Giant intracranial aneurysm and fibromuscular dysplasia in an adolescent with alpha 1-antitrypsin deficiency.
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.
Schievink
W I
WI
Department of Neurologic Surgery, Mayo Clinic, Rochester, Minnesota, USA.
Puumala
M R
MR
Meyer
F B
FB
Raffel
C
C
Katzmann
J A
JA
Parisi
J E
JE
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
D000515:alpha 1-Antitrypsin