Abstract
Arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome is a rare, fatal, multisystem disorder. Bleeding problems, which occur spontaneously and post organ biopsies, have been reported in these patients. We report the case of an infant who had life-threatening spontaneous nasal bleeding. A detailed assessment of her platelet function and morphology is presented.
Copyright © 2013 Arab Journal of Gastroenterology. Published by Elsevier Ltd. All rights reserved.
MeSH terms
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Arthrogryposis / blood*
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Arthrogryposis / complications
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Arthrogryposis / physiopathology*
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Bacteremia / microbiology
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Blood Coagulation*
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Blood Platelets / pathology*
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Cholestasis / blood*
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Cholestasis / complications
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Cholestasis / physiopathology*
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Epistaxis / blood*
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Epistaxis / complications
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Escherichia coli Infections / microbiology
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Fatal Outcome
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Female
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Humans
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Infant, Newborn
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Platelet Count
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Pseudomonas Infections / microbiology
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Renal Insufficiency / blood*
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Renal Insufficiency / complications
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Renal Insufficiency / physiopathology*
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Staphylococcal Infections / microbiology
Supplementary concepts
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Arthrogryposis renal dysfunction cholestasis syndrome