A Case Report of Wolman Disease
Wolman disease is a rare condition that affects neonates due to an inborn error of lipid metabolism. The disease is usually fatal due to massive accumulation of cholesteryl esters and triglycerides. Radiology plays an important role in the diagnosis of this disease. We present a case of a 1-month-old female who presented with nonspecific clinical symptoms including poor feeding, diarrhea, and weight loss. Imaging revealed characteristic bilateral adrenal enlargement and calcifications with maintenance of adreniform shape suggesting Wolman disease. Bone marrow findings and genetic tests confirmed the diagnosis.