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Prenatal sonographic findings in a case of Wolman's disease
Author(s) -
Blitz Matthew J.,
Rochelson Burton,
Sood Monica,
Bialer Martin G.,
Vohra Nidhi
Publication year - 2018
Publication title -
journal of clinical ultrasound
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.272
H-Index - 61
eISSN - 1097-0096
pISSN - 0091-2751
DOI - 10.1002/jcu.22481
Subject(s) - medicine , echogenicity , fetus , prenatal diagnosis , mutation , pathology , ultrasonography , gene , pregnancy , radiology , genetics , biology
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;