title: In utero diagnosis of PHACE syndrome by fetal magnetic resonance imaging (MRI).
abstract: The acronym PHACE describes the association of facial hemangioma with anomalies of the posterior fossa, cerebral arteries, and cardiovascular and ocular alterations. This study presents a case of diagnostic suspicion based on fetal MRI. We report the case of a pregnant woman whose 26-week MRI revealed a female fetus with hypoplasia of the right cerebellar hemisphere and right microphthalmia, leading to the suspicion of PHACE syndrome. The diagnosis was confirmed at birth, together with other criteria: facial hemangioma, absent posterior inferior cerebellar artery, and dysplasia of the right internal carotid artery. To our knowledge, this is the first live case described prenatally with both ocular and cerebellar findings on fetal MRI that suggest PHACE syndrome. The prenatal presence of 2 PHACE criteria led to the suspicion of this syndrome, and prenatal diagnostic criteria might be developed to improve information regarding the prognosis of cerebellar malformations.
authors.affiliation: 1Department of Neuropediatrics, Hospital Universitario Quirón Madrid, Spain.
authors.forename: Daniel Martín
authors.initials: DM
authors.lastname: Fernández-Mayoralas
authors.forename: Manuel
authors.initials: M
authors.lastname: Recio-Rodríguez
authors.forename: Ana Laura
authors.initials: AL
authors.lastname: Fernández-Perrone
authors.forename: Mar
authors.initials: M
authors.lastname: Jiménez-de-la-Peña
authors.forename: Nuria
authors.initials: N
authors.lastname: Muñoz-Jareño
authors.forename: Alberto
authors.initials: A
authors.lastname: Fernández-Jaén
mesh_terms: D000328:Adult; D001017:Aortic Coarctation / Q000175:diagnosis*; D002531:Cerebellum / Q000196:embryology / Q000473:pathology; D005124:Eye Abnormalities / Q000175:diagnosis*; D005260:Female; D020073:Gravidity; D006801:Humans; D008279:Magnetic Resonance Imaging; D020752:Neurocutaneous Syndromes / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*