PHACE syndrome: new views on diagnostic criteria

PHACES Association: A Neuroradiologic Review of 17 Patients

“…4,8,13,18,19 Malformations typically involve the posterior fossa, presenting as a DandyWalker complex, isolated cerebellar hemispheric hypoplasia, or a combination of the 2; our sample was similar in this regard. Half of our patients had a CNS structural malformation.…”

“…3,4,12,15,19,29,30 The intracranial hemangiomas were located in the internal auditory canal and cerebellopontine angle as reported by Judd et al, 31 and these lesions involuted in parallel with the facial hemangiomas. One of our patients had a contrast-enhancing mass anterior to the cerebral peduncle that was isointense with the facial hemangioma.…”

“…4,8,13,18,19 Rates may be even higher because vascular imaging may not be performed on every patient with PHACES. Within our sample, 13 of 17 patients underwent an MRA.…”

“…This has been reported in only 2 other cases. 12,19 Intracranial hemangiomas are uncommon in children. As with other hemangiomas of infancy, it is anticipated that these will involute, and this change can be documented with repeat MR imaging.…”

PHACES Syndrome: From the Brain to the Face via the Neural Crest Cells

“…9 NCC contribute to the formation of the cardiac septum and the trunks of the great vessels, and patients with PHACES syndrome often have tetralogy of Fallot, anomalous origin of the aorta, a common brachiocephalic trunk, aortic coarctation, and other anomalies of the great vessels. 10 Although a matter of controversy, it seems too that cranial and trunk NCC have the potential to generate bone and cartilage, and this could explain the skull base, facial (clefting), and sternal anomalies seen in the syndrome. 9 Finally, NCC contribute to the formation of the eye at the optic vesicle stage, explaining many of this organ's malformations found in the PHACES syndrome.…”