Clin Pediatr Hematol Oncol.  2017 Oct;24(2):140-143. 10.15264/cpho.2017.24.2.140.

PHACE Syndrome with Large Facial Segmental Hemangioma and Cerebellar Hypoplasia

• Lee YJ
• Yeon GM
• Kong SG

• KMID: 2396016
• DOI: http://doi.org/10.15264/cpho.2017.24.2.140

Abstract

Infantile hemangiomas are the most common benign tumors in infants. Facial segmental hemangiomas are often accompanied by other anomalies, and pre-treatment evaluation is needed. PHACE syndrome is associated with Posterior fossa anomalies, Hemangiomas, Arterial anomalies, Cardiac anomalies, and Eye anomalies (PHACE). PHACE syndrome is diagnosed in about 30% of patients with facial segmental hemangiomas. In PHACE syndrome, facial hemangioma usually requires initial treatment; propranolol use is increasing as a first-line treatment despite the risk of stroke. We report a case of PHACE syndrome in a patient with large facial hemangiomas, left cerebellar hypoplasia, and an absent A1 segment of the anterior cerebral artery. After 1 year of treatment with oral propranolol, facial hemangiomas improved and normal development was observed until 24 months of age. Evaluation of PHACE syndrome is important in patients with large facial segmental hemangiomas, and propranolol can be considered a first-line therapy for hemangioma.

Keyword

PHACE association; Propranolol; Cerebellar hypoplasia; Hemangioma

MeSH Terms

Anterior Cerebral Artery
Hemangioma*
Humans
Infant
Propranolol
Stroke
Propranolol