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Case Report
PHACE Syndrome with Large Facial Segmental Hemangioma and Cerebellar Hypoplasia
Clin Pediatr Hematol Oncol 2017;24:140-3.
Published online October 31, 2017
© 2017 Korean Society of Pediatric Hematology-Oncology and Korean Society for Pediatric Neuro-Oncology

Young Joon Lee, M.D., Gyu Min Yeon, M.D. and Seom Gim Kong, M.D.

Department of Pediatrics, Kosin University Gospel Hospital, Kosin University College of Medicine, Busan, Korea
Correspondence to: Seom Gim Kong
Department of Pediatrics, Kosin University Gospel Hospital, 262 Gamcheon-ro, Seo-gu, Busan 49267, Korea
Tel: +82-51-990-6278 Fax: +82-51-990-3065 E-mail: ana313@hanmail.net
Received September 7, 2017; Revised September 16, 2017; Accepted September 26, 2017.
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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.
Keywords: PHACE association, Propranolol, Cerebellar hypoplasia, Hemangioma
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October 2018, 25 (2)
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  • Seom Gim Kong