title: PHACE syndrome with lip haemangioma, microphthalmos and persistent fetal vasculature.
abstract: An 11-month-old baby girl presented with white reflex in her left eye. On examination, there was a 6.5×5 mm(2)haemangioma present over her face involving on her lower lip. Systemic examinations were within normal limits. The left eye was small, with an axial length of 16.08 mm and had a cataract. Ultrasonography of the left eye was suggestive of the presence of a vascular stalk, persistent hyperplasia of a primary vitreous, or persistent fetal vasculature with vitreous haemorrhage. On MRI, the left eye was small with vitreous haemorrhage. Left eye lens aspiration was performed and the bleeding vascular stalk behind the lens was cauterised with diathermy. The right eye was normal. The patient was diagnosed as having PHACE syndrome (Posterior fossa malformations, Hemangiomas, Arterial anomalies, Coarctation of the aorta and other cardiac defects, and Eye abnormalities syndrome). On follow-up, she was able to follow light with her left eye.
authors.affiliation: Lok Nayak Hospital, New Delhi, India.
authors.forename: Lipika
authors.initials: L
authors.lastname: Nayak
authors.affiliation: Dr RP Centre, AIIMS, New Delhi, India.
authors.forename: Bhagabat
authors.identifier: http://orcid.org/0000-0001-5796-2591
authors.initials: B
authors.lastname: Nayak
authors.affiliation: Department of Ophthalmology, Dr RP Centre, AIIMS, New Delhi, India.
authors.forename: Gautam
authors.initials: G
authors.lastname: Sinha
authors.affiliation: Department of Ophthalmology, Dr RP Centre, AIIMS, New Delhi, India.
authors.forename: Sudarshan
authors.initials: S
authors.lastname: Khokhar
mesh_terms: D001017:Aortic Coarctation / Q000175:diagnosis* / Q000473:pathology / Q000601:surgery*; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000601:surgery*; D005260:Female; D006391:Hemangioma / Q000473:pathology; D006801:Humans; D007223:Infant; D008048:Lip Neoplasms / Q000473:pathology; D008850:Microphthalmos / Q000473:pathology / Q000601:surgery; D020752:Neurocutaneous Syndromes / Q000175:diagnosis* / Q000601:surgery*; D016896:Treatment Outcome