Early-Onset Wolman Disease in an Infant with Novel Compound Heterozygous LIPA Variants.

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.