophthalmol. 2011 Sep;2(3):376-81. doi: 10.1159/000334941. Epub 2011 Dec 13.

DOI:10.1159/000334941
PMID:22220162
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3250662/
Abstract

PURPOSE

INTRODUCTION TO THE OPHTHALMIC LITERATURE OF AN UNUSUAL CAUSE OF PAPILLEDEMA AND SUBSEQUENT OPTIC ATROPHY: X-linked hypophosphatemic rickets (XLH).

METHODS

Case report of a 3-year-old female presenting with papilledema resulting from craniosynostosis secondary to XLH.

RESULTS

Early intervention with craniofacial surgery prevented the development of optic atrophy.

CONCLUSION

Children with XLH should be screened for ophthalmic evidence of elevated intracranial pressure to aid early intervention and prevention of permanent loss of vision.

摘要

目的

介绍一种导致视乳头水肿及后续视神经萎缩的罕见病因——X连锁低磷性佝偻病（XLH）的眼科文献。

方法

报告一名3岁女性因XLH继发颅缝早闭导致视乳头水肿的病例。

结果

早期进行颅面手术干预可预防视神经萎缩的发生。

结论

应筛查XLH患儿是否有颅内压升高的眼科证据，以助于早期干预并预防永久性视力丧失。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd7a/3250662/f44c333694b5/cop0002-0376-f03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd7a/3250662/df5fac494c5a/cop0002-0376-f01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd7a/3250662/25e681ef059a/cop0002-0376-f02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd7a/3250662/f44c333694b5/cop0002-0376-f03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd7a/3250662/df5fac494c5a/cop0002-0376-f01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd7a/3250662/25e681ef059a/cop0002-0376-f02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd7a/3250662/f44c333694b5/cop0002-0376-f03.jpg

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