epocrates
Zebra of the Week: Wolman disease
Wolman disease is a rare, autosomal recessive lysosomal storage disorder caused by biallelic pathogenic variants in the LIPA gene, which encodes lysosomal acid lipase (LAL). This enzyme is critical for the hydrolysis of cholesteryl esters and triglycerides within lysosomes. The complete or near-complete deficiency of LAL activity in Wolman disease results in widespread lipid accumulation, particularly in the liver, spleen, adrenal glands, and gastrointestinal tract.
Clinically, the disease presents in early infancy with a constellation of signs and symptoms, including hepatosplenomegaly, failure to thrive, hypotonia, prolonged neonatal jaundice, and malabsorption. A hallmark histopathologic feature is the presence of adrenal calcifications, often detectable on imaging. The disease course is rapidly progressive and typically fatal within the first year of life without intervention.
Source:
(Accessed 2025, July 18). NIH: Genetic and Rare Diseases Information Center. Wolman disease. https://rarediseases.info.nih.gov/diseases/7899/wolman-disease