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Diffuse mesangial sclerosis: association with unreported congenital anomalies and placental enlargement
E Mildenberger1, T Lennert, J Kunze
1Department of Paediatrics, Universitätsklinikum Benjamin Franklin, Freie Universität, Berlin, Germany.
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.
Insights
This study reports a rare case of diffuse mesangial sclerosis (DMS) with previously undocumented congenital anomalies, including ocular and cardiac defects. It highlights that a large placenta is not exclusive to Finnish-type congenital nephrotic syndrome and can occur in DMS.
Area of Science:
- Nephrology
- Genetics
- Developmental Biology
Background:
- Diffuse mesangial sclerosis (DMS) is a rare kidney disease often associated with congenital anomalies.
- Galloway-Mowat syndrome is a differential diagnosis for patients presenting with DMS and multiple congenital anomalies.
Observation:
- A case of DMS is presented with a unique constellation of congenital anomalies, including megalocornea, Dandy-Walker malformation, postaxial hexadactyly, rocker-bottom feet, and atrial septal defect.
- The patient exhibited intrauterine proteinuria and an enlarged placenta (31% of birth weight).
Findings:
- The observed congenital anomalies, particularly the specific combination of ocular, neurological, limb, and cardiac defects, have not been previously reported in association with DMS.
- Intrauterine proteinuria and a significantly enlarged placenta were noted, challenging the exclusivity of these findings to congenital nephrotic syndrome of the Finnish type.
Implications:
- This case expands the spectrum of clinical manifestations for diffuse mesangial sclerosis and suggests it may represent an atypical presentation of Galloway-Mowat syndrome.
- The findings indicate that a large placenta (>25% of birth weight) is not pathognomonic for Finnish-type congenital nephrotic syndrome and can be observed in DMS, aiding in differential diagnosis.