Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency

Congenital hepatic fibrosis is a rare disorder of intrahepatic bile ducts w ith the persistence of embryological bile duct structures in ductal plate c onfiguration. Three siblings aged 18, 17 and 14 years old were found to hav e congenital hepatic fibrosis associated with a deficiency of the enzyme ph osphomannose isomerase. The clinical symptoms were recurrent attacks of per sistent vomiting with diarrhea and mild hepatomegaly. The biochemical abnor malities included elevated serum transferases during attacks, clotting fact or deficiencies and persistent hypoalbuminemia. In the youngest patient pro tein-losing enteropathy was present. Liver biopsies of the three patients t aken when they were 1, 3 and 14 years old showed an excess of bile duct str uctures in ductal plate configuration with mild fibrosis in the portal tria ds. In one patient the liver biopsy was repeated after 18 years and showed only a mild progression of fibrosis in the portal triads. Duodenal biopsies taken in infancy in two of the three patients did not show any abnormaliti es. Recognition of phosphomannose isomerase deficiency in association with congenital hepatic fibrosis and protein-losing enteropathy is important, be cause some of the clinical symptoms are potentially treatable by oral manno se therapy.