Diffuse mesangial sclerosis: association with unreported congenital anomalies and placental enlargement.
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.
Mildenberger
E
E
Department of Paediatrics, Universitätsklinikum Benjamin Franklin, Freie Universität, Berlin, Germany.
Lennert
T
T
Kunze
J
J
Jandeck
C
C
Waldherr
R
R
Versmold
H
H
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*