| Literature DB >> 8747110 |
H Sano1, A Miyanoshita, N Watanabe, Y Koga, Y Miyazawa, Y Yamaguchi, Y Fukushima, N Itami.
Abstract
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.Entities:
Mesh:
Year: 1995 PMID: 8747110 DOI: 10.1007/bf00868718
Source DB: PubMed Journal: Pediatr Nephrol ISSN: 0931-041X Impact factor: 3.714