Pediatric Neurology Unit, Department of Pediatrics, Centro Hospital S. João, Porto, Portugal.
Pediatr Neurol. 2012 Aug;47(2):125-8. doi: 10.1016/j.pediatrneurol.2012.04.014.
We describe a girl with Alagille syndrome and a moyamoya angiographic pattern on magnetic resonance angiography. She was referred for genetic consultation because of posterior embryotoxon and peripheral pulmonary stenosis. Her facial appearance was typical, but she had no cholestasis or vertebral involvement. A heterozygous duplication of one nucleotide (a c.715dupA mutation) not previously described was identified in exon 5 of the JAG1 gene. We review similar cases in the literature and possible pathophysiologic mechanisms (e.g., the Jagged 1 and Notch signaling pathway) of this association.
我们描述了一例 Alagille 综合征伴磁共振血管造影呈现 moyamoya 模式的女孩。她因后发性胚胎性内斜视和周围性肺动脉狭窄而被转介进行遗传咨询。她的面部特征典型，但无胆汁淤积或脊柱受累。在 JAG1 基因的外显子 5 中发现了一个之前未描述的一个核苷酸（c.715dupA 突变）的杂合性重复。我们回顾了文献中的类似病例，并探讨了这种关联的可能病理生理机制（例如 Jagged 1 和 Notch 信号通路）。
