Abstract

Background: Wolman disease is a rare autosomal recessive lysosomal storage disorder caused by lysosomal acid lipase deficiency, with fewer than 150 cases reported. It often presents in infancy with hepatosplenomegaly and adrenal calcification.
Methods: We report a 2-month-old female with abdominal distension, vomiting, hepatosplenomegaly, and bilateral adrenal calcification.
Results: Laboratory findings showed anemia, thrombocytopenia, hypoalbuminemia, and elevated liver enzymes. Genetic testing revealed novel compound heterozygous LIPA variants: a paternal frameshift (c.731_732del, p.Gly244Aspfs*24) and a maternal missense (c.605C>G, p.Pro202Arg).
Conclusions: This case expands the LIPA variant spectrum and emphasizes the importance of combining clinical data for early diagnosis and counseling.

DOI: 10.7754/Clin.Lab.2025.250940