Nonsyndromic paucity of interlobular bile ducts: report of 10 patients.
OBJECTIVE
Only a few reports of nonsyndromic paucity of interlobular bile ducts (NS-PILBD) have been published. The authors' aim was to outline the clinical and laboratory profile of patients with NS-PILBD diagnosed at a tertiary referral center.


METHODS
The authors reviewed all the reports of pediatric liver biopsies performed between 1991 and 2000 at their institution. Upon diagnosis of NS-PILBD, patients' records were examined for clinical, laboratory, and histologic data, and liver biopsy specimens were re-evaluated.


RESULTS
Three hundred biopsies were performed in children during the study period, of which 64 were in infants younger than 1 year. NS-PILBD was diagnosed in 10 of 64 (16%) biopsy specimens. Mean age at presentation was 10 days (range, 1 day-6 weeks), and mean follow-up was 4.5 years (range, 1-9 years). An underlying condition was identified in 70% of children with NS-PILBD: namely congenital cytomegalovirus (n = 2), progressive familial intrahepatic cholestasis (PFIC, n = 2), mitochondrial DNA depletion (n = 1), Niemann-Pick type C (n = 1), and arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC syndrome; n = 1). All children presented with jaundice. Four children had initially acholic stools. At their last follow-up visit, failure to thrive was present in five children, and cholestasis in six children. Mortality was noted only in children with metabolic diseases (n = 2).


CONCLUSIONS
In the study, NS-PILBD was common in young children undergoing liver biopsy. Although NS-PILBD is nonspecific, a wide survey for inborn errors of metabolism should be included in the diagnostic work-up of NS-PILBD. In the authors' center, the association of certain metabolic diseases with NS-PILBD carries a grave prognosis.
Pediatric Gastroenterology and Nutrition Unit, Meyer Children's Hospital of Haifa, Israel.
Vered
V
Yehezkely-Schildkraut
Mariana
M
Munichor
Hanna
H
Mandel
Drora
D
Berkowitz
Corina
C
Hartman
Orly
O
Eshach-Adiv
Raanan
R
Shamir
D001176:Arthrogryposis / Q000150:complications; D001652:Bile Ducts / Q000002:abnormalities*; D001706:Biopsy; D002780:Cholestasis, Intrahepatic / Q000150:complications / Q000235:genetics; D003586:Cytomegalovirus Infections / Q000150:complications / Q000151:congenital; D004272:DNA, Mitochondrial / Q000032:analysis; D004200:Diseases in Twins; D005260:Female; D005500:Follow-Up Studies; D006411:Hematopoiesis, Extramedullary; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007565:Jaundice; D007674:Kidney Diseases / Q000150:complications; D008099:Liver / Q000473:pathology; D008297:Male; D009542:Niemann-Pick Diseases / Q000150:complications; D013577:Syndrome
D004272:DNA, Mitochondrial