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  • Print publication year: 2014
  • Online publication date: June 2014

Case 10 - PHACES syndrome (Posterior fossa malformations, Hemangiomas of the face, Arterial anomalies, Cardiovascular anomalies, Eye anomalies, and Sternal defects or supraumbilical raphe)

from Section 1 - Head and neck

Summary

Imaging description

A neonate presented with multiple facial hemangiomas. Multiple enhancing lesions were seen in right facial and extraconal spaces of the right orbit (Fig. 10.1a), as well as in bilateral masticator and parapharyngeal spaces (Fig. 10.1b). Multiple flow-voids were seen in these lesions, suspicious for hemangiomas. Additionally, evaluation of the brain showed dysplastic right cerebellum (Fig. 10.1c), additional enhancing lesion in the right auditory canal (Fig. 10.1d), and steno-occlusive disease of the right internal carotid artery along the petrous and cavernous segments (Fig. 10.1e).

Importance

PHACES syndrome is an under-recognized syndrome. In addition to a thorough cutaneous, cardiac, and ophthalmologic evaluation, patients with cervicofacial hemangiomas should undergo a full neurologic evaluation, including an MRI of the brain and an MR angiogram of the head and neck. Patients with severe cerebrovascular disease may benefit from revascularization and/or aggressive medical therapy to prevent ischemic injury.

Typical clinical scenario

A typical clinical presentation is a young infant with a facial hemangioma and developmental delay. Structural abnormalities of the brain on imaging most commonly involve the posterior fossa. Posterior fossa anomalies include a Dandy–Walker malformation and its spectrum, including hypoplasia of the cerebellar vermis or cerebellar hemispheres. Other malformations are less common and include cortical dysplasia, heterotopia, and polymicrogyria. Corpus callosal abnormalities, including agenesis or hypoplasia, have also been described.

References
Frieden, IJ, Reese, V, Cohen, D. PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Arch Dermatol 1996;132(3):307–11.
Hartemink, DA, Chiu, YE, Drolet, BA, et al. PHACES syndrome: a review. Int J Pediatr Otorhinolaryngol 2009;73(2):181–7.
Heyer, GL, Dowling, MM, Licht, DJ, et al. The cerebral vasculopathy of PHACES syndrome. Stroke 2008;39(2):308–16.