The Ivemark syndrome : prenatal diagnosis of an uncommon cystic renal lesion with heterogeneous associations

• Published in: Pediatric nephrology (Berlin, West) Vol. 9; no. 5; pp. 594 - 598
• Main Authors: LARSON, R. S, RUDLOFF, M. A, LIAPIS, H, MANES, J. L, DAVILA, R, KISSANE, J
• Format: Conference Proceeding Journal Article
• Language: English
• Published: Heidelberg Springer 01-10-1995
• Subjects: Abnormalities, Multiple - diagnostic imaging; Biological and medical sciences; Cysts - diagnostic imaging; Cysts - pathology; Fatal Outcome; Female; Gynecology. Andrology. Obstetrics; Humans; Infant, Newborn; Kidney Diseases, Cystic - diagnostic imaging; Kidney Diseases, Cystic - pathology; Liver - abnormalities; Liver - diagnostic imaging; Male; Management. Prenatal diagnosis; Medical sciences; Pancreatic Cyst - diagnostic imaging; Pancreatic Cyst - pathology; Pregnancy; Pregnancy. Fetus. Placenta; Syndrome; Ultrasonography, Prenatal; Sonography; Human; Dysgenesia; Dysplasia; Urinary system disease; Liver; Hepatic disease; Renal disease; Exploration; Histology; Congenital disease; Kidney; Case study; Prenatal; Pathology; Malformation; Autopsy; Echography; Digestive diseases; Fetus; Diagnosis; Pancreas; Pancreatic disease
• ISSN: 0931-041X; 1432-198X
• DOI: 10.1007/BF00860945

Renal dysplasia has been reported in association with a number of anatomical abnormalities, including pancreatic dysgenesis and hepatic anomalies. The combination of renal, hepatic, and pancreatic dysplasia (RHPD), also known as Ivemark syndrome, is rare and uniformly fatal. We report here the gross and histological findings in 4 cases of combined RHPD, 2 of which were detected by prenatal ultrasonography. Evaluation of these 4 and the other 20 reported cases shows that combined RHPD has considerable variability in the histological findings and in organ involvement. In addition, nearly half were associated with anomalies in other organ systems, and 11 of the 24 were familial. In this study, ultrasonographic and histological abnormalities were seen as early as 18.5 weeks gestation in 1 case.