PHACES syndrome with cataract and Horner’s syndrome: a case report

PHACES syndrome (Posterior Fossa Malformations, Hemangioma, Arterial Anomalies, Cardiac Defects and Coarctation of the Aorta, Eye Abnormalities, and Sternal Abnormalities or Ventral Developmental Defects) is a rare neurocutaneous syndrome, which characteristic feature is large segmental hemangioma. Extracutaneous involvement is an important cause of morbidity in this syndrome.
Described below is an infant with large hemangiomatous lesions on the right side of the face, suprasternal notch, midline sternal defect and supraumbilical raphe. Based on the new consensus on the diagnostic criteria of PHACES syndrome, a definitive diagnosis of PHACES syndrome has been corroborated. Accordingly, our patient was analyzed with regards to other clinical features through magnetic resonance imaging of the head, neck and abdomen, all of which were normal. In echocardiography, the patient showed atrial septal defect, in addition to ipsilateral conductive hearing loss, contralateral cataract and Horner’s syndrome, which was reported only in very few cases. The clinical presentation of the present case was different from most previous reported ones, as segmental hemangioma in PHACES syndrome was, for the most part, located on the left side of the face and ocular involvement was predominantly reported ipsilateral to hemangiomatous lesion.