ArticleChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2019
Moyamoya angiopathy in PHACE syndrome not associated with RNF213 variants.
Article in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 5 citations in OpenAlex.
- PHACE syndrome: looking backward and forward.Orphanet journal of rare diseases · 2025Review
- "Face(s)" of a PHACE(S) Syndrome Patient before and after Therapy: Particular Case Report and Review of Literature.Children (Basel, Switzerland) · 2022Article
- Scepter-Mini Balloon Assisted Coil Embolization of an Intracranial Arterial Aneurysm in a Child with PHACE Syndrome via a Persistent Trigeminal Artery.Neurointervention · 2021Article
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Authors and funding
7 authors at 4 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Moyamoya angiopathy is a rare vasculopathy with stenosis and/or occlusion of bilateral intracranial parts of internal carotid arteries and/or proximal parts of middle and anterior cerebral arteries. PHACE syndrome is characterized by large segmental hemangiomas in the cervical-facial region. Both conditions are known to be associated in rare cases. Recently, it was discussed in the literature that RNF213 variants could be etiologically involved in this association. Here, we describe a childhood case with this rare co-occurrence in which we did not identify any rare RNF213 variant. The clinical and genetic backgrounds are discussed.
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