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本文引用的文献

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Hypophosphatemic rickets.低磷性佝偻病
Indian J Endocrinol Metab. 2012 Mar;16(2):177-82. doi: 10.4103/2230-8210.93733.
2
Papilledema in the setting of x-linked hypophosphatemic rickets with craniosynostosis.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。
Case Rep Ophthalmol. 2011 Sep;2(3):376-81. doi: 10.1159/000334941. Epub 2011 Dec 13.
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A clinician's guide to X-linked hypophosphatemia.X 连锁低磷血症的临床医师指南。
J Bone Miner Res. 2011 Jul;26(7):1381-8. doi: 10.1002/jbmr.340. Epub 2011 May 2.
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Effect of intracranial pressure on the diameter of the optic nerve sheath.颅内压对视神经鞘直径的影响。
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What's new in hypophosphataemic rickets?低磷血症性佝偻病有哪些新进展?
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Sagittal synostosis in X-linked hypophosphatemic rickets and related diseases.X连锁低磷性佝偻病及相关疾病中的矢状缝早闭
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Posterior cranial fossa volume in patients with rickets: insights into the increased occurrence of Chiari I malformation in metabolic bone disease.佝偻病患者的后颅窝容积:对代谢性骨病中 Chiari I 畸形发生率增加的见解。
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CRANIOSYNOSTOSIS IN THE RACHITIC SPECTRUM.佝偻病谱系中的颅缝早闭
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Magnetic resonance imaging in pseudotumor cerebri.假性脑瘤的磁共振成像
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Optic nerve head swelling in the Hadju-Cheney syndrome.哈朱-切尼综合征中的视神经乳头肿胀。
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与X连锁低磷性佝偻病相关的视神经蛛网膜下腔增宽

Patulous Subarachnoid Space of the Optic Nerve Associated with X-Linked Hypophosphatemic Rickets.

作者信息

Galvez-Ruiz Alberto, Chaudhry Imtiaz

机构信息

Ophthalmology Service, Hospital del MarBarcelonaSpain; King Khaled Eye Specialist HospitalRiyadhSaudi Arabia.

King Khaled Eye Specialist Hospital Riyadh Saudi Arabia.

出版信息

Neuroophthalmology. 2013 May 31;37(3):129-132. doi: 10.3109/01658107.2013.792355. eCollection 2013.

DOI:10.3109/01658107.2013.792355
PMID:28163769
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5289585/
Abstract

Although the deficiency forms are the most common manifestations of rickets, there are other forms of rickets that are resistant to vitamin D. Of these, the most common is X-linked hypophosphatemic rickets. Rickets represents a group of multiple cranial bone disorders-craniosynostosis and the presence of Chari I malformation being the most notable-that explain the increase in intracranial pressure. We present a 4-year-old patient with an unusual association of X-linked hypophosphataemic rickets, bilateral proptosis, and prominent bilateral widening of the optic nerve sheaths. Although the association between intracranial hypertension and rickets is known, to the best of our knowledge, such a prominent distention of the subarachnoid space of the optic nerve without papilloedema has not been previously described.

摘要

尽管缺乏型是佝偻病最常见的表现形式,但还有其他类型的佝偻病对维生素D具有抵抗性。其中,最常见的是X连锁低磷血症性佝偻病。佝偻病代表一组多种颅骨疾病——颅骨缝早闭和Chiari I畸形的存在最为显著——这些疾病解释了颅内压升高的原因。我们报告一名4岁患者,患有X连锁低磷血症性佝偻病、双侧眼球突出和双侧视神经鞘显著增宽的罕见关联。尽管颅内高压与佝偻病之间的关联是已知的,但据我们所知,此前尚未描述过这种没有视乳头水肿的视神经蛛网膜下腔如此显著的扩张。