Concurrent course of transient neonatal diabetes with cholestasis and paucity of interlobular bile ducts: a case report.
We report for the first time a patient with both transient neonatal diabetes mellitus (TNDM) and idiopathic neonatal cholestasis, with both features resolving over a similar time course. Cholestasis was due to paucity of interlobular bile ducts (PILBD). Genetic analysis was consistent with a uniparental disomy of chromosome 6. Paucity of interlobular bile ducts is common in Alagille syndrome but also occurs by unknown mechanisms in a wide spectrum of other diseases. We propose a shared explanation for this patient's TNDM and PILBD mediated by the noted chromosomal abnormality. We suggest that hepatobiliary function be evaluated in patients with TNDM to determine the prevalence and course of cholestasis of the disease.
Kenny
Alan P
AP
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229-3039, USA. Alan.Kenny@cchmc.org
Crimmins
Nancy A
NA
Mackay
Deborah J G
DJ
Hopkin
Robert J
RJ
Bove
Kevin E
KE
Leonis
Mike A
MA
D001653:Bile Ducts, Intrahepatic / Q000473:pathology*; D002779:Cholestasis / Q000150:complications / Q000151:congenital* / Q000235:genetics; D002896:Chromosomes, Human, Pair 6; D003920:Diabetes Mellitus / Q000151:congenital* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases; D008297:Male; D012075:Remission, Spontaneous