Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome

Jack E. Steiner, Garrett N. McCoy, Christopher P. Hess, William B. Dobyns, Denise W. Metry, Beth A. Drolet, Mohit Maheshwari, Dawn H. Siegel

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19 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)48-55
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Issue number1
StatePublished - Jan 2018
Externally publishedYes

Bibliographical note

Funding Information:
The authors are grateful for the support of the Greater Milwaukee Foundation, the Society for Pediatric Dermatology, the Dermatology Foundation, Children's Hospital of Wisconsin Research Institute, PHACES Foundation of Canada, and the PHACE Syndrome Community. This work was funded by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) of the National Institutes of Health (NIH), award number 1R01AR064258.

Publisher Copyright:
© 2017 Wiley Periodicals, Inc.


  • PHACE syndrome
  • brain malformations
  • eye abnormalities
  • magnetic resonance imaging
  • pituitary gland


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