Faculty Collaboration Database

Stroke in children with posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities (PHACE) syndrome: a systematic review of the literature. Stroke 2012 Jun;43(6):1672-4

Date

03/24/2012

Pubmed ID

22442177

DOI

10.1161/STROKEAHA.112.650952

Scopus ID

2-s2.0-84863405033 (requires institutional sign-in at Scopus site)   97 Citations

Abstract

BACKGROUND AND PURPOSE: PHACE is an acronym for posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Several case reports of arterial ischemic stroke (AIS) in individuals with PHACE have been published, but risk factors for AIS in PHACE have not been clearly defined. The objective of this article is to review all cases of stroke in PHACE in children and describe clinical characteristics that may be associated with an increased risk of AIS.

METHODS: A literature and registry search was conducted to identify patients with PHACE who had experienced AIS. Data were analyzed to determine age of onset, presenting signs and symptoms, and clinical features among this cohort compared with PHACE without AIS.

RESULTS: Twenty-two individuals with PHACE and AIS were identified. Imaging of the arteries of the head and neck was reported in 20 of 22. Narrowing or nonvisualization of at least 1 great cerebral vessel was present in 19 of 20 and of those, 15 had ≥ 2 vessels involved. Aortic arch anomalies were reported in 13 of 22 individuals.

CONCLUSIONS: Aplasia, hypoplasia, or occlusion of a major cerebral artery appears to be a significant risk factor for AIS in children with PHACE, especially when >1 vessel is involved or if there is coarctation of the aorta.

Author List

Siegel DH, Tefft KA, Kelly T, Johnson C, Metry D, Burrows P, Pope E, Cordisco M, Holland KE, Maheshwari M, Keith P, Garzon M, Hess C, Frieden IJ, Fullerton HJ, Drolet BA

Authors

Kristen E. Holland MD Associate Professor in the Dermatology department at Medical College of Wisconsin
Teresa G. Kelly MD Adjunct Associate Professor in the Radiology department at Medical College of Wisconsin
Mohit Maheshwari MD Professor in the Radiology department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Abnormalities, Multiple
Angiography
Aortic Coarctation
Brain
Cohort Studies
Eye Abnormalities
Female
Heart Defects, Congenital
Hemangioma
Humans
Infant
Male
Risk Factors
Stroke
Syndrome