J Pediatr Genet 2020; 09(01): 027-031
DOI: 10.1055/s-0039-1694705
Case Report
Georg Thieme Verlag KG Stuttgart · New York

PHACE Syndrome: A Rare Case

Ceylan Altintas Taslicay
1  Department of Radiology, Kocaeli University Faculty of Medicine, Kocaeli, Turkey
,
Elmire Dervisoglu
1  Department of Radiology, Kocaeli University Faculty of Medicine, Kocaeli, Turkey
,
Ercument Ciftci
1  Department of Radiology, Kocaeli University Faculty of Medicine, Kocaeli, Turkey
,
Funda Corapcioglu
2  Department of Pediatric Oncology, Kocaeli University Faculty of Medicine, Kocaeli, Turkey
,
Yonca Anik
1  Department of Radiology, Kocaeli University Faculty of Medicine, Kocaeli, Turkey
› Author Affiliations
Further Information

Publication History

05 April 2019

27 June 2019

Publication Date:
12 August 2019 (online)

Abstract

PHACE syndrome (OMIM 606519) is a rare neurocutaneous vascular disorder, characterized by posterior fossa malformations, large cervicofacial infantile hemangiomas, arterial anomalies, aortic coarctation, cardiac abnormalities, and eye abnormalities. The long-term outcome of PHACE syndrome patients is unclear; however, it seems that they are at risk for childhood stroke. The radiologist has an important role on diagnosis of PHACE syndrome and in the assessment of potential complications. Investigation of infants with segmental craniofacial hemangiomas should include cranial magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) of the cerebral and cervical arteries. Brain MRI and MRA findings of a 5-year-old female patient with PHACE syndrome are presented.