文章基本信息

标题：Neurological Manifestation of Fabry Disease – A Case Report
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作者：Demarin, Vida ; Bašić Kes, Vanja ; Bitunjac, Milan 等
期刊名称：Collegium Antropologicum
印刷版ISSN：0350-6134
出版年度：2009
卷号：33 supplement 2
期号：2
页码：177-179
出版社：Hrvatsko antropološko društvo
摘要：Fabry disease is an X-linked recessive glycolipid storage disease. It is caused by deficiency of the lysosomal enzyme a-galactosidase A and leads to the accumulation of the enzyme substrate, globotriasylceramide (Gb3) in many tissues including endothelial cells, pericytes and smooth muscle cells of blood vessels, renal epithelial cells, cardiac myocytes and numerous neuronal cells. In this report, we present 20-year-old male patient with ischemic stroke in pons. The case had previously been misdiagnosed as polimyositis and vasculitis. Angiokeratomas, neuropathic pain and ischemic stroke in young age suggested a Fabry disease. The diagnosis was confirmed biochemically and genetically. All young adults with stroke, especially if they have additional symptoms like angiokeratomas, proteinuria, neuropathic pain in toes and fingers should be tested for Fabry disease.
关键词：Fabry disease; x-linked; recessive; strike; genetic; Croatia