Extracranial and intracranial vasculopathy with "moyamoya phenomenon" in association with alagille syndrome

Siobhan Delaney, Ged O'Connor, William Reardon, Stephen J.X. Murphy, Sean Tierney, Barbara M. Ryan, Holly Delaney, Colin P. Doherty, Michael Guiney, Paul Brennan, W. Oliver Tobin, Dominick J.H. McCabe

Research output: Contribution to journalArticlepeer-review


Background: Alagille syndrome (AGS) is an autosomal-dominant, multisystem disorder caused by mutations in the JAG1 gene. Case Description: A 34-year-old man was referred to our service 10 years ago with focal seizures with impaired awareness and transient slurred speech. He had a 5-year history of intermittent left monocular low-flow retinopathy. He has a family history of AGS. General examination revealed mild hypertension, aortic regurgitation, and livedo reticularis. Neurological examination was normal. Investigations: He had mild hyperlipidaemia and persistently-positive lupus anticoagulant consistent with primary anti-phospholipid syndrome. Color Doppler ultrasound revealed low velocity flow in a narrowed extracranial left internal carotid artery (ICA). MR and CT angiography revealed a diffusely narrowed extracranial and intracranial left ICA. Formal cerebral angiography confirmed severe left ICA narrowing consistent with a left ICA "vasculopathy" and moyamoya phenomenon. Transthoracic echocardiogram revealed a bicuspid aortic valve and aortic incompetence. Molecular genetic analysis identified a missense mutation (A211P) in exon 4 of the JAG1 gene, consistent with AGS. Discussion: AGS should be considered in young adults with TIAs/stroke and unexplained extracranial or intracranial vascular abnormalities, and/or moyamoya phenomenon, even in the absence of other typical phenotypic features. Gene panels should include JAG1 gene testing in similar patients.

Original languageEnglish (US)
Article number1194
JournalFrontiers in Neurology
Issue numberJAN
StatePublished - 2019


  • Alagille syndrome (AGS)
  • Internal carotid artery (ICA)
  • JAG1 gene
  • Moyamoya phenomenon
  • Transient ischaemic attack

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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