PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients.
Bracken, Jennifer Robinson, Ian Snow, Aisling Watson, Rosemarie Irvine, Alan D Rea, David Phelan, Ethna
Bracken, Jennifer
Robinson, Ian
Snow, Aisling
Watson, Rosemarie
Irvine, Alan D
Rea, David
Phelan, Ethna
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Advisors
Editors
Other Contributors
Departments
Department of Radiology, Our Lady's Children's Hospital, Crumlin, Dublin 12,, Ireland. jenny_bracken@hotmail.com
Date
2012-02-01T10:24:48Z
Date Submitted
Keywords
Other Subjects
Subject Mesh
Abnormalities, Multiple/*diagnosis
Aortic Coarctation/*diagnosis/pathology
*Cranial Fossa, Posterior/abnormalities
Eye Abnormalities/*diagnosis/pathology
Female
Humans
Infant, Newborn
*Magnetic Resonance Imaging
Male
Neurocutaneous Syndromes/*complications/diagnosis/pathology
Retrospective Studies
Syndrome
Aortic Coarctation/*diagnosis/pathology
*Cranial Fossa, Posterior/abnormalities
Eye Abnormalities/*diagnosis/pathology
Female
Humans
Infant, Newborn
*Magnetic Resonance Imaging
Male
Neurocutaneous Syndromes/*complications/diagnosis/pathology
Retrospective Studies
Syndrome
Planned Date
Start Date
Collaborators
Principal Investigators
Alternative Titles
Publisher
Abstract
BACKGROUND: PHACE (posterior fossa defects, haemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities) syndrome describes a constellation of abnormalities that can occur in association with segmental craniofacial infantile haemangioma. OBJECTIVE: To report the spectrum of clinical and imaging abnormalities seen in a cohort of children. MATERIALS AND METHODS: A retrospective review of the clinical and imaging records of all patients diagnosed with PHACE syndrome between 1998 and 2009 was performed. Information sought included patient demographics, craniofacial segments involved, imaging findings and other extracutaneous abnormalities. RESULTS: Twelve patients were diagnosed with PHACE syndrome over 11 years. All patients had a segmental craniofacial haemangioma. Involved facial segments, in order of frequency, were frontotemporal (12), maxillary (8), mandibular (5) and frontonasal (1). The most common extracutaneous abnormalities were neurovascular anomalies (10), with many patients having multiple anomalies. The spectrum of arterial anomalies ranged from hypoplasia (9) to ectasia (3), anomalous origin/course (2) and persistent fetal anastomosis (2). Other anomalies found included cardiac anomalies (3), coarctation of the aorta (2), posterior fossa malformations (1) and sternal region anomalies (1). CONCLUSION: Intracranial anomalies are the most common extracutaneous feature of PHACE syndrome. The contribution of the radiologist in the recognition of such anomalies is important for the diagnosis of PHACE syndrome.
Language
eng
ISSN
1432-1998 (Electronic)
0301-0449 (Linking)
0301-0449 (Linking)
eISSN
ISBN
DOI
10.1007/s00247-011-2142-z
PMID
21674285