Prenatal bilateral adrenal calcifications, hypogonadism, and nephrotic syndrome: beyond Wolman disease. (27th April 2014)

• Record Type: Journal Article
• Authors: Schreyer‐Shafir, Nira; Sukenik‐Halevy, Rivka; Tepper, Ronnie; Arnon, Schmuel; Litmanovitch, Itta; Eliakim, Alon; Pommeranz, Avishalom; Ludman, Mark David; Raas‐Rothschild, Annick
• Is Part Of: Prenatal diagnosis. Volume 34:Number 6(2014:Jun.)
• Page Start: 608
• Page End: 611
• Publication Date: 2014-04-27
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.4344
• Languages: English
• ISSNs: 0197-3851

Abstract

<abstract abstract-type="short"> <title> <x xml:space="preserve">Abstract</x> </title> <p> <bold>What's already known about this topic?</bold> <list id="pd4344-list-0001" list-type="bullet"> <list-item id="pd4344-li-0001"> <p>Prenatal bilateral adrenal calcifications are a rare prenatal finding.</p> </list-item> <list-item id="pd4344-li-0002"> <p>Adrenal calcifications may be seen with intrauterine infections, tumor, or in Wolman disease. Risk factors for adrenal calcifications include large birth weight, hypoxia, septicemia, coagulation defects, and thromboembolism.</p> </list-item> <list-item id="pd4344-li-0003"> <p>The association of adrenal calcifications and proteinuria has been published in two reports of four different patients.</p> </list-item> </list> </p> <p> <bold>What does this study add?</bold> <list id="pd4344-list-0002" list-type="bullet"> <list-item id="pd4344-li-0004"> <p>We propose that the constellation of bilateral adrenal calcifications, micropenis, testicular dysfunction, increased fetal nuchal translucency, and congenital nephrotic syndrome represents a new clinical entity.</p> </list-item> <list-item id="pd4344-li-0005"> <p>The consanguinity in this family suggests an autosomal recessive inheritance of this disease.</p> </list-item> <list-item id="pd4344-li-0006"> <p>This entity should be considered in the differential diagnosis of bilateral adrenal calcifications.</p> </list-item> </list> </p> </abstract>