Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation.

Abstract

We report two brothers with a cystic malformation of the kidneys, liver, and pancreas. In both cases the malformation was fatal and the children died shortly after birth. The pathological findings, consisting of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, dilated pancreatic ducts, and polysplenia, correspond to those reported by Ivemark as renal-hepatic-pancreatic dysplasia. Many polymalformation syndromes include cystic affectation of these three organs, so this syndrome could be an isolated entity or a final common pathway of response of these organs to a variety of developmental disturbances, which could also include splenic abnormalities. We propose an autosomal recessive pattern ofinheritance for renal-hepatic-pancreatic dysplasia.

Two new cases of Cumming syndrome confirming autosomal recessive inheritance

“…Other complex syndromes [Adès et al, 1994] can combine several findings of Cumming syndrome. Thus, Ivemark et al [1959] and others [Bernstein et al, 1987, Neuhaus et al, 1996, Torra et al, 1996 described a combination of renal, pancreatic, and liver dysplasia with autosomal recessive inheritance. Involvement of other organs, and the lack of campomelia and external malformations of Cumming syndrome, can exclude the renal-hepatic-pancreatic dysplasia syndrome.…”

Developmental abnormalities and liver disease in childhood

“…Histopathologically, the latter cases may be difficult to differentiate from extrahepatic biliary obstruction with ascending infection, particularly since there may be an associated tissue cholestasis. The correct diagnosis must be based on the history, clinical findings and • Asplenia with cystic liver, kidney and pancreas, which represents Ivemark syndrome with variants, 549 possibly in the same spectrum as renal-hepatic-pancreatic dysplasia • Ellis-van Creveld syndrome or chondroectodermal dysplasia 550 with polydactyly, short limbs, short ribs, postaxial polydactyly, and dysplastic nails and feet, which has been mapped to chromosome 4p16…”

Anencephaly-associated aganglionosis

“…Both Hirschsprung disease [Mishalany et al, 1982] and neural tube defects [Van Went et al, 1977] have been associated with lateralization disorders. Torra et al, [1996] reported an association between polysplenia and multicystic dysplastic kidneys.…”