PHACE syndrome with growth hormone deficiency and absence of bilateral internal carotid arteries: a case report

Abstract

PHACE syndrome is characterized by posterior fossa malformations (P), large facial hemangiomas (H), arterial anomalies (A), cardiac anomalies or coarctation of aorta (C), and eye anomalies (E) and has striking female predominance. Endocrine abnormalities have recently been described in these patients, involving the thyroid and pituitary glands. We report the case of a 2-year-old girl with the clinical features of PHACE with absence of bilateral internal carotid arteries and isolated growth hormone deficiency.