title: Fetal echogenic bowel in association with Zellweger syndrome.
abstract: 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.
authors.affiliation: Department of Neonatology, Etlik Zübeyde Hanım Women's Health Teaching and Research Hospital, Ankara, Turkey.
authors.forename: Ozge
authors.initials: O
authors.lastname: Aydemir
authors.forename: Sumru
authors.initials: S
authors.lastname: Kavurt
authors.forename: Sertaç
authors.initials: S
authors.lastname: Esin
authors.forename: Omer
authors.initials: O
authors.lastname: Kandemir
authors.forename: Ahmet Yagmur
authors.initials: AY
authors.lastname: Bas
authors.forename: Nihal
authors.initials: N
authors.lastname: Demirel
mesh_terms: D000328:Adult; D058535:Echogenic Bowel / Q000209:etiology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D016216:Ultrasonography, Prenatal; D015211:Zellweger Syndrome / Q000150:complications* / Q000000981:diagnostic imaging
keywords: Zellweger syndrome; fetal echogenic bowel; neurometabolic disease; peroxisomal disorders; prenatal ultrasonography