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


CONCLUSIONS
This observation extends the picture of Alagille syndrome and suggests an overlap with renal-hepatic-pancreatic dysplasia (Ivemark syndrome).
Devriendt
K
K
Department of Paediatrics, University Hospital Leuven, Belgium.
Dooms
L
L
Proesmans
W
W
de Zegher
F
F
Desmet
V
V
Eggermont
E
E
D016738:Alagille Syndrome / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D001706:Biopsy; D002675:Child, Preschool; D003922:Diabetes Mellitus, Type 1 / Q000150:complications* / Q000473:pathology; D006801:Humans; D008099:Liver / Q000473:pathology; D008297:Male; D010179:Pancreas / Q000473:pathology