PHACE Syndrome Associated With Congenital Oculomotor Nerve Palsy

Murthy, Ramesh; Naik, Milind N.; Desai, Savari; Honavar, Santosh G

doi:10.1080/09273970902798490

Cited by 3 publications

(2 citation statements)

References 13 publications

(23 reference statements)

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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%

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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Section: Discussionmentioning

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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“…Neurologic findings are relatively common in patient's with PHACES syndrome, however only 6 reports of cranial nerve palsies identified in a patient with PHACES syndrome have been published. Three separate reports have described a total of 4 patients with PHACES syndrome and an oculomotor nerve palsy [13][14][15]. Three of these patients had associated cerebellar hypoplasia while another patient's oculomotor nerve palsy was associated with an aberrant internal carotid artery.…”

Section: Discussionmentioning

confidence: 99%

Propranolol-responsive cranial nerve palsies in a patient with PHACES syndrome

Rassi

MacArthur

2015

International Journal of Pediatric Otorhinolaryngology

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Multiple Pathological Ocular Findings in a Patient With PHACE Syndrome

Biler¹,

Üretmen²

2016

J Pediatr Ophthalmol Strabismus

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The authors describe a 2-year-old girl diagnosed as having posterior fossa malformations, hemangiomas, arterial anomalies, cardiac anomalies, and eye abnormalities (PHACE) syndrome that presented with a large facial hemangioma of the forehead and eyelid, ptosis, microphthalmia, persistent pupillary membrane and pupillary ectopia, congenital oculomotor nerve palsy of the affected eye, and bilateral optic disc dysplasia. [J Pediatr Ophthalmol Strabismus. 2016;53:e72-e74.].

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PHACE Syndrome Associated With Congenital Oculomotor Nerve Palsy

Cited by 3 publications

References 13 publications

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

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

Propranolol-responsive cranial nerve palsies in a patient with PHACES syndrome

Multiple Pathological Ocular Findings in a Patient With PHACE Syndrome

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