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Infantile Orofacial Hemangioma With Ipsilateral Peripapillary Excavation in Girls: A Variant of the PHACE Syndrome
Arch Ophthalmol. 2004;122:413-415.
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The PHACE syndrome is a neurocutaneous syndrome that includes the following primary features: posterior fossa malformations of the brain, large facial hemangiomas, arterial anomalies, cardiac anomalies and aortic coarctation, and eye abnormalities.1-2 It occurs almost exclusively in girls. Several recent reports have documented an association between orofacial hemangioma and excavated optic disc anomalies (morning glory disc anomaly and peripapillary staphyloma) in girls. Metry et al2 recently proposed that this association falls within the spectrum of PHACE syndrome. We document ipsilateral intracranial vascular abnormalities in 2 girls with juvenile orofacial hemangioma and excavated optic discs to provide further evidence that these patients fall within the spectrum of PHACE syndrome.
Report of Cases
Case 1
A 6-year-old girl was referred for evaluation of unilaterally decreased vision in the right eye. She was born full term, and her perinatal course was uneventful. At 2 weeks of age, she developed multiple hemangiomas involving the face, lip, parotid gland, and . . . [Full Text of this Article] Case 2
Comment
Christoph Kniestedt, MD;
Klara Landau, MD
Zurich, Switzerland
Michael C. Brodsky, MD;
Paula North, MD;
Milton Waner, MD
Little Rock, Ark
Corresponding author: Michael C. Brodsky, MD, Ophthalmology and Pediatrics, Arkansas Children's Hospital, 800 Marshall St, Little Rock, AR 72202-3591 (e-mail: brodskymichaelc@uams.edu).
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