The neurologic aspects of PHACE: case report and review of the literature.
PHACE syndrome is a neurocutaneous disorder characterized by large cervicofacial infantile hemangiomas and associated anomalies of the brain, cerebrovasculature, aorta, heart, and eyes. Two categories of neurologic disease are observed among PHACE patients: congenital malformations of the cerebellum, cerebrum, and cerebral vasculature and progressive stenoses and occlusions of principal cerebral arteries. A subgroup of patients develops a moyamoya-like vasculopathy and consequent ischemic strokes. This report details the clinical course and management of a young female with PHACE and reviews the various neurologic aspects of this neurocutaneous disorder. This patient presented with high-grade stenoses of the internal carotid arteries bilaterally, formation of extensive vascular collaterals, and multiple ischemic strokes. She underwent bilateral pial-synangiosis procedures and has not had stroke recurrence in 2 years of follow-up. The presence of a characteristic infantile hemangioma necessitates further evaluation for the extracutaneous features of PHACE. In cases of steno-occlusive vasculopathy, we recommend early consideration of encephaloduroarteriosynangiosis or a commensurate revascularization procedure.
Heyer
Geoffrey L
GL
Department of Neurology, Columbia University, New York, New York, USA. gheyer@neuro.columbia.edu
Millar
William S
WS
Ghatan
Saadi
S
Garzon
Maria C
MC
D000015:Abnormalities, Multiple / Q000473:pathology*; D001921:Brain / Q000002:abnormalities; D018376:Cardiovascular Abnormalities / Q000473:pathology; D005124:Eye Abnormalities / Q000473:pathology; D005153:Facial Neoplasms / Q000473:pathology*; D005260:Female; D006391:Hemangioma / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D018810:Magnetic Resonance Angiography; D020752:Neurocutaneous Syndromes / Q000473:pathology*