Document Detail


Fabry disease simulating Crohn's ileitis.
MedLine Citation:
PMID:  24778057     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
Fabry disease is an inherited (X-linked) lysosomal storage disorder caused by deficiency of α-galactosidase A, leading to accumulation of globotriaosylceramide in various tissues. A 57-year-old male with a family history and laboratory findings of Fabry disease, was consulted for severe abdominal pain, undulating pyrexia, weight loss and diarrhea. The tentative clinical diagnosis of Crohn's ileitis was supported at computed tomographic examination, at laparotomy and at inspection of the resected ileal segment. Histology revealed chronic and acute inflammation, thick-walled occluded vessels, fibrosis and characteristic bi-refringent lamellar deposits of globotriaosylceramide and calcifications. Multi-nucleated giant cells contained phagocytized bi-refringent material. Transmission electron microscopy showed cells with irregular cytoplasmic bodies displaying distinctive zebra-like lamellar structures. It is submitted that the gastrointestinal phenotype of Fabry disease may concur with symptoms resembling abdominal Crohn's disease.
Authors:
Carlos A Rubio; Elizabeth Villnow; Birgitta Sundelin; Elina Eriksson; Karoli Dolapcsiev; Jan Björk; Ragnar Befrits; Magnus Tengvar; Henrik Iversen
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Anticancer research     Volume:  34     ISSN:  1791-7530     ISO Abbreviation:  Anticancer Res.     Publication Date:  2014 May 
Date Detail:
Created Date:  2014-04-29     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8102988     Medline TA:  Anticancer Res     Country:  Greece    
Other Details:
Languages:  eng     Pagination:  2437-41     Citation Subset:  IM    
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