Fetal cerebrohepatorenal (Zellweger) syndrome: Dysmorphic, radiologic, biochemical, and pathologic findings in four affected fetuses

James M. Powers, Hugo W. Moser, Ann B. Moser, Jane K. Upshur, Barbara F. Bradford, Shashidhar G. Pai, Peter H. Kohn, Jaime Frias, Carol W Tiffany

Research output: Contribution to journalArticle

Abstract

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 agematched control subjects. These findings document the accuracy of the prenatal diagnostic test and provide insights into the morphogenesis and pathogenesis of CHRS.

Original languageEnglish (US)
Pages (from-to)610-620
Number of pages11
JournalHuman Pathology
Volume16
Issue number6
DOIs
StatePublished - 1985
Externally publishedYes

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Zellweger Syndrome
Fetus
Patella
Kidney
Micrognathism
Fatty Acids
Olivary Nucleus
Chorionic Villi Sampling
Therapeutic Abortion
Clubfoot
Cerebellar Nuclei
Monounsaturated Fatty Acids
Amniocentesis
Leydig Cells
Liver
Brain
Toes
Morphogenesis
Routine Diagnostic Tests
Cerebral Cortex

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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Fetal cerebrohepatorenal (Zellweger) syndrome : Dysmorphic, radiologic, biochemical, and pathologic findings in four affected fetuses. / Powers, James M.; Moser, Hugo W.; Moser, Ann B.; Upshur, Jane K.; Bradford, Barbara F.; Pai, Shashidhar G.; Kohn, Peter H.; Frias, Jaime; Tiffany, Carol W.

In: Human Pathology, Vol. 16, No. 6, 1985, p. 610-620.

Research output: Contribution to journalArticle

Powers, James M. ; Moser, Hugo W. ; Moser, Ann B. ; Upshur, Jane K. ; Bradford, Barbara F. ; Pai, Shashidhar G. ; Kohn, Peter H. ; Frias, Jaime ; Tiffany, Carol W. / Fetal cerebrohepatorenal (Zellweger) syndrome : Dysmorphic, radiologic, biochemical, and pathologic findings in four affected fetuses. In: Human Pathology. 1985 ; Vol. 16, No. 6. pp. 610-620.
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abstract = "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 agematched control subjects. These findings document the accuracy of the prenatal diagnostic test and provide insights into the morphogenesis and pathogenesis of CHRS.",
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