Moyamoya syndrome and PHACE syndrome: clinical and radiographic characterization of the intracranial arteriopathy and response to surgical revascularization

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OBJECTIVE

PHACE syndrome (PHACES) has been linked to cervical and cerebral vascular anomalies, including persistent embryonic anastomoses and progressive steno-occlusive disease. However, no prior studies have documented the long-term response of PHACES patients with moyamoya disease to surgical revascularization with pial or myosynangiosis. The authors present their experience with 8 consecutive patients with PHACES and moyamoya disease.

METHODS

Retrospective review of patients who underwent pial synangiosis revascularization for moyamoya disease with concurrent diagnosis of PHACES.

RESULTS

A total of 8 patients out of 456 surgically treated moyamoya patients had a diagnosis of PHACES. All patients were female, and their average age at the time of surgical treatment was 9.3 years (range 1.8–25.8 years). Five patients had associated basilar artery anomalies or stenosis. All patients had symptomatic narrowing of the petrous segment of the internal carotid artery with tortuous collateralization. Three patients underwent unilateral pial or myo-synangiosis and 5 underwent bilateral procedures. The average hospital length of stay was 5.0 days (range 3–7 days). There were no postoperative complications. Follow-up ranged from 8 to 160 months (average 56 months). Seven of 8 patients have had follow-up angiograms and all had Matsushima grade A or B collateralization without progression of stenosis in other locations. All patients had reduced cortical FLAIR signal on 6-month follow-up MRI and no evidence of new radiographic or clinical strokes.

CONCLUSIONS

Patients with moyamoya disease and PHACES had an intracranial arteriopathy characterized by ectactic anterior vasculature with concomitant basilar artery stenosis, and were all female. The patients had both radiographic and clinical responses to pial synangiosis. The surgical treatment of these patients can be challenging given facial hemangiomas located near the surgical field. Patients with unilateral disease did not have evidence of progression in other cerebral circulation during the given follow-up period.

ABBREVIATIONS ADL = activities of daily living; mRS = modified Rankin Scale; PHACES = PHACE syndrome; TIA = transient ischemic attack.

Article Information

Correspondence Edward R. Smith: Children’s Hospital Boston, Harvard Medical School, Boston, MA. edward.smith@childrens.harvard.edu.

INCLUDE WHEN CITING Published online February 1, 2019; DOI: 10.3171/2018.10.PEDS18582.

Disclosures The authors report no conflict of interest concerning the materials or methods used in this study or the findings specified in this paper.

© AANS, except where prohibited by US copyright law.

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    Lateral vertebral artery injection (left) and common carotid artery injection (right) angiograms obtained in a patient with a basilar artery anomaly and characteristic narrowing of the petrous segment of the internal carotid artery.

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    Operative photographs demonstrating aspects of pial synangiosis. A: Initial wide, stellate dural opening. B: Arachnoidal opening throughout operative field. C: Synangiosis with 10–0 nylon. D: Conclusion of synangiosis, with dural leaflets reflected back into area of arachnoidal opening, without dural closure. Figure is available in color online only.

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