A Fabry-kór neurológiai szövocombining double acute accentdményei

Ildikó Vastagh, Tamás Constantin, Anna Kéri, Gábor Rudas, György Fekete, Dániel Bereczki

Research output: Article

Abstract

Background - Fabry-disease (FD) is a rare X-linked lysosomal storage disease. Deficiency of alpha-galadosidase A adivity leads to the accumulation of neutral glycosphingolipids, primarily globotriaosylceramide (GL-3) in various tissues, particularly blood vessels, kidneys, myocardium and in ganglions of the peripheral and autonomic nervous system and causes diverse symptoms. The classical phenotype is seen in most males and rarely in females. In women, symptomes start later and the severity is milder. Both peripheral and central nervous system can be both affected. Objectives - Fabry-patiens and gene-carriers in the central region of Hungary are treated in the 2nd Pediatric Department, Semmelweis University. These patients are consulted by an interdisciplinary team. At present, four hemizygous male, four heterozygous female Fabry-patients and three asymptomatic heterozygous gene carriers are followed. Results - After reviewing the neurological complications of FD, we present clinical and neuroimaging data of our patients. Conclusion - We emphasize that neurologists should susped the rare monogenic FD in the case of acroparaesthesia and heat-cold intolerance in childhood or adolescence; clinical signs of TIA/stroke or unexplained MRI alterations suggesting small vessel disease in young adults. Early diagnosis and introdudion of enzyme replacement therapy (ERT) can halt or reverse progression.

Translated title of the contributionNeurological complications of fabry-disease
Original languageHungarian
Pages (from-to)29-35
Number of pages7
JournalIdeggyogyaszati szemle
Volume64
Issue number1-2
Publication statusPublished - jan. 30 2011

Keywords

  • Autonomous neuropathy
  • Dolichoectasia
  • Fabry-disease
  • Stroke of the young
  • Thin fibre neuropathy
  • White matter disease

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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