Prenatal Diagnosis of Zellweger Syndrome: Case Report

Authors

  • Bilgin Kütükcü Ministry of Justice Council of Forensic Medicine Department of Biology, Ankara
  • Meral Topçu Department of Pediatric Neurology Hacettepe University Faculty of Medicine, Ankara
  • Sinan Beksaç Department of Obstetrics and Gynecology Hacettepe University Faculty of Medicine, Ankara
  • Ronald J. Wanders Department of Clinical Chemistry, University of Amsterdam, Academic Medical Centre, Laboratory of Genetic Metabolic Diseases, Amsterdam

Keywords:

Zellweger syndrome, DHAPAT, Prenatal diagnosis, Peroxisomal disorders, PEX gene

Abstract

Zellweger syndrome (ZS) (Cerebro-Hepato-Renal syndrome) is a rare autosomal recessive disorder characterized by an absence or marked decrease in peroxisomes, resulting in profound muscular hypotonia and death in the neonatal period. The clinical presentation of ZS is dominated by craniofacial dysmorphic features, neurological abnormalities, hepatomegaly, and chondrodysplasia punctata. Prenatal diagnosis is possible by analysis of dihydroxyacetone-phosphate acyltransferase (DHAPAT) activity, which catalyzes the first step in the biosynthesis of ether-phospholipids, in chorionic villi or amniotic fluid cells. We report the prenatal diagnosis of three pregnancies of a mother who had lost two children previously due to ZS.

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Published

2013-04-30

How to Cite

1.
Kütükcü B, Topçu M, Beksaç S, J. Wanders R. Prenatal Diagnosis of Zellweger Syndrome: Case Report. Gynecol Obstet Reprod Med [Internet]. 2013Apr.30 [cited 2022May26];19(1):31-3. Available from: https://gorm.com.tr/index.php/GORM/article/view/177

Issue

Section

Case Reports

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