PHACE Syndrome in a Child with Structural Malformations of the Brain

J Pediatr Genet. 2020 Jul 23;10(4):315-318. doi: 10.1055/s-0040-1714066. eCollection 2021 Dec.

Abstract

PHACE syndrome is an acronym that describes a neurocutaneous condition, consisting of posterior fossa malformations that coexist with large facial hemangiomas, eye anomalies, and cardiac/aortic defects. The prognosis of the disease has not been clearly identified. There appears to be a risk of stroke in children with arterial anomalies. Radiological examinations play a considerable role in determining the degree of intracranial, cardiac involvement and the probable complications. In this article, we reported a 4-month-old boy with PHACE syndrome that has been diagnosed through a large segmental infantile hemangioma involving the eye and over the left half of the face in brain magnetic resonance imaging and magnetic resonance angiography findings. One month after starting propranolol therapy, there was a noticeable reduction in the size of the lesions. Almost complete resolution of the hemangioma was seen after a 6 months of propranolol therapy.

Keywords: PHACE syndrome; infantile hemangioma; propranolol.

Publication types

  • Case Reports

Grants and funding

Funding None.