Incidental finding of adrenal calcifications leading to the diagnosis of lysosomal acid lipasedeficiency (Wolman disease) in a neonate.

A term newborn delivered by vaginal forceps was assessed on day 2 of life after parents noticed clicking sounds from the chest when handling the baby. Clinical examination showed no signs of distress, but chest X-ray revealed significant bilateral calcification over both kidneys. Further tests on day 3, including abdominal ultrasound, confirmed bilateral adrenal calcifications. Although initial imaging suggested possible congenital infections, particularly cytomegalovirus (CMV), urine testing for CMV was negative. Subsequent blood tests and enzyme assays showed undetectable lysosomal acid lipase activity, confirming the diagnosis of lysosomal acid lipase deficiency by day 12 of life before the onset of typical symptoms of the disease.