PHACES association: a neuroradiologic review of 17 patients

Abstract

Background and purpose: We present neuroradiologic findings in 17 patients with posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, eye abnormalities, and sternal or ventral defects (PHACES) association and identify those at highest risk of central nervous system (CNS) structural, cerebrovascular, and neurodevelopmental abnormalities.

Materials and methods: Patients with PHACES association were identified in the Vascular Anomalies Program at New York University Medical Center from 1998 to 2007. Many patients were followed in conjunction with other specialists at the Birthmark Institute at Roosevelt Hospital. Clinical records and imaging studies were reviewed retrospectively. Criteria for diagnosis of PHACES were based on previously published indicators. Imaging studies were independently re-reviewed by a neuroradiologist. Segmental mapping of cutaneous hemangioma distribution by photograph review and presence or absence of other PHACES-associated findings were correlated with radiologic findings.

Results: Patients with large facial cutaneous (S1-S4) hemangiomas were especially at risk of CNS structural and cerebrovascular anomalies; S1 with ocular anomalies; and S3 with airway, ventral, and cardiac anomalies. All patients with CNS structural malformations had a cerebrovascular abnormality, and this cohort was at risk for developmental and/or other neurologic sequelae. Four patients had supratentorial CNS anomalies, including cortical dysgenesis and migration abnormalities. Some patients with CNS arteriopathy progressed to aneurysms.

Conclusion: Our data support and expand the work of others, identifying risk factors for segmental hemangiomas. In addition to posterior fossa CNS anomalies, supratentorial anomalies may be present in patients with PHACES, and this may correlate with significant clinical sequelae. The long-term prognosis of these patients remains unknown.

Fig 1.

A, Eight initial embryonic developmental patterns are identified. B, Final segmental patterns are extracted from image analysis: S1 (frontotemporal), S2 (maxillary), S3 (mandibular), S4 (frontonasal). Reproduced with permission from J Pediatr 139:117-23, copyright 2001 by the AAP.

Fig 2.

A, Color photograph of patient 10, illustrating a hemangioma in an S3 distribution. Note additional thoracic and supraumbilical raphe. B, Color photograph of patient 1 with S1-S4 cutaneous distribution.

Fig 3.

A, Axial T1-weighted image of the brain demonstrates decreased size of the left hemisphere and abnormally thickened left frontoparietal cortex (arrowheads). Also demonstrated is an abnormal pattern of sulcation with thickened gyri. B, Coronal T2-weighted image of the brain demonstrates prominent thickening of the left temporoparietal cortex with poor gray-white discrimination. Well-defined gray-white differentiation on the right (arrows) is marked for normal comparison.

Fig 4.

A, Coronal maximum-intensity-projection reconstruction from intracranial time-of-flight MRA demonstrates an ectatic and tortuous appearance of the left precavernous and cavernous ICA (arrow). B, 3D MRA rendering from NOVA with flow measurement through the cervical left ICA. The left ICA at the skull base is markedly irregular and tortuous.

Fig 5.

Postcontrast coronal T1-weighted image of the brain again demonstrates the abnormally enhancing mass (arrow) just below right-sided portions of the hypothalamus. Vague surface enhancement along the right temporal lobe is noted (arrowheads).