PHACE(S) syndrome: Report of a case with new ocular and systemic manifestations

Abstract

PurposeTo describe an infant with PHACE(S) syndrome [posterior fossa anomalies (P), hemangiomas (H), arterial anomalies (A), cardiac abnormalities and coarctation of aorta (C), eye abnormalities (E), and the sternal defects (S)] with unusual strabismus, congenital glaucoma, and new systemic manifestations.MethodsA 6-month-old girl was referred with large hemangiomas on the left side of the face.ResultsIn the ocular examination, right esotropia and hypotropia, and limitation of elevation in adduction in the right eye were seen. Morning glory disk anomaly was seen in the left fundus. Intraocular pressure (IOP) was 28 mmHg in the right eye and 15 mmHg in the left eye. Brain computed tomography (CT) scan demonstrated Dandy-Walker malformation. In the CT angiography of the thoracic arteries, coarctation of aorta in descending part, the aberrant origin of the left subclavian artery from the end of the aortic arch, and anomalous origin of the left vertebral artery from the posterior aspect of the aortic arch were found. Therefore, the presence of large facial hemangioma, posterior fossa anomaly, aortic arch anomalies, and morning glory disk confirmed the diagnosis of PHACE(S) syndrome. Propranolol (0.5 mg/kg/day) was initiated to treat hemangioma and coarctation of aorta. Due to uncontrolled glaucoma, goniotomy was performed in the right eye 3 months after the first visit. One year after the initial visit, the hypotropia and esotropia of the right eye considerably decreased.ConclusionsTo our knowledge, this report was the first report of a pattern like Brown’s syndrome (may be called apparent Brown’s syndrome) and the second report of the congenital glaucoma in a case of PHACE(S) syndrome. In addition, the anomalous origin of the vertebral artery from the aortic arch has not been reported in the PHACE(S) syndrome. Thus, the clinicians should perform the glaucoma work-up for each patient with this syndrome.

Artère stapédienne persistante dans le cadre d’un syndrome PHACE

“…Le syndrome PHACE est un syndrome rare cérébro-facial impliquant plusieurs segments consécutifs de la crête neural. La prédominance féminine a fait suspecter une anomalie dominante liée à l'X [3]. Le diagnostic est le plus souvent posé à la naissance devant des hémangiomes associés à des atteintes de la fosse postérieure (hypoplasie cérébelleuse, kyste arachnoïdien, dysgénésies corticales ou malformation de type Dandy-Walker) et des anomalies artérielles dans la grande majorité des cas unilatérales et homolatérales aux hémangiomes [1,2].…”