Mildenberger E, Lennert T, Kunze J, Jandeck C, Waldherr R, Versmold H
Department of Paediatrics, Universitätsklinikum Benjamin Franklin, Freie Universität, Berlin, Germany.
Acta Paediatr. 1998 Dec;87(12):1301-3. doi: 10.1080/080352598750031022.
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.
本文报告了一例弥漫性系膜硬化（DMS）合并多种未描述的先天性异常的病例。额外异常的出现，尤其是眼部异常，在DMS中是常见的发现。然而，我们的患者中观察到的巨角膜、丹迪-沃克畸形、轴后多指畸形、摇椅底足以及房间隔缺损，此前均未被报道与DMS相关。该病例可能被认为是加洛韦-莫瓦特综合征的非典型表现。与大多数DMS病例不同的是，该患者出现了宫内蛋白尿，胎盘增大至出生体重的31%。该病例表明，胎盘重量>出生体重的25%，不仅是芬兰型先天性肾病综合征的特征性表现，也可发生于DMS。
