Adult Presentation of PHACES Syndrome

Overview

Journal Interv Neuroradiol

Publisher Sage Publications

Specialty Neurology

Date 2011 Jun 24

PMID 21696650

Citations 8

Authors

S S Arora

B M Plato

R J Sattenberg

R K Downs

K S Remmel

J O Heidenreich

Affiliations

Soon will be listed here.

Abstract

A significant percentage of children with hemangiomas may have PHACES syndrome which refers to the association of posterior fossa malformations, facial hemangiomas, arterial cerebrovascular abnormalities, cardiovascular anomalies, eye abnormalities and ventral defects like sternal clefting or supraumbilical raphe. A variety of factors have led to under diagnosis of PHACES syndrome in the past including lack of awareness and limited imaging modalities. Also, patients with PHACES syndrome with arterial cerebrovascular abnormalities can present with acute ischemic stroke. However, these patients usually present before one year of age. We describe a 29-year-old woman with no history of cerebrovascular disease who initially presented with symptoms of a stroke and was subsequently diagnosed to have PHACES syndrome exhibiting an array of multiple unusual imaging findings. We also discuss the current literature and recommendations about PHACES syndrome.

Citing Articles

Management of adults with coarctation of aorta.

Agasthi P, Pujari S, Tseng A, Graziano J, Marcotte F, Majdalany D World J Cardiol. 2020; 12(5):167-191.

PMID: 32547712 PMC: 7284000. DOI: 10.4330/wjc.v12.i5.167.

Transient ischemic attack in elderly patient with PHACE syndrome.

Shimizu Y, Tsuchiya K, Fujisawa H Surg Neurol Int. 2019; 10:188.

PMID: 31637089 PMC: 6778325. DOI: 10.25259/SNI_187_2019.

Localized Marked Elongation of the Distal Internal Carotid Artery with or without PHACE Syndrome: Segmental Dolichoectasia of the Distal Internal Carotid Artery.

Jia Z, Zhao L, Lee D AJNR Am J Neuroradiol. 2018; 39(5):817-823.

PMID: 29545249 PMC: 7410667. DOI: 10.3174/ajnr.A5573.

Concomitant carotid aplasia and basilar artery occlusion in a child with PHACES syndrome.

Delgado N, Carroll J, Meyers P BMJ Case Rep. 2017; 2017.

PMID: 28814594 PMC: 5624029. DOI: 10.1136/bcr-2017-221055.

Asymmetric Meckel Cave Enlargement: A Potential Marker of PHACES Syndrome.

Wright J, Wycoco V AJNR Am J Neuroradiol. 2017; 38(6):1223-1227.

PMID: 28408631 PMC: 7960085. DOI: 10.3174/ajnr.A5140.

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