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

Abstract excerpt

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...

Topics

• Humans
• Female
• Heterozygote
• Infant
• Wolman Disease
• Sterol Esterase
• Frameshift Mutation