Giant intracranial aneurysm and fibromuscular dysplasia in an adolescent with α1-antitrypsin deficiency

Case report

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  • 1 Departments of Neurologic Surgery and Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota
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✓ Recent studies have suggested that a deficiency of α1-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 α1-antitrypsin deficiency (PiMP phenotype). This case provides further evidence of an underlying arteriopathy in α1-antitrypsin deficiency.

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