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Moyamoya angiopathy in PHACE syndrome not associated with RNF213 variants

Child's Nervous System volume 35, pages 1231–1237 (2019)Cite this article

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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Acknowledgements

The authors thank the patient for participating. We especially thank Elisabeth Tournier-Lasserve, MD, Paris, for important help and fruitful discussions.

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Affiliations

  1. Department of Neurology, Alfried Krupp von Bohlen und Halbach Hospital, Alfried-Krupp-Str. 21, 45117, Essen, Germany

    Jeffrie Hadisurya, Jan Claudius Schwitalla & Markus Kraemer

  2. INSERM UMR-S1161, Génétique et physiopathologie des maladies cérébro-vasculaires, Université Paris Diderot, Sorbonne Paris Cité, Paris, France

    Stephanie Guey & Lou Grangeon

  3. Institute of Human Genetics, University Clinic of Duesseldorf, Heinrich-Heine University of Duesseldorf, Duesseldorf, Germany

    Dagmar Wieczorek

  4. AP-HP, Service de Génétique Neurovasculaire, Hôpital Lariboisière, Paris, France

    Michaelle Corpechot

  5. Department of Neurology, Medical Faculty, Heinrich Heine University of Duesseldorf, Moorenstrasse 5, 40225, Duesseldorf, Germany

    Markus Kraemer

Authors
  1. Jeffrie Hadisurya
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  2. Stephanie Guey
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  6. Jan Claudius Schwitalla
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Corresponding author

Correspondence to Markus Kraemer.

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The study was approved by the Ethics Committee of the University of Duisburg-Essen. The participant gave her written informed consent in order to publish the results and use her photos for publication.

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Hadisurya, J., Guey, S., Grangeon, L. et al. Moyamoya angiopathy in PHACE syndrome not associated with RNF213 variants. Childs Nerv Syst 35, 1231–1237 (2019). https://doi.org/10.1007/s00381-019-04145-9

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  • DOI: https://doi.org/10.1007/s00381-019-04145-9

Keywords

  • PHACE
  • Moyamoya angiopathy
  • Rare RNF 213 variants