Renal dysplasia and asplenia in two sibs

Abstract

A family is reported in which two sibs, one male and the other female, both died within 24 hours of birth with enlarged plycystic kidneys. Postmortem histology in the second child showed gross renal dysplasia. In both children the pancreas was enlarged, nodular and cystic but the liver appeared macroscopically normal. In the second child, histological examination confirmed pancreatic fibrosis with cystic dilation of ducts, but showed portal fibrosis with bile duct proliferation in the liver.This combination of findings is very reminiscent of those in a girl and her brother reported by Ivemark et al. (1959). The children reported here also showed absence or hypoplasia of the spleen, cardiac anomalies and other features of the Ivemark syndrome (Ivemark 1955), a quite different, usually sporadic, congenital disorder. It is suggested that the children described here have a distinct lethal congenital disorder, probably inherited in an autosomal recessive manner.

Failure to Thrive, Jaundice, and Polyuria in Early Infancy: Common Presentation with an Uncommon Lethal Etiology

“…High fetal and neonatal mortality and morbidity have been reported in previous reports (►Table 1). [4][5][6][7][8][9][10] Apart from the renal-hepatic-pancreatic triad, other associated morbidities reported are insulin-dependent diabetes, situs inversus, polydactyly, tapetoretinal degeneration, brain cysts, and anencephaly. [13][14][15][16] Nervous system abnormalities are more common in Meckel-Gruber's syndrome 7 and nephronophthisis presentations.…”

Renal‐hepatic‐pancreatic dysplasia: A sibship with skeletal and central nervous system anomalies and NPHP3 mutation

“…An early report of RPHD described a brother and sister who both died within 24 hr of birth with enlarged polycystic kidneys [Crawfurd, ]. Both children had cystic renal dysplasia.…”

Pathology of Pediatric Gastrointestinal and Liver Disease

“…The other syndrome is characterized by diffuse renal cystic dysplasia, hepatic fi brosis with biliary dysgenesis, and pancreatic fi brosis with dilated ducts (Ivemark et al 1959 ) (Fig. Asplenia is not a constant feature in the latter (Crawfurd 1978 ), and polysplenia has also been described (Torra et al 1996 ). Asplenia is not a constant feature in the latter (Crawfurd 1978 ), and polysplenia has also been described (Torra et al 1996 ).…”