Papilledema From Craniosynostosis in Pycnodysostosis
نویسندگان
چکیده
منابع مشابه
Papilledema from craniosynostosis in pycnodysostosis.
Sung-eun E. Kyung MD, PhD , Jonathan C. Horton MD, PhD* Department of Ophthalmology, School of Medicine, University of Dankook at Cheonan, South Korea Department of Ophthalmology, University of California, San Francisco, San Francisco, California Department of Neurology, University of California, San Francisco, San Francisco, California Department of Physiology, University of California, San Fr...
متن کاملCraniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities.
Pycnodysostosis is a rare autosomal recessive skeletal dysplasia caused by the absence of active cathepsin K, which is a lysosomal cysteine protease that plays a role in degrading the organic matrix of bones, acting in bone resorption and bone remodeling. The disease is primarily characterized by osteosclerosis, bone fragility, short stature, acro-osteolysis, and delayed closure of the cranial ...
متن کاملPapilledema in the Setting of X-Linked Hypophosphatemic Rickets with Craniosynostosis
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 Childr...
متن کاملPorencephalic cyst in pycnodysostosis.
We describe a case of pycnodysostosis with porencephaly and suggest an explanation for the porencephaly by a mechanism of imbalance between brain growth and its vascular supply and a normal but unopposed cerebrospinal fluid pressure.
متن کاملCraniosynostosis
DESCRIPTION An 8-month-old baby boy presents with trigonocephaly and undergoes anterior cranial vault reconstruction for metopic craniosynostosis.
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ژورنال
عنوان ژورنال: Pediatric Neurology
سال: 2015
ISSN: 0887-8994
DOI: 10.1016/j.pediatrneurol.2014.09.021