Large segmental facial hemangiomas helped prompt the diagnosis of PHACE syndrome (posterior fossa brain malformations, hemangiomas, arterial anomalies, cardiac defects, and eye abnormalities) in an infant with cerebrovascular, structural brain, cardiac, and ocular abnormalities, researchers reported in a Cureus case report led by Claire M. Overholt of the University of Florida College of Medicine and colleagues.
PHACE syndrome is a rare neurocutaneous disorder characterized by large segmental infantile hemangiomas and associated congenital anomalies. Diagnosis is based on the presence of a large facial hemangioma plus at least one major or two minor extracutaneous criteria.
The report described a female infant born at 41 weeks of gestation with vascular lesions on the left periocular face and a midline chest-abdominal defect, initially thought to be a birth-related laceration. At 1 month of age, she developed bilateral periocular swelling, worsening facial lesions, and eye drainage, prompting hospitalization and multidisciplinary evaluation by dermatology, ophthalmology, and genetics teams.
Initial imaging identified a mega cisterna magna, later characterized on magnetic resonance imaging as a Dandy-Walker malformation with associated structural abnormalities, including white matter deficiency and periventricular neuronal heterotopia. Vascular studies showed high-flow malformations, tortuous extracranial carotid arteries, and dysplastic segments of the left middle and posterior cerebral arteries, placing the patient at elevated risk for arterial ischemic stroke.
Additional findings included bilateral orbital hemangiomas, a supraumbilical raphe—a ventral midline defect associated with PHACE syndrome—and cardiac abnormalities, including a moderate atrial septal defect and a small patent ductus arteriosus. Taken together, the patient’s large segmental facial hemangioma plus major arterial, structural brain, and ventral midline anomalies met consensus diagnostic criteria for PHACE syndrome.
The patient received aspirin at 4 mg/kg/day to reduce stroke risk, propranolol initiated at 0.5 mg/kg/day and titrated to 3 mg/kg/day with careful monitoring, and a short course of prednisolone at 1 mg/kg/day. Topical timolol was used for ocular involvement, with improvement in periocular swelling.
Following treatment, clinicians observed reduction in hemangiomas, improved eye opening, and improvement in the abdominal lesion. At 5 months, the patient demonstrated continued clinical improvement and age-appropriate developmental milestones.
PHACE syndrome affects fewer than one per million children, although prevalence increases among patients with large, segmental facial hemangiomas. Early recognition is critical because associated cerebrovascular anomalies may increase the risk for stroke and long-term neurologic complications.
The findings highlight the importance of prompt evaluation of large facial hemangiomas and coordination of multidisciplinary care. “Timely diagnosis enables appropriate imaging, multidisciplinary involvement, and early initiation of targeted therapies, resulting in improved clinical outcomes,” the researchers wrote.
This report describes a single patient, limiting generalizability. Long-term outcomes and optimal imaging frequency in PHACE syndrome remain unclear.
The researchers reported no financial support or conflicts of interest.
Source: Cureus
