DOI: 10.36347/sjmcr.2023.v11i08.011

Pages: 1464-1466

Wolman disease is an extremely rare hereditary metabolic lipid storage disorder, characterized by a total deficiency of lysosomal acid lipase (LAL), which leads to the accumulation of cholesteryl esters and triglycerides in the lysosomes, resulting in more or less progressive damage to numerous organs, thus presenting the patient with vomiting, diarrhea, and severe malnutrition. With a fatal outcome in the first months of life if untreated. We present the case of a two-month-old infant admitted for abdominal distension; physical examination revealed jaundice, hepatomegaly, and splenomegaly; biological investigations revealed hepatic cytolysis, anemia, and thrombocytopenia. Imaging studies showed bilateral calcifications of the adrenal glands. The diagnosis of Wolman disease was confirmed by measuring the activity of the collapsed lysosomal acid lipase.