Document Detail


Microcephaly and early-onset nephrotic syndrome--confusion in Galloway-Mowat syndrome.
MedLine Citation:
PMID:  8747110     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
H Sano; A Miyanoshita; N Watanabe; Y Koga; Y Miyazawa; Y Yamaguchi; Y Fukushima; N Itami
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric nephrology (Berlin, Germany)     Volume:  9     ISSN:  0931-041X     ISO Abbreviation:  Pediatr. Nephrol.     Publication Date:  1995 Dec 
Date Detail:
Created Date:  1996-10-09     Completed Date:  1996-10-09     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8708728     Medline TA:  Pediatr Nephrol     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  711-4     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Nikko Memorial Hospital, Muroran, Japan.
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MeSH Terms
Descriptor/Qualifier:
Child, Preschool
Diagnosis, Differential
Face / abnormalities
Female
Glomerulosclerosis, Focal Segmental / diagnosis,  pathology
Humans
Kidney / pathology
Mental Retardation / diagnosis*
Microcephaly / diagnosis*
Nephrotic Syndrome / diagnosis*,  pathology
Pedigree
Seizures / diagnosis*
Syndrome

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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