Papilledema from craniosynostosis in pycnodysostosis.
نویسندگان
چکیده
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 Francisco, San Francisco, California
منابع مشابه
Craniosynostosis 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 ...
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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 کاملConcurrent repair of orbital shallowness with craniosynostosis surgery: two late cases of simultaneous orbital decompression.
Early closure of cranial sutures results in various types of cranial vault deformities, named craniosynostosis. Although mostly associated with syndromic cases, bony orbit deformities such as exorbitism can be seen with various types of craniosynostosis. This condition can be associated with papilledema and besides its effect on the patient's appearance can cause subluxation of the globe, lagop...
متن کاملObesity in pycnodysostosis due to UPD1: possible effect of an imprinted gene on chromosome 1.
Pycnodysostosis is a rare autosomal recessive bone disorder that results from loss-of-function mutations in the CTSK gene. This gene is located at chromosome band 1q21 and codes for a lysosomal cysteine protease that functions in bone resorption and remodeling [Gelb et al., 1996]. In the last 40 years, an atypical mode of inheritance (uniparental disomy—UPD) has been recognized as a mechanism r...
متن کاملMonitoring visual function in children with syndromic craniosynostosis: a comparison of 3 methods.
OBJECTIVE To compare visual acuity, optic disc appearance, and transient pattern reversal visual evoked potentials as markers of possible visual dysfunction in children with syndromic craniosynostosis. METHODS Serial visual acuity, optic disc appearance, and pattern reversal visual evoked potential data were recorded in 8 patients with syndromic craniosynostosis before and after cranial vault...
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عنوان ژورنال:
- Pediatric neurology
دوره 52 1 شماره
صفحات -
تاریخ انتشار 2015