title: Prenatal sonographic findings in a case of Wolman's disease.
abstract: No published case of Wolman's disease has described the prenatal sonographic findings. We present a case in which a third-trimester sonographic examination demonstrated fetal hepatomegaly and bilateral adrenal echogenicity suggestive of diffuse calcification. Wolman's disease, also known as lysosomal acid lipase (LIPA) deficiency, is a rare autosomal-recessive disorder characterized by complete absence of the LIPA enzyme. The diagnosis of Wolman's disease was made postnatally by biochemical testing, which indicated absence of LIPA enzyme activity and gene sequencing, which confirmed homozygosity for the G66V mutation within the LIPA gene. © 2017 Wiley Periodicals, Inc. J Clin Ultrasound 46:66-68, 2018.
authors.affiliation: Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Hofstra Northwell School of Medicine, North Shore University Hospital, Manhasset, NY.
authors.forename: Matthew J
authors.identifier: http://orcid.org/0000-0002-5534-6928
authors.initials: MJ
authors.lastname: Blitz
authors.affiliation: Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Hofstra Northwell School of Medicine, North Shore University Hospital, Manhasset, NY.
authors.forename: Burton
authors.initials: B
authors.lastname: Rochelson
authors.affiliation: Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Kaiser Permanente, Walnut Creek Medical Center, Walnut, CA.
authors.forename: Monica
authors.initials: M
authors.lastname: Sood
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Hofstra Northwell School of Medicine, Cohen Children's Medical Center of New York, New Hyde Park, NY.
authors.forename: Martin G
authors.initials: MG
authors.lastname: Bialer
authors.affiliation: Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Hofstra Northwell School of Medicine, North Shore University Hospital, Manhasset, NY.
authors.forename: Nidhi
authors.initials: N
authors.lastname: Vohra
mesh_terms: D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D016216:Ultrasonography, Prenatal / Q000379:methods*; D015223:Wolman Disease / Q000000981:diagnostic imaging*
keywords: Wolman's disease; adrenal glands; lysosomal acid lipase deficiency; obstetrics; ultrasound