Division of Child Neurology, Department of Pediatrics, Ege University Medical School, Izmir, Turkey.
Pediatr Neurol. 2013 Feb;48(2):146-8. doi: 10.1016/j.pediatrneurol.2012.10.014.
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.
Alagille 综合征与各种眼部异常有关，包括假性视盘水肿或视盘水肿，这是由于颅内压增高所致。已经提出了几种机制来解释 Alagille 综合征中颅内高压的机制。颅缝早闭是 Alagille 综合征中颅内高压的一个不常见但重要的原因。最近在动物模型中已经证明，导致 Alagille 综合征的突变的 Jagged1 基因也可能参与颅缝形成。我们报告了一例 Alagille 综合征伴颅缝早闭的患儿，其表现为瘙痒、肝酶升高和疑似颅内压增高。
