Giant intracranial aneurysm and fibromuscular dysplasia in an adolescent with alpha 1-antitrypsin deficiency

J Neurosurg. 1996 Sep;85(3):503-6. doi: 10.3171/jns.1996.85.3.0503.

Abstract

Recent studies have suggested that a deficiency of alpha 1-antitrypsin may be a genetic risk factor for the development of intracranial aneurysms and arterial fibromuscular dysplasia. The authors report a 16-year-old girl with a history of lung disease who suffered a cerebral hemorrhage due to the rupture of a giant intracranial aneurysm arising from the middle cerebral artery. This fusiform aneurysm was associated with fibromuscular dysplasia of the intimal type. She was found to have an unusual alpha 1-antitrypsin deficiency (PiMP phenotype). This case provides further evidence of an underlying arteriopathy in alpha 1-antitrypsin deficiency.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Female
  • Fibromuscular Dysplasia / pathology*
  • Humans
  • Intracranial Aneurysm / pathology*
  • alpha 1-Antitrypsin / analysis
  • alpha 1-Antitrypsin Deficiency*

Substances

  • alpha 1-Antitrypsin