Department of Neurology, Chang Gung Memorial Hospital at Linkou and College of Medicine, Chang Gung University, Taiwan, ROC.
Eur Neurol. 2011;66(5):247-52. doi: 10.1159/000330683. Epub 2011 Oct 4.
Acute intermittent porphyria (AIP) is an inherited disorder of heme biosynthesis, the clinical manifestations of which are incompletely understood. In this report, we describe 12 cases of AIP, focusing on the neurological manifestations.
Twelve patients were diagnosed with AIP on the basis of characteristic clinical findings, erythrocyte porphobilinogen deaminase (PBGD) activity, and molecular genetics. Central and peripheral nervous system manifestations were noted, and electrophysiological and radiological studies performed. Potential precipitating factors were recorded.
Eleven PBGD gene mutations were identified in 12 patients. Nine patients experienced neurological symptoms involving the central nervous system (consciousness disturbance, n = 8; convulsion/seizure, n = 4; behavior change, n = 1), while 7 patients experienced peripheral neuropathies (motor paresis, n = 7; impairment of bulbar or respiratory function, n = 4). The electrophysiological and electroencephalographic findings were consistent with the neurological symptoms of AIP. Urinary PBG and δ-aminolevulinic acid levels were elevated in all patients. PBGD enzyme activity levels were below normal in all patients. Eight patients had documented exposure to porphyrogenic agents.
Our detailed description of a relatively large number of cases of AIP may help clinicians to recognize this often difficult-to-diagnose disorder.
急性间歇性卟啉症（AIP）是一种血红素生物合成的遗传性疾病，其临床表现尚未完全了解。在本报告中，我们描述了 12 例 AIP 病例，重点介绍了神经系统表现。
根据特征性临床表现、红细胞卟胆原脱氨酶（PBGD）活性和分子遗传学，对 12 例患者进行 AIP 诊断。记录中枢和周围神经系统表现，并进行电生理学和影像学研究。记录潜在的诱发因素。
在 12 例患者中鉴定出 11 个 PBGD 基因突变。9 例患者出现中枢神经系统受累的神经症状（意识障碍，n=8；抽搐/癫痫发作，n=4；行为改变，n=1），而 7 例患者出现周围神经病（运动无力，n=7；延髓或呼吸功能障碍，n=4）。电生理学和脑电图发现与 AIP 的神经症状一致。所有患者的尿 PBG 和 δ-氨基酮戊酸水平升高。所有患者的 PBGD 酶活性水平均低于正常。8 例患者有明确的卟啉原生成剂暴露史。
我们对大量 AIP 病例的详细描述可能有助于临床医生识别这种常常难以诊断的疾病。
