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Cervical and intracranial arterial anomalies in 70 patients with PHACE syndrome
C P Hess1, H J Fullerton, D W Metry
1Department of Radiology, University of California, San Francisco, 94143-0628, USA. christopher.hess@ucsf.edu
Insights
PHACE syndrome commonly involves brain and neck arteries, with dysgenesis and abnormal course being most frequent. These arterial issues and brain abnormalities are typically on the same side as the hemangioma.
Area of Science:
- Vascular malformations
- Pediatric neurology
- Radiology
Background:
- Cerebral and cervical arterial abnormalities are common in PHACE syndrome.
- Previous studies lacked systematic assessment of arterial lesion types and locations in large PHACE syndrome cohorts.
Purpose of the Study:
- Characterize the phenotypic spectrum of arteriopathy in PHACE syndrome.
- Assess the frequency of involvement of different arteries.
- Evaluate spatial relationships between arteriopathy, brain lesions, and hemangiomas.
Main Methods:
- Reviewed intracranial MRA/CTA and brain MRI in 70 children with PHACE syndrome.
- Classified arteriopathy into five categories: dysgenesis, narrowing, nonvisualization, primitive connections, and anomalous course/origin.
- Used logistic regression to analyze associations between arteriopathy, hemangiomas, and brain abnormalities.
Main Results:
- All patients had arterial abnormalities; 57% had multiple types.
- Dysgenesis (56%) and anomalous course/origin (47%) were most common.
- Arteriopathy and brain abnormalities were ipsilateral to hemangiomas in most cases.
- Posterior fossa anomalies correlated with internal carotid artery or persistent embryonic carotid-basilar connections.
Conclusions:
- PHACE syndrome arteriopathy frequently affects the internal carotid artery and its embryonic branches.
- Dysgenesis and abnormal arterial course are the most common findings.
- Arteriopathy and associated brain abnormalities are typically ipsilateral to the cutaneous hemangioma.
Background And Purpose:
Cerebral and cervical arterial abnormalities are the most common non-cutaneous anomaly in PHACE syndrome, but the location and type of arterial lesions that occur have not been systematically assessed in a large cohort. Our aim was to characterize the phenotypic spectrum of arteriopathy, assess the frequency with which different arteries are involved, and evaluate spatial relationships between arteriopathy, brain structural lesions, and hemangiomas in PHACE syndrome.
Materials And Methods:
Intracranial MRA and/or CTA images from 70 children and accompanying brain MR images in 59 patients with arteriopathy and PHACE syndrome were reviewed to identify the type and location of arterial lesions and brain abnormalities. Five categories of arteriopathy were identified and used for classification: dysgenesis, narrowing, nonvisualization, primitive embryonic carotid-vertebrobasilar connections, and anomalous arterial course or origin. Univariate logistic regression analyses were performed to test for associations between arteriopathy location, hemangiomas, and brain abnormalities.
Results:
By study design, all patients had arterial abnormalities, and 57% had >1 form of arteriopathy. Dysgenesis was the most common abnormality (56%), followed by anomalous course and/or origin (47%), narrowing (39%), and nonvisualization (20%). Primitive embryonic carotid-vertebrobasilar connections were present in 20% of children. Hemangiomas were ipsilateral to arteriopathy in all but 1 case. The frontotemporal and/or mandibular facial segments were involved in 97% of cases, but no other specific associations between arteriopathy location and hemangioma sites were detected. All cases with posterior fossa anomalies had either ICA anomalies or persistent embryonic carotid-basilar connections.
Conclusions:
The arteriopathy of PHACE syndrome commonly involves the ICA and its embryonic branches, ipsilateral to the cutaneous hemangioma, with dysgenesis and abnormal arterial course the most commonly noted abnormalities. Brain abnormalities are also typically ipsilateral.
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