European Journal of Pediatrics

, Volume 155, Issue 2, pp 87–90

Paucity of intrahepatic bile ducts, solitary kidney and atrophic pancreas with diabetes mellitus: Atypical Alagille syndrome?

Authors

  • K. Devriendt
    • Department of PaediatricsUniversity Hospital Leuven
  • L. Dooms
    • Department of PaediatricsUniversity Hospital Leuven
  • W. Proesmans
    • Department of PaediatricsUniversity Hospital Leuven
  • F. de Zegher
    • Department of PaediatricsUniversity Hospital Leuven
  • E. Eggermont
    • Department of PaediatricsUniversity Hospital Leuven
  • V. Desmet
    • Department of PathologyUniversity Hospital Leuven
    • Centre for Human GeneticsUniversity Hospital Gasthuisberg
Gastroenterology/Hepatology

DOI: 10.1007/BF02075756

Cite this article as:
Devriendt, K., Dooms, L., Proesmans, W. et al. Eur J Pediatr (1996) 155: 87. doi:10.1007/BF02075756

Abstract

Abstract

A child with the tentative diagnosis of Alagille syndrome is reported. Additional renal abnormalities are unilateral kidney agenesis and a kidney with subcortical cysts with decreased function. At the age of 5 years, insulin-dependent diabetes mellitus developed, with the pancreas being atrophic and negative pancreatic islet cell antibodies.

Conclusion

This observation extends the picture of Alagille syndrome and suggests an overlap with renal-hepatic-pancreatic dysplasia (Iyemark syndrome).

Key words

Alagille syndromeDiabetes mellitusIvemark syndromePancreas

Abbreviations

GFR

glomerular filtration rate

IDDM

insulin dependent diabetes mellitus

RHPD

renal hepatic pancreatic dysplasia

Copyright information

© Springer-Verlag 1996