Document Detail

Fetal cerebrohepatorenal (Zellweger) syndrome: dysmorphic, radiologic, biochemical, and pathologic findings in four affected fetuses.
MedLine Citation:
PMID:  3997138     Owner:  NLM     Status:  MEDLINE    
Four fetuses with positive family histories for cerebrohepatorenal (Zellweger) syndrome (CHRS) underwent diagnostic amniocentesis or chorionic villus biopsy. Cultured amniocytes or fibroblasts from all of the fetuses displayed abnormal fatty acid ratios, and the parents elected therapeutic abortions. Dysmorphic features in one fetus consisted of micrognathia, proximal implantation of toes, and bilateral talipes equinovarus. Radiologic examination of the fetus confirmed the dysmorphic features and revealed foci of mineralization in the patellae. Biochemical analysis of three of the fetuses demonstrated markedly increased levels of very-long-chain fatty acids, both saturated and monounsaturated, in liver, kidney, adrenal, and brain. Pathologic findings consisted of premature mineralization of patellae; renal cystic tubular dilations; striated cells in adrenal fetal zone and testicular interstitium; dysplastic alterations of inferior olivary nuclei, dentate nuclei, and cerebral cortex; equivocal increases in portal fibrous tissue; and abnormal cytosomes in fetal zone adrenocortical cells, testicular and renal interstitial cells, and brain macrophages. Iron deposition, probably physiologic, was observed only in liver tissue. Distributions of immunoreactive catalase were identical in the fetuses with CHRS and age-matched control subjects. These findings document the accuracy of the prenatal diagnostic test and provide insights into the morphogenesis and pathogenesis of CHRS.
J M Powers; H W Moser; A B Moser; J K Upshur; B F Bradford; S G Pai; P H Kohn; J Frias; C Tiffany
Related Documents :
3281458 - Prenatal diagnosis of chromosome abnormalities in the presence of fetal structural defe...
2572278 - Perinatal activity of hepatic gamma-glutamyltranspeptidase in rats from large and small...
2405148 - Cervical cystic hygroma in the fetus: clinical spectrum and outcome.
8062028 - Fetal sacrococcygeal teratoma.
20018228 - Behavioral and neurobiological studies on the male progeny of maternal rats exposed to ...
8385408 - The effect of relaxin and ubiquitin on sperm motility.
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Human pathology     Volume:  16     ISSN:  0046-8177     ISO Abbreviation:  Hum. Pathol.     Publication Date:  1985 Jun 
Date Detail:
Created Date:  1985-07-23     Completed Date:  1985-07-23     Revised Date:  2005-11-17    
Medline Journal Info:
Nlm Unique ID:  9421547     Medline TA:  Hum Pathol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  610-20     Citation Subset:  IM    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Adrenal Glands / metabolism,  pathology,  ultrastructure
Brain / pathology,  ultrastructure
Brain Diseases / congenital*,  diagnosis,  pathology
Cholesterol Esters / metabolism
Fatty Acids / metabolism
Fetal Diseases / diagnosis*,  pathology
Kidney / metabolism,  pathology,  ultrastructure
Kidney Diseases / congenital*,  diagnosis,  pathology
Leydig Cells / metabolism,  ultrastructure
Lipid Metabolism
Liver / metabolism,  pathology,  ultrastructure
Liver Diseases / congenital*,  diagnosis,  pathology
Prenatal Diagnosis*
Reg. No./Substance:
0/Cholesterol Esters; 0/Fatty Acids

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

Previous Document:  Keshan disease: an endemic cardiomyopathy in China.
Next Document:  Aggressive angiomyxoma of pelvic soft parts: a clinicopathologic study of nine cases.