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首页> 外文期刊>Pediatric neurology >The association of alagille syndrome and craniosynostosis
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The association of alagille syndrome and craniosynostosis

机译：阿拉吉勒综合征与颅骨前突的关系

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摘要

Alagille syndrome is associated with various ocular abnormalities, including pseudopapilledema or optic disk edema due to increased intracranial pressure. Several mechanisms have been proposed to explain the mechanism of intracranial hypertension in Alagille syndrome. Craniosynostosis is an unusual but significant cause of increased intracranial hypertension in Alagille syndrome. It has recently been demonstrated in animal models that Jagged1 gene in which mutations are responsible for Alagille syndrome may also take part in cranial suture formation. We report a child with Alagille syndrome and craniosynostosis who presented with pruritus, elevated liver enzymes, and suspected increased intracranial pressure.
机译：Alagille综合征与各种眼部异常有关，包括由于颅内压升高而引起的假性瞳孔水肿或视盘水肿。有人提出了几种机制来解释Alagille综合征颅内高压的机制。颅前突增生是Alagille综合征颅内高压升高的不寻常但重要的原因。最近在动物模型中证实，突变导致Alagille综合征的Jagged1基因也可能参与颅骨缝线的形成。我们报告了一个患有Alagille综合征和颅突狭窄的儿童，他出现瘙痒，肝酶升高，并怀疑颅内压升高。

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