Ting-Ting Zhu

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,...