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CASE REPORT
Cerebrofacial arteriovenous metameric syndrome with hypopituitarism: a rare association
  1. Justin Christopher Ng,
  2. Chinthaka Appuhamy,
  3. Wickly Lee
  1. Department of Neuroradiology, National Neuroscience Institute, Singapore
  1. Correspondence to Dr Justin Christopher Ng, justinchristopher.ng{at}mohh.com.sg

Summary

Case of cerebrofacial arteriovenous metameric syndrome (CAMS) in a 9-year-old boy is described with arteriovenous malformation simultaneously involving the brain and face, with characteristic CAMS type 1 and 2 involvement. This patient demonstrates the wide spectrum of clinical manifestations of CAMS, and in this particular case, the patient exhibits features of hypopituitarism—an association that was not previously described in the literature to our knowledge. Awareness of the underlying embryological abnormality and recognition of resultant clinical and radiological presentations are paramount for diagnosis and treatment.

  • neuroimaging
  • neurosurgery
  • interventional radiology

This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/

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Footnotes

  • Contributors JCN did the background research, discussed the patient’s clinical history and progress with the patient’s family, as well as wrote the bulk of the case report. CA and WL performed the four-vessel cerebral angiogram for the patient and followed up the patient in clinic.

  • Competing interests None declared.

  • Patient consent Guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.