Prenatal sonographic findings in a case of Wolman's disease. Issue 1 (4th April 2017)

• Record Type: Journal Article
• Authors: Blitz, Matthew J.; Rochelson, Burton; Sood, Monica; Bialer, Martin G.; Vohra, Nidhi
• Is Part Of: Journal of clinical ultrasound. Volume 46:Issue 1(2018)
• Page Start: 66
• Page End: 68
• Publication Date: 2017-04-04
• Subjects: Wolman's disease -- lysosomal acid lipase deficiency -- adrenal glands -- ultrasound -- obstetrics; Ultrasonics in medicine -- Periodicals; 616.07543
• DOI: 10.1002/jcu.22481
• Languages: English
• ISSNs: 0091-2751

Abstract

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;