PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients.

Hdl Handle:
http://hdl.handle.net/10147/207430
Title:
PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients.
Authors:
Bracken, Jennifer; Robinson, Ian; Snow, Aisling; Watson, Rosemarie; Irvine, Alan D; Rea, David; Phelan, Ethna
Affiliation:
Department of Radiology, Our Lady's Children's Hospital, Crumlin, Dublin 12,, Ireland. jenny_bracken@hotmail.com
Citation:
Pediatr Radiol. 2011 Sep;41(9):1129-38. Epub 2011 Jun 15.
Journal:
Pediatric radiology
Issue Date:
1-Feb-2012
URI:
http://hdl.handle.net/10147/207430
DOI:
10.1007/s00247-011-2142-z
PubMed ID:
21674285
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
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
ISSN:
1432-1998 (Electronic); 0301-0449 (Linking)

Full metadata record

DC FieldValue Language
dc.contributor.authorBracken, Jenniferen_GB
dc.contributor.authorRobinson, Ianen_GB
dc.contributor.authorSnow, Aislingen_GB
dc.contributor.authorWatson, Rosemarieen_GB
dc.contributor.authorIrvine, Alan Den_GB
dc.contributor.authorRea, Daviden_GB
dc.contributor.authorPhelan, Ethnaen_GB
dc.date.accessioned2012-02-01T10:24:48Z-
dc.date.available2012-02-01T10:24:48Z-
dc.date.issued2012-02-01T10:24:48Z-
dc.identifier.citationPediatr Radiol. 2011 Sep;41(9):1129-38. Epub 2011 Jun 15.en_GB
dc.identifier.issn1432-1998 (Electronic)en_GB
dc.identifier.issn0301-0449 (Linking)en_GB
dc.identifier.pmid21674285en_GB
dc.identifier.doi10.1007/s00247-011-2142-zen_GB
dc.identifier.urihttp://hdl.handle.net/10147/207430-
dc.description.abstractBACKGROUND: 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.en_GB
dc.language.isoengen_GB
dc.subject.meshAbnormalities, Multiple/*diagnosisen_GB
dc.subject.meshAortic Coarctation/*diagnosis/pathologyen_GB
dc.subject.mesh*Cranial Fossa, Posterior/abnormalitiesen_GB
dc.subject.meshEye Abnormalities/*diagnosis/pathologyen_GB
dc.subject.meshFemaleen_GB
dc.subject.meshHumansen_GB
dc.subject.meshInfant, Newbornen_GB
dc.subject.mesh*Magnetic Resonance Imagingen_GB
dc.subject.meshMaleen_GB
dc.subject.meshNeurocutaneous Syndromes/*complications/diagnosis/pathologyen_GB
dc.subject.meshRetrospective Studiesen_GB
dc.subject.meshSyndromeen_GB
dc.titlePHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients.en_GB
dc.contributor.departmentDepartment of Radiology, Our Lady's Children's Hospital, Crumlin, Dublin 12,, Ireland. jenny_bracken@hotmail.comen_GB
dc.identifier.journalPediatric radiologyen_GB
dc.description.provinceLeinster-

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