title: Diffuse mesangial sclerosis: association with unreported congenital anomalies and placental enlargement.
abstract: A case of diffuse mesangial sclerosis (DMS) associated with a number of undescribed congenital anomalies is reported. The occurrence of additional anomalies, especially ocular anomalies, is a common finding in DMS. However, neither megalocornea, Dandy-Walker malformation, postaxial hexadactyly, rocker-bottom feet, nor atrial septal defect, as observed in our patient, has been reported previously in association with DMS. This case might be considered an atypical manifestation of the Galloway-Mowat syndrome. In contrast to most cases of DMS, the patient revealed intrauterine proteinuria as the placenta was enlarged to 31% of birth weight. This case demonstrates that the large placenta, >25% of birth weight, is not only pathognomonic of the congenital nephrotic syndrome of the Finnish type but can also occur in DMS.
authors.affiliation: Department of Paediatrics, Universitätsklinikum Benjamin Franklin, Freie Universität, Berlin, Germany.
authors.forename: E
authors.initials: E
authors.lastname: Mildenberger
authors.forename: T
authors.initials: T
authors.lastname: Lennert
authors.forename: J
authors.initials: J
authors.lastname: Kunze
authors.forename: C
authors.initials: C
authors.lastname: Jandeck
authors.forename: R
authors.initials: R
authors.lastname: Waldherr
authors.forename: H
authors.initials: H
authors.lastname: Versmold
mesh_terms: D000015:Abnormalities, Multiple; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009404:Nephrotic Syndrome / Q000150:complications* / Q000151:congenital / Q000175:diagnosis / Q000473:pathology; D010920:Placenta / Q000473:pathology*