Utilisation of advanced MRI techniques to understand neurovascular complications of PHACE syndrome: a case of arterial stenosis and dissection

• Published in: BMJ case reports Vol. 13; no. 9; p. e235992
• Main Authors: Eisenmenger, Laura B, Rivera-Rivera, Leonardo A, Johnson, Kevin M, Drolet, Beth A
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group Ltd 14.09.2020; BMJ Publishing Group LTD; BMJ Publishing Group
• Series: Case report
• Subjects: Anti-Inflammatory Agents, Non-Steroidal - therapeutic use; Aortic Coarctation - diagnostic imaging; Aortic Coarctation - drug therapy; Aortic Coarctation - physiopathology; Aspirin; Aspirin - therapeutic use; Carotid arteries; Case reports; Child; congenital disorders; Dissection; Eye Abnormalities - diagnostic imaging; Eye Abnormalities - drug therapy; Eye Abnormalities - physiopathology; Female; Findings That Shed New Light on the Possible Pathogenesis of a Disease or an Adverse Effect; Headache - etiology; Headaches; Humans; Ischemia; Magnetic Resonance Angiography - methods; Medical imaging; Neurocutaneous Syndromes - diagnostic imaging; Neurocutaneous Syndromes - drug therapy; Neurocutaneous Syndromes - physiopathology; Neuroimaging; radiology; Stroke; Veins & arteries; Velocity; radiology; congenital disorders; neuroimaging
• ISSN: 1757-790X; 1757-790X
• DOI: 10.1136/bcr-2020-235992

PHACE syndrome is a rare disorder with posterior fossa brain malformations, segmental infantile haemangiomas, arterial anomalies, cardiac defects and eye anomalies. Cerebral and cervical arterial abnormalities occur commonly in these patients, predisposing subjects with PHACE syndrome to neurovascular complications including migraine-like headaches, moyamoya vasculopathy, arterial dissection and arterial ischaemia stroke. We leveraged institutional MRI protocols developed for adult neurovascular disease to better elucidate the pathogenesis of the arterial alternations observed in PHACE. Using high-resolution vessel wall and 4D flow MRI, we demonstrated enhancement, focal dissection and altered blood flow in a 7-year-old girl with PHACE syndrome. This is the first-time vessel wall imaging has been used to detail the known arterial changes in PHACE, and these findings may indicate that progressive vascular narrowing and vessel wall changes/inflammation are a factor in chronic headaches and other arterial complications seen in subjects with PHACE syndrome.