Schievink W I, Puumala M R, Meyer F B, Raffel C, Katzmann J A, Parisi J E
Department of Neurologic Surgery, Mayo Clinic, Rochester, Minnesota, USA.
J Neurosurg. 1996 Sep;85(3):503-6. doi: 10.3171/jns.1996.85.3.0503.
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.
最近的研究表明，α1-抗胰蛋白酶缺乏可能是颅内动脉瘤和动脉纤维肌发育异常发生的遗传风险因素。作者报告了一名16岁有肺部疾病史的女孩，她因大脑中动脉巨大颅内动脉瘤破裂而发生脑出血。这个梭形动脉瘤与内膜型纤维肌发育异常有关。发现她存在一种不寻常的α1-抗胰蛋白酶缺乏（PiMP表型）。该病例为α1-抗胰蛋白酶缺乏潜在的动脉病变提供了进一步证据。
