Sano H, Miyanoshita A, Watanabe N, Koga Y, Miyazawa Y, Yamaguchi Y, Fukushima Y, Itami N
Department of Pediatrics, Nikko Memorial Hospital, Muroran, Japan.
Pediatr Nephrol. 1995 Dec;9(6):711-4. doi: 10.1007/BF00868718.
We report a 2-year-old girl with nephrotic syndrome, microcephaly, seizures and psychomotor retardation. Histological studies of a renal biopsy revealed focal glomerular sclerosis with mesangiolysis and capillary microaneurysms. Dysmorphic features were remarkable: abnormal-shaped skull, coarse hair, narrow forehead, large low-set ears, almond-shaped eyes, low nasal bridge, pinched nose, thin lips and micrognathia. Cases with this rare combination of microcephaly and early onset of nephrotic syndrome with various neurological abnormalities have been reported. However, clinical manifestations and histological findings showed a wide variation, and there is a lot of confusion in this syndrome. We therefore reviewed the previous reports and propose a new classification of this syndrome.
我们报告一名患有肾病综合征、小头畸形、癫痫发作和精神运动发育迟缓的2岁女童。肾活检的组织学研究显示局灶性肾小球硬化伴系膜溶解和毛细血管微动脉瘤。畸形特征显著：颅骨形状异常、毛发粗糙、前额狭窄、耳朵大且低位、杏仁状眼睛、鼻梁低、鼻子尖、嘴唇薄和小颌畸形。此前已有小头畸形与肾病综合征早期发作并伴有各种神经异常这种罕见组合的病例报道。然而，临床表现和组织学发现存在很大差异，且该综合征存在很多混淆之处。因此，我们回顾了既往报告并提出了该综合征的新分类。
