Case Report: Two-month-old infant with PHACE syndrome: facial hemangioma and severe complex coarctation of the aorta

Abstract

Background: PHACE syndrome is an uncommon disorder, marked by large segmental hemangiomas on the face and various developmental anomalies. Significant advancements have been made in its diagnosis, imaging, and understanding of complications since 1996.

Case summary: We describe the first diagnosis case of PHACE syndrome in a one-month and 19-day-old infant who presented with a large facial hemangioma and coarctation of the aorta originating from the left common carotid artery, along with an aberrant course of the right subclavian artery. The complementary diagnostic studies, their surgical correction, and their progression are described.

Discussion: Given the rarity of the syndrome (the PHACE Syndrome International Clinical Registry and Genetic Repository has over 270 enrolled individuals) and the importance of early diagnosis of some anomalies it comprises, particularly cardiovascular anomalies, dissemination is considered crucial for general and pediatric cardiologists.

Keywords: PHACE syndrome; aortic coarctation; aortic malformations; hemangioma; neural crest migration.

Figure 1

Three-dimensional reconstruction of aortic CT angiography. Periductal aortic stenosis extends 10 mm craniocaudally with a 1 mm diameter. Distal aorta measures 4 mm, widening to 5 mm at the diaphragmatic hiatus. An aberrant right subclavian artery collapses the esophagus. The left common carotid artery is reduced to 2 mm. at its origin. A partially filled ductus is observed with a diameter of 3 mm.

Figure 2

Composition that summarizes the main milestones of the case. The first panel shows an infant with a large facial hemangioma (the figure was created using an artificial intelligence tool and does not correspond to a real image). Subsequent panels present diagnostic images and key lessons.