PHACE syndrome: Association with Persistent Fetal Vasculature and coloboma-like iris defect

Lasky, Janice B.; Sandu, Mariana; Balashanmugan, Aarthi

doi:10.1016/j.jaapos.2004.06.014

Cited by 27 publications

(16 citation statements)

References 6 publications

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“…That patient was subsequently found to have a ventricular septal defect a facial haemangioma and a malformation of the eye and optic nerve head. Lasky et al 6 reported a case of PHACE syndrome in association with PFV and coloboma-like iris defect. Ophthalmological findings have been noted in approximately one-third of patients reported with PHACE syndrome.…”

Section: Discussionmentioning

confidence: 99%

PHACE syndrome with lip haemangioma, microphthalmos and persistent fetal vasculature

Nayak

Sinha

et al. 2016

BMJ Case Reports

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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.

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Section: Discussionmentioning

confidence: 99%

PHACE syndrome with lip haemangioma, microphthalmos and persistent fetal vasculature

Nayak

Sinha

et al. 2016

BMJ Case Reports

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“…The optic nerve malformation in this case was suggestive of a mild form of morning glory disk anomaly [10] and the overall complex ocular malformation could be considered a mild form of persistent hyperplastic primary vitreous (PHPV), also called persistence of the fetal vasculature (PFV) [11]. We are aware of only one other patient with PFV and PHACE syndrome [12]. This last patient did not have a morning glory disk anomaly.…”

Section: Discussionmentioning

confidence: 92%

PHACE syndrome: Report of a case with a glioma of the anterior skull base and ocular malformations

Cannady

Kahn

Traboulsi

et al. 2006

International Journal of Pediatric Otorhinolaryngology

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“…In a recent study on 23 cases of PHACE(S) syndrome, 14% of the cases showed ocular involvement 4 . The reported ocular manifestations of this syndrome could be divided into posterior segment abnormalities (morning glory disk anomaly,3, 5 persistent fetal vasculature,3, 6 peripapillary staphyloma,3, 7 retinal vascular anomalies,3, 8 optic nerve hypoplasia and atrophy,3, 6, 8, 9 choroidal hemangioma,8, 9 and retinal coloboma 3 ), anterior segment abnormalities (cataract,3, 5, 6, 8, 10 microphthalmia,3, 5, 6, 8, 9, 10, 11 conjunctival hemangioma, 8 posterior embryotoxon,8, 9 Mittendorf dots, 5 corneal opacity, 8 sclerocornea,3, 8 iris coloboma,3, 6 iris heterochromia, 8 iris hypoplasia,6, 11 and iris vessel hypertrophy3, 6), and miscellaneous ocular abnormalities (congenital glaucoma, 9 cryptophthalmos,8, 9 proptosis,3, 8, 9 Horner syndrome,3, 5, 8 congenital 3rd or 4th nerve palsies,3, 11 strabismus,5, 8, 9 and ptosis5, 8). …”

Section: Discussionmentioning

confidence: 99%

“…Boulinguez and colleagues added the sternal defects (S) to this acronym and changed the name to PHACES syndrome 2 . Females were dominant in most series of this syndrome 1, 2, 3, 4, 5, 6, 7, 8, 9, 10. Most reported cases were sporadic, but mutations in the X-linked genes were proposed to cause this syndrome in some patients 1, 2, 3, 4, 5, 6, 7, 8, 9, 10…”

Section: Introductionmentioning

confidence: 99%

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

Assari

Ziaee

Moghimi

et al. 2017

Journal of Current Ophthalmology

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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.

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PHACE syndrome: Association with Persistent Fetal Vasculature and coloboma-like iris defect

Cited by 27 publications

References 6 publications

PHACE syndrome with lip haemangioma, microphthalmos and persistent fetal vasculature

PHACE syndrome with lip haemangioma, microphthalmos and persistent fetal vasculature

PHACE syndrome: Report of a case with a glioma of the anterior skull base and ocular malformations

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

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