Fetal echogenic bowel in association with Zellweger syndrome

Increased echogenicity of fetal bowel in the second trimester obstetrical ultrasound has been described in association with several pathologic conditions, such as growth restriction, aneuploidy, cystic fibrosis, congenital infections, and gastrointestinal malformations. Zellweger syndrome (ZS) is th...

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Published inThe journal of obstetrics and gynaecology research Vol. 40; no. 6; pp. 1799 - 1802
Main Authors Aydemir, Ozge, Kavurt, Sumru, Esin, Sertaç, Kandemir, Omer, Bas, Ahmet Yagmur, Demirel, Nihal
Format Journal Article
LanguageEnglish
Published Australia 01.06.2014
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Summary:Increased echogenicity of fetal bowel in the second trimester obstetrical ultrasound has been described in association with several pathologic conditions, such as growth restriction, aneuploidy, cystic fibrosis, congenital infections, and gastrointestinal malformations. Zellweger syndrome (ZS) is the prototype of peroxisomal disorders characterized by craniofacial dysmorphism and severe neurologic abnormalities. We report two cases with fetal echogenic bowel (FEB) but no associated anomalies and normal fetal growth. After birth, clinical and laboratory findings led to diagnosis of ZS. Association of FEB with neurometabolic disorders is limited to a few case reports in the medical literature. To the best of our knowledge, this is the first report of ZS associated with FEB.
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ISSN:1341-8076
1447-0756
DOI:10.1111/jog.12379