Abstract
Fabry disease is a rare, X-linked inborn error of glycosphingolipid metabolism caused by a deficiency of the lysosomal enzyme α-galactosidase A. Progressive deposition of GL-3 starts early in life, presumably as early as in fetal life. Chronic burning or provoked attacks of excruciating pain in hands and feet in Fabry disease are common in most children as well as GI-symptoms.
We describe a case of pediatric Fabry disease with gastrointestinal dysmotility symptoms as primary and most severe complaints. Colonic pseudoobstruction and necrosis developed by the age of 15 years. We hypothesize that this patient developed a gastrointestinal phenotype of pediatric Fabry disease that has not been described before.
Competing interests: None declared.
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The authors acknowledge Dr. Hans Ebels for his help in manuscript revision.
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Communicated by: Olaf Bodamer.
Synopsis
Synopsis
The study presents a case of Fabry disease with predominant severe gastrointestinal symptoms, pseudoobstruction syndrome, and cachexia, which suggests gastrointestinal phenotype of Fabry disease.
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© 2011 SSIEM and Springer-Verlag Berlin Heidelberg
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Buda, P. et al. (2011). Gastrointestinal Phenotype of Fabry Disease in a Patient with Pseudoobstruction Syndrome. In: JIMD Reports - Case and Research Reports, 2012/1. JIMD Reports, vol 4. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2011_63
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DOI: https://doi.org/10.1007/8904_2011_63
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