Cerebrofacial arteriovenous metameric syndrome with hypopituitarism: a rare association

BMJ Case Rep. 2018 Jan 12:2018:bcr2017222708. doi: 10.1136/bcr-2017-222708.

Abstract

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.

Keywords: interventional radiology; neuroimaging; neurosurgery.

Publication types

  • Case Reports

MeSH terms

  • Cerebellum / blood supply*
  • Cerebellum / diagnostic imaging
  • Cerebral Angiography*
  • Child
  • Conservative Treatment
  • Craniofacial Abnormalities / diagnostic imaging
  • Craniofacial Abnormalities / pathology*
  • Disease Progression
  • Humans
  • Hypopituitarism / congenital
  • Hypopituitarism / diagnostic imaging
  • Hypopituitarism / physiopathology*
  • Hypopituitarism / therapy
  • Intracranial Arteriovenous Malformations / diagnostic imaging
  • Intracranial Arteriovenous Malformations / physiopathology*
  • Intracranial Arteriovenous Malformations / therapy
  • Male