X连锁低磷性佝偻病与矢状缝早闭：3例需行颅骨扩张手术的患者：病例系列及文献综述
X-linked hypophosphatemic rickets and sagittal craniosynostosis: three patients requiring operative cranial expansion: case series and literature review.
作者信息
Jaszczuk Phillip, Rogers Gary F, Guzman Raphael, Proctor Mark R
机构信息
Department of Neurosurgery, Division of Pediatric Neurosurgery, University Childrens Hospital Basel, Basel, Switzerland.
Division of Plastic and Reconstructive Surgery, Children's National Medical Center, Washington, DC, USA.
出版信息
Childs Nerv Syst. 2016 May;32(5):887-91. doi: 10.1007/s00381-015-2934-9. Epub 2015 Oct 28.
PURPOSE
A defect in a phosphate-regulating gene leads to the most common form of rickets: X-linked hypophosphatemic rickets (XLH) or vitamin D-resistant rickets (VDDR). XLH has been associated with craniosynostosis, the sagittal suture being the most commonly involved.
METHODS
We present three patients with rickets and symptomatic sagittal suture craniosynostosis all of whom presented late (>2 years of age). Two had a severe phenotype and papilledema, while the third presented with an osseous bulging near the anterior fontanel and experienced chronic headaches.
RESULTS
All underwent successful cranial vault expansion.
CONCLUSIONS
Rachitic patients with scaphocephaly should be screened for craniosynostosis.
目的
一种磷酸盐调节基因缺陷会导致最常见的佝偻病形式：X连锁低磷血症性佝偻病（XLH）或维生素D抵抗性佝偻病（VDDR）。XLH与颅缝早闭有关，矢状缝是最常受累的部位。
方法
我们报告了3例患有佝偻病且有症状性矢状缝颅缝早闭的患者，他们均为晚发型（年龄>2岁）。其中2例有严重的临床表现和视乳头水肿，而第3例在前囟门附近有骨质膨出并伴有慢性头痛。
结果
所有患者均成功进行了颅骨穹窿扩张术。
结论
应筛查患有舟状头畸形的佝偻病患者是否存在颅缝早闭。
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