PHACE syndrome with intracerebral hemangiomas, heterotopia, and endocrine dysfunction.
PHACE is an acronym to describe the association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta, cardiac defects, and eye abnormalities. More than 200 cases have been reported. The present report presents the cases of two female infants with PHACE syndrome, both of whom had additional congenital defects of subependymal gray matter heterotopia, craniofacial arterial anomalies, and pituitary dysfunction. One had an extensive segmental facial hemangioma with ipsilateral intracranial hemangiomas. The other had multiple cutaneous hemangiomas, but no segmental facial hemangioma. These two cases suggest a further expansion of the spectrum of PHACE to include other forms of disordered cerebral development and endocrine dysfunction.
Poindexter
Gabriele
G
Department of Dermatology, University of North Carolina at Chapel Hill, NC 27599-7287, USA. gpoindex@unch.unc.edu
Metry
Denise W
DW
Barkovich
A James
AJ
Frieden
Ilona J
IJ
D000015:Abnormalities, Multiple / Q000473:pathology*; D001017:Aortic Coarctation / Q000473:pathology; D001927:Brain Diseases / Q000473:pathology*; D002540:Cerebral Cortex / Q000002:abnormalities; D002828:Choristoma / Q000473:pathology*; D003388:Cranial Fossa, Posterior / Q000002:abnormalities*; D004805:Ependyma; D005124:Eye Abnormalities / Q000473:pathology; D005260:Female; D006391:Hemangioma / Q000473:pathology*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D010900:Pituitary Diseases / Q000473:pathology*