Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families

Eur J Pediatr. 1995 Oct;154(10):835-9. doi: 10.1007/BF01959793.


We report on five patients from three families with neurogenic arthrogryposis, cholestasis and tubular renal dysfunction. Despite a similar clinical picture the liver histology showed a broad pathological spectrum, ranging from pigment storage to parenchymal giant cell transformation and ductopenia. The findings are compared with those of other cases from the literature in search of a correct nosology of the syndrome characterized by arthrogryposis, renal and liver disease. CONCLUSION. We propose to consider the picture of arthrogryposis, renal tubular dysfunction and cholestasis as a single syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Acidosis, Renal Tubular / genetics*
  • Acidosis, Renal Tubular / pathology
  • Arthrogryposis / genetics*
  • Arthrogryposis / pathology
  • Biopsy, Needle
  • Cholestasis, Intrahepatic / genetics*
  • Cholestasis, Intrahepatic / pathology
  • Consanguinity
  • Female
  • Humans
  • Inclusion Bodies / pathology
  • Infant
  • Infant, Newborn
  • Kidney Tubules / pathology
  • Lipofuscin / metabolism
  • Liver / pathology
  • Male
  • Portal Vein / abnormalities
  • Portal Vein / pathology


  • Lipofuscin