Prenatal bilateral adrenal calcifications, hypogonadism, and nephrotic syndrome: Beyond Wolman disease

What's already known about this topic? Prenatal bilateral adrenal calcifications are a rare prenatal finding. 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. The association of adrenal calcifications and proteinuria has been published in two reports of four different patients. What does this study add? 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. The consanguinity in this family suggests an autosomal recessive inheritance of this disease. This entity should be considered in the differential diagnosis of bilateral adrenal calcifications.