Ten-year enzyme replacement therapy in early childhood-onset lysosomal acid lipase deficiency: A case report

BACKGROUND Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive lipid storage disorder caused by biallelic pathogenic variants in the LIPA gene. The clinical phenotype ranges from the rapidly progressive infantile form (Wolman disease), which usually results in death within the first year of life, to the childhood/adult-onset form, historically known as cholesteryl ester storage disease. Diagnosis of the later-onset form is often delayed owing to nonspecific clinical features,