Preliminary communication

Neurological Manifestation of Fabry Disease – A Case Report

Vida Demarin ; Department of Neurology, University Hospital »Sestre milosrdnice«, Zagreb, Croatia
Vanja Bašić Kes ; Department of Neurology, University Hospital »Sestre milosrdnice«, Zagreb, Croatia
Milan Bitunjac ; Department of Neurology, General Hospital Slavonski Brod, Slavonski Brod, Croatia
Mira Ivanković ; Department of Neurology, General Hospital Dubrovnik, Dubrovnik, Croatia

Abstract

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.

Keywords

Fabry disease; x-linked; recessive; strike; genetic; Croatia

Hrčak ID:

51703

URI

https://hrcak.srce.hr/51703

Publication date:

20.12.2009.

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