Bilateral pial synangiosis in a child with PHACE syndrome

• Published in: Journal of neurosurgery. Pediatrics Vol. 17; no. 1; p. 70
• Main Authors: Jack, Andrew S, Chow, Michael M, Fiorillo, Loretta, Chibuk, Thea, Yager, Jerome Y, Mehta, Vivek
• Format: Journal Article
• Language: English
• Published: United States 01.01.2016
• Subjects: Aortic Coarctation - complications; Aortic Coarctation - surgery; Eye Abnormalities - complications; Eye Abnormalities - surgery; Female; Humans; Infant; Intracranial Arterial Diseases - etiology; Intracranial Arterial Diseases - surgery; Neurocutaneous Syndromes - complications; Neurocutaneous Syndromes - surgery; Neurosurgical Procedures - methods; Pia Mater - surgery; Vascular Surgical Procedures - methods; hemangioma; PHACE; AP = anteroposterior; pial synangiosis; vascular anomalies; MCA = middle cerebral artery; PCoA = posterior communicating artery; ICA = internal carotid artery; vascular disorders; ECA = external carotid artery; PCA = posterior cerebral artery; VA = vertebral artery; AIS = arterial ischemic stroke; STA = superficial temporal artery; CCA = common carotid artery; ACoA = anterior communicating artery; arterial ischemic syndrome; PHACES association; MMD = moyamoya disease
• ISSN: 1933-0715
• DOI: 10.3171/2015.5.PEDS1578

The acronym PHACE has been used to denote a constellation of abnormalities: posterior fossa anomalies, facial hemangiomas, arterial anomalies, cardiac anomalies, and eye abnormalities. Approximately 30% of patients with large facial hemangiomas have PHACE syndrome, with the vast majority having intracranial arteriopathy. Few reports characterize neurological deterioration from this intracranial arteriopathy, and even fewer report successful treatment thereof. The authors report on a case of a child with PHACE syndrome who presented with an ischemic stroke from a progressive intracranial arteriopathy and describe her successful treatment with bilateral pial synangiosis. An 8-month old girl diagnosed with PHACE syndrome was found to have bilateral internal carotid artery stenosis. Although initially asymptomatic, a few months after diagnosis she suffered a right frontal and parietal stroke. MRI and cerebral angiography investigations demonstrated progressive intracranial arterial stenosis and occlusion. The patient then underwent indirect cerebral revascularization surgery. At 2-year follow-up, she exhibited clinical improvement with persistent speech and motor developmental delay. Follow-up MRI and cerebral angiography showed no new ischemic events and robust extensive vascular collateralization from surgery. PHACE syndrome is an uncommon disease, and affected patients often have cerebral arteriopathy. Although the underlying natural history of cerebral arteriopathy in PHACE remains unclear, cerebral revascularization may represent a potential therapy for symptomatic patients.