GIANT INTRACRANIAL ANEURYSM AND FIBROMUSCULAR DYSPLASIA IN AN ADOLESCENT WITH ALPHA(1)-ANTITRYPSIN DEFICIENCY

Recent studies have suggested that a deficiency of alpha(1)-antitrypsi n may be a genetic risk factor for the development of intracranial ane urysms and arterial fibromuscular dysplasia. The authors report a 16-y ear-old girl with a history of lung disease who suffered a cerebral he morrhage due to the rupture of a giant intracranial aneurysm arising f rom the middle cerebral artery. This fusiform aneurysm was associated with fibromuscular dysplasia of the intimal type. She was found to hav e an unusual alpha(1)-antitrypsin deficiency (PiMP phenotype). This ca se provides further evidence of an underlying arteriopathy in alpha(1) -antitrypsin deficiency.