PHACE (posterior fossa brain malformations, hemangiomas, arterial anomalies, cardiac defects, and eye abnormalities) syndrome is a rare neurocutaneous disorder characterized by large segmental infantile hemangiomas and associated congenital anomalies involving the brain, heart, eyes, and arterial vasculature. We present a case of a female infant with vascular lesions on the left periocular face, a midline chest and abdominal defect, and imaging findings of Dandy-Walker malformation, bilateral orbital hemangiomas, and cerebrovascular anomalies. She was ultimately diagnosed with PHACE syndrome based on clinical criteria. This case highlights the importance of early recognition of large facial hemangiomas as potential indicators of PHACE syndrome and the need for timely multidisciplinary evaluation to reduce the risk of serious complications such as stroke, seizure, visual and cognitive impairment, or critical aortic arch stenosis.
Overholt et al. (Tue,) studied this question.