Cervical and intracranial arterial anomalies in 70 patients with PHACE syndrome

Christopher P. Hess, H. J. Fullerton, D. W. Metry, B. A. Drolet, D. H. Siegel, K. I. Auguste, N. Gupta, Anita Haggstrom, C. F. Dowd, I. J. Frieden, A. J. Barkovich

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Abstract

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.

Original languageEnglish
Pages (from-to)1980-1986
Number of pages7
JournalAmerican Journal of Neuroradiology
Volume31
Issue number10
DOIs
StatePublished - Nov 2010

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Hemangioma
Brain
Arteries
Logistic Models
Regression Analysis
Skin

ASJC Scopus subject areas

  • Clinical Neurology
  • Radiology Nuclear Medicine and imaging

Cite this

Hess, C. P., Fullerton, H. J., Metry, D. W., Drolet, B. A., Siegel, D. H., Auguste, K. I., ... Barkovich, A. J. (2010). Cervical and intracranial arterial anomalies in 70 patients with PHACE syndrome. American Journal of Neuroradiology, 31(10), 1980-1986. https://doi.org/10.3174/ajnr.A2206

Cervical and intracranial arterial anomalies in 70 patients with PHACE syndrome. / Hess, Christopher P.; Fullerton, H. J.; Metry, D. W.; Drolet, B. A.; Siegel, D. H.; Auguste, K. I.; Gupta, N.; Haggstrom, Anita; Dowd, C. F.; Frieden, I. J.; Barkovich, A. J.

In: American Journal of Neuroradiology, Vol. 31, No. 10, 11.2010, p. 1980-1986.

Research output: Contribution to journalArticle

Hess, CP, Fullerton, HJ, Metry, DW, Drolet, BA, Siegel, DH, Auguste, KI, Gupta, N, Haggstrom, A, Dowd, CF, Frieden, IJ & Barkovich, AJ 2010, 'Cervical and intracranial arterial anomalies in 70 patients with PHACE syndrome', American Journal of Neuroradiology, vol. 31, no. 10, pp. 1980-1986. https://doi.org/10.3174/ajnr.A2206
Hess CP, Fullerton HJ, Metry DW, Drolet BA, Siegel DH, Auguste KI et al. Cervical and intracranial arterial anomalies in 70 patients with PHACE syndrome. American Journal of Neuroradiology. 2010 Nov;31(10):1980-1986. https://doi.org/10.3174/ajnr.A2206
Hess, Christopher P. ; Fullerton, H. J. ; Metry, D. W. ; Drolet, B. A. ; Siegel, D. H. ; Auguste, K. I. ; Gupta, N. ; Haggstrom, Anita ; Dowd, C. F. ; Frieden, I. J. ; Barkovich, A. J. / Cervical and intracranial arterial anomalies in 70 patients with PHACE syndrome. In: American Journal of Neuroradiology. 2010 ; Vol. 31, No. 10. pp. 1980-1986.
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abstract = "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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AU - Siegel, D. H.

AU - Auguste, K. I.

AU - Gupta, N.

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