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Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome. Am J Med Genet A 2018 01;176(1):48-55 PMID: 29171184 PMCID: PMC5844264

Pubmed ID





PHACE syndrome is the association of segmental facial hemangiomas with congenital arterial, brain, cardiac, and ocular anomalies. Structural brain malformations affect 41-52% of PHACE patients and can be associated with focal neurologic deficits, developmental delays, and/or intellectual disability. To better characterize the spectrum of structural brain and other intracranial anomalies in PHACE syndrome, MRI scans of the head/neck were retrospectively reviewed in 55 patients from the PHACE Syndrome International Clinical Registry and Genetic Repository. All registry patients with a diagnosis of definite PHACE syndrome who had MRI scans of satisfactory quality were included. Of 55 patients, 34 (62%) demonstrated ≥1 non-vascular intracranial anomaly; structural brain malformations were present in 19 (35%). There was no difference in the prevalence of brain anomalies between genders. Brain anomalies were more likely in patients with S1 and/or S2 distribution of facial hemangioma. The most common structural brain defects were cerebellar hypoplasia (25%) and fourth ventricle abnormalities (13%). Dandy-Walker complex and malformations of cortical development were present in 9% and 7%, respectively. Extra-axial findings such as pituitary anomalies (18%) and intracranial hemangiomas (18%) were also observed. Six patients (11%) had anomalies of the globes or optic nerve/chiasm detectable on MRI. Brain malformations comprise a diverse group of structural developmental anomalies that are common in patients with PHACE syndrome. Along with brain malformations, numerous abnormalities of the pituitary, meninges, and globes were observed, highlighting the need for careful radiologic assessment of these structures in the neuroimaging workup for PHACE syndrome.

Author List

Steiner JE, McCoy GN, Hess CP, Dobyns WB, Metry DW, Drolet BA, Maheshwari M, Siegel DH


Mohit Maheshwari MD Associate Professor in the Radiology department at Medical College of Wisconsin
Dawn Siegel MD Associate Professor in the Dermatology department at Medical College of Wisconsin


2-s2.0-85035013668   3 Citations

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

Abnormalities, Multiple
Aortic Coarctation
Eye Abnormalities
Infant, Newborn
Magnetic Resonance Imaging
Neurocutaneous Syndromes
Pituitary Gland
jenkins-FCD Prod-332 f92a19b0ec5e8e1eff783fac390ec127e367c2b5