Propranolol: A miracle drug for infantile hemangioma associated with PHACES syndrome

Abstract

We report successful treatment with propranolol in a 4-month-old preterm infant diagnosed as PHACES syndrome based on the presence of a massive facial hemangioma, myoclonic spasms, delayed motor milestones, and posterior fossa anomalies. PHACES is an acronym for posterior fossa brain malformation, cervicofacial segmental hemangioma, arterial anomalies, cardiac defects/coarctation of aorta, eye and endocrine abnormalities, sternal defect, and supraumbilical raphe. The hemangioma was progressively enlarging with ulceration and ocular occlusion. Propranolol was initiated after complete evaluation and resulted in significant regression of the hemangioma without any adverse events or recurrence over a 2-year follow-up period. Mechanism of action of propranolol includes vasoconstriction and inhibition of vascular endothelial growth factor. This case report highlights the importance of investigating all infants with large hemangiomas for syndromes such as PHACES and the need to rule out intracranial vascular anomalies before initiating propranolol.