Papilledema in the setting of x-linked hypophosphatemic rickets with craniosynostosis
Lora R Dagi Glass1, Teodoro Forcht Dagi, Linda R Dagi
1Memorial Sloan-Kettering Cancer Center, New York, N.Y.
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.
Related Concept Videos
Inborn Errors of Metabolism
Bone Disorders
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
Notch Signaling Pathway
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...
Nephrotic Syndrome I : Introduction


