Extracranial and Intracranial Vasculopathy With "Moyamoya Phenomenon" in Association With Alagille Syndrome.
Item Type:Journal Article
Citation:Delaney, S., O'Connor, G., Reardon, W., Murphy, S.J.X., Tierney, S., Ryan, B.M., Delaney, H., Doherty, C.P., Guiney, M., Brennan, P., Tobin, W.O. & McCabe, D.J.H., Extracranial and Intracranial Vasculopathy With "Moyamoya Phenomenon" in Association With Alagille Syndrome., Frontiers in neurology, 9, 2019, 1194
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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.
Author: Ryan, Barbara; Doherty, Colin; Delaney, Siobhan; O'Connor, Ged; Reardon, William; Murphy, Stephen J. X.; Tierney, Sean; Tobin, W. Oliver; McCabe, Dominick J.H.
Type of material:Journal Article
Series/Report no:Frontiers in neurology;
Availability:Full text available
Keywords:Alagille syndrome (AGS), Internal carotid artery (ICA), Moyamoya phenomenon, JAG1 gene, Transient ischaemic attack