PHACE: A neurocutaneous syndrome with important ophthalmologic implications - Case report and literature review

Objectives: To introduce PHACE syndrome (Posterior fossa malformations, Hem angiomas, Arterial anomalies, Coarctation of the aorta and other cardiac de fects, and Eye abnormalities) to the ophthalmologic literature; to report t he first case of PHACE syndrome associated with congenital glaucoma; and to review the ocular and systemic findings that may occur in this entity. Design: Case report and literature review, Methods: The authors report a child with PHACE syndrome and congenital glau coma and review the ophthalmologic and systemic manifestations of this synd rome. Results: A 9-month-old girl with PHACE syndrome was treated. She had a larg e right facial hemangioma, central nervous system (CNS) abnormalities, and cardiac anomalies. Glaucoma was detected in her left eye, and she underwent glaucoma surgery. She did well following two glaucoma procedures, and the facial hemangioma is responding to medical treatment. Conclusions: Ophthalmologists who examine children with large facial hemang iomas should consider PHAGE syndrome in the differential diagnosis and shou ld obtain appropriate CNS imaging studies and cardiac evaluation when the d iagnosis is suspected. Congenital glaucoma should be added to the fist of P HACE-associated ocular anomalies.