Rare clinical entity Perlman syndrome: is cholestasis a new finding?

Abstract

Perlman syndrome is a rare syndrome characterized by polyhydramnios, fetal overgrowth, facial dysmorphism, visceromegaly, nephroblastomatosis and predisposition to Wilms tumor. Here we report on a newborn with a prenatal history of polyhydramnios who presented with nephromegaly, hypotonia, macrosomia, facial dysmorphism, cholestasis and characteristic ultrasonographic and computed tomographic appearances of renal abnormalities that are observed with Perlman syndrome. Perlman syndrome is a rare entity with a high neonatal mortality rate. This is the first case in which cholestasis has been observed. Close follow-up should be carried out for early detection of Wilms tumor.

• Authors: Gamze Demirel, Serife S Oguz, Istemi H Celik, Nurdan Uras, Omer Erdeve, Ugur Dilmen
• Journal: Congenital anomalies (Congenit Anom (Kyoto)) Vol. 51 Issue 1 Pg. 43-5 (Mar 2011) ISSN: 1741-4520 [Electronic] Australia
• PMID: 20726997 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2011 The Authors. Congenital Anomalies © 2011 Japanese Teratology Society.

Topics

• Abnormalities, Multiple (pathology)
• Adult
• Cholestasis (pathology)
• Female
• Fetal Macrosomia (pathology)
• Humans
• Infant, Newborn
• Kidney (abnormalities, pathology)
• Kidney Neoplasms
• Polyhydramnios (pathology)
• Pregnancy
• Wilms Tumor (diagnosis, pathology)