Haematological manifestations of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: a case report

Arab J Gastroenterol. 2013 Mar;14(1):26-8. doi: 10.1016/j.ajg.2013.01.001. Epub 2013 Feb 4.

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.

Publication types

  • Case Reports

MeSH terms

  • Arthrogryposis / blood*
  • Arthrogryposis / complications
  • Arthrogryposis / physiopathology*
  • Bacteremia / microbiology
  • Blood Coagulation*
  • Blood Platelets / pathology*
  • Cholestasis / blood*
  • Cholestasis / complications
  • Cholestasis / physiopathology*
  • Epistaxis / blood*
  • Epistaxis / complications
  • Escherichia coli Infections / microbiology
  • Fatal Outcome
  • Female
  • Humans
  • Infant, Newborn
  • Platelet Count
  • Pseudomonas Infections / microbiology
  • Renal Insufficiency / blood*
  • Renal Insufficiency / complications
  • Renal Insufficiency / physiopathology*
  • Staphylococcal Infections / microbiology

Supplementary concepts

  • Arthrogryposis renal dysfunction cholestasis syndrome