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: Matthew J Blitz, Burton Rochelson, Monica Sood, Martin G Bialer, Nidhi Vohra
• Journal: Journal of clinical ultrasound : JCU (J Clin Ultrasound) Vol. 46 Issue 1 Pg. 66-68 (Jan 2018) ISSN: 1097-0096 [Electronic] United States
• PMID: 28374935 (Publication Type: Case Reports)
• Copyright: © 2017 Wiley Periodicals, Inc.

Topics

• Female
• Fetal Diseases (diagnostic imaging)
• Humans
• Pregnancy
• Pregnancy Trimester, Third
• Ultrasonography, Prenatal (methods)
• Wolman Disease (diagnostic imaging)