Clinical Neuroscience

[Neurological complications of Fabry-disease]

VASTAGH Ildikó, CONSTANTIN Tamás, KÉRI Anna, RUDAS Gábor, FEKETE György, BERECZKI Dániel

JANUARY 30, 2011

Clinical Neuroscience - 2011;64(01-02)

[Background - Fabry-disease (FD) is a rare X-linked lysosomal storage disease. Deficiency of alpha-galactosidase A activity 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 suspect 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 introduction of enzyme replacement therapy (ERT) can halt or reverse progression.]

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Clinical Neuroscience

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Clinical Neuroscience

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Clinical Neuroscience

[EEG investigations in cognitive impairments]

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Clinical Neuroscience

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Clinical Neuroscience

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Clinical Neuroscience

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Clinical Neuroscience

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Clinical Neuroscience

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