A Case of PHACES Syndrome with Successful Treatment of Facial Haemangioma With Propranolol.

This article was accepted: 15 February 2013 Corresponding Author: Su Yuen Ng, Institut Pediatrik, Paediatrics, Hospital Kuala Lumpur, Jalan Pahang, Kuala Lumpur, Wilayah Persekutuan 50586, Malaysia Email: ngsy2002@yahoo.com We report a case of a 29 day old infant who was referred for evaluation of a vision threatening extensive segmental facial haemangioma. She developed a small reddish patch over her left cheek since birth which was progressively increasing in size and thickness to involve almost the whole of the left side of her face, associated with ulceration and abrasion of her left eyelid. She was born full term with birth weight of 3.2kg and was the second child of parents of non-consanguineous marriage. She was started on Prednisolone 2mg/kg/day and given intralesional triamcinolone and dexamethasone by the ophthalmologist. Ophthalmological assessment showed mechanical ptosis of the left eye and mild left retinal vessel tortuosity. A magnetic resonance imaging (MRI), magnetic resonance angiography (MRA) and magnetic resonance venography (MRV) of the brain revealed Dandy Walker malformation and right posterior parietal pial angiomatosis. In view of the presence of a facial segmental haemangioma and posterior fossa malformation, a diagnosis of PHACES syndrome was made. PHACES is an acronym for posterior fossa malformations, haemangiomas, arterial anomalies, cardiac abnormalities, eye abnormalities and sternal defects or supraumbilical raphe.