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Papilledema in the Setting of X-Linked Hypophosphatemic Rickets with Craniosynostosis

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2011

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S. Karger AG
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Glass, Lora R. Dagi, Teodoro Forcht Dagi, and Linda R. Dagi. 2011. Papilledema in the setting of X-linked hypophosphatemic rickets with craniosynostosis. Case Reports in Ophthalmology 2(3): 376-381.

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.

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papilledema, optic atrophy, rickets, craniosynostosis

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