European Journal of Pediatrics

, Volume 154, Issue 10, pp 835–839

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

Authors

  • M. Di Rocco
    • Divisione Pediatria IIIstituto “G. Gaslini”
  • F. Callea
    • Servizio Anatomia Patologica Ospedali Riuniti
  • B. Pollice
    • I Anatomia PatologicaPoliclinico Bari
  • M. Faraci
    • Divisione Pediatria IIIstituto “G. Gaslini”
  • F. Campiani
    • Patologia Neonatale Policlinico “S. Matteo”
  • C. Borrone
    • Divisione Pediatria IIIstituto “G. Gaslini”
Medical Genetics Original Paper

DOI: 10.1007/BF01959793

Cite this article as:
Di Rocco, M., Callea, F., Pollice, B. et al. Eur J Pediatr (1995) 154: 835. doi:10.1007/BF01959793

Abstract

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.

Key words

Neurogenic arthrogryposisParenchymal giant cell transformationPigmentary liver diseaseDuctopeniaRenal tubulopathy

Abbreviation

ARC

arthrogryposis, renal dysfunction and cholestasis

Copyright information

© Springer-Verlag 1995