Diels A, Fink G R, Faust M, Burghaus L
Klinik und Poliklinik für Neurologie, Universitätsklinik Köln.
Fortschr Neurol Psychiatr. 2012 Apr;80(4):221-6. doi: 10.1055/s-0031-1281793. Epub 2012 Apr 2.
Acute intermittent porphyria is a hereditary disorder resulting from a partial deficiency of the third enzyme in the haeme biosynthetic pathway. Symptoms are due to metabolic effects on the peripheral autonomic and sensomotoric, as well as the central nervous system. We report on the case of a life-threatening acute crisis with tetraplegia and respiratory insufficiency.
急性间歇性卟啉病是一种遗传性疾病,由血红素生物合成途径中第三种酶的部分缺乏引起。症状是由于对周围自主神经和感觉运动以及中枢神经系统的代谢影响所致。我们报告了一例伴有四肢瘫痪和呼吸功能不全的危及生命的急性发作病例。