title: Giant intracranial aneurysm and fibromuscular dysplasia in an adolescent with alpha 1-antitrypsin deficiency.
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.
authors: Department of Neurologic Surgery, Mayo Clinic, Rochester, Minnesota, USA.
authors: W I
authors: WI
authors: Schievink
authors: M R
authors: MR
authors: Puumala
authors: F B
authors: FB
authors: Meyer
authors: C
authors: C
authors: Raffel
authors: J A
authors: JA
authors: Katzmann
authors: J E
authors: JE
authors: Parisi
mesh_terms: D000293:Adolescent; D005260:Female; D005352:Fibromuscular Dysplasia / Q000473:pathology*; D006801:Humans; D002532:Intracranial Aneurysm / Q000473:pathology*; D000515:alpha 1-Antitrypsin / Q000032:analysis; D019896:alpha 1-Antitrypsin Deficiency
chemical_list: D000515:alpha 1-Antitrypsin