Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA was identified on gene sequencing, which confirmed the diagnosis of lysosomal acid lipase deficiency, or Wolman’s disease, an autosomal recessive metabolic condition. Because lysosomal acid lipase is critical for the metabolism of cholesteryl esters and triglycerides, a deficiency leads to lipid accumulation in the liver, spleen, and gut, which causes malabsorption and growth failure, and to calcification of the adrenal glands. #clincial #peds #adrenal #calcifications #infant #NEJM #Wolmans #radiology #xray
