A case of neurocutaneous syndrome associated with facial hemangioma: PHACE syndrome

Article type: Research Article

Authors: Kalane, Umesh | Kulkarni, Shilpa

Affiliations: Department of Pediatric Neurology, BJWH for Children, Parel, Mumbai, India

Note: [] Correspondence: Dr. Umesh Kalane, Flat no.16, Hamy Plaza-A, Katraz-S.N.87, Pune-46, Maharashtra, India. Tel.: +91 9869571694; Fax: +91 24137000; E-mail: umeshkalane@yahoo.com

Abstract: PHACE syndrome (posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects and eye abnormalities) is a rare congenital anomaly with a broad spectrum of clinical manifestations. We describe an infant with PHACE syndrome with its classical features. Review of the literature documents a highly significant association between ipsilateral hemangiomas and cerebrovascular and aortic arch anomalies. It is important to differentiate between Sturge-Weber syndrome and PHACE syndrome.

Keywords: PHACE syndrome, facial hemangiomas, arterial anomalies

DOI: 10.3233/JPN-2009-0298

Journal: Journal of Pediatric Neurology, vol. 7, no. 3, pp. 325-327, 2009