Wolman's diseaseE75.5
Synonym(s)
Primary familial xanthomatosis involving the adrenal glands; Xanthomatosis primary familial with adrenal involvement
DefinitionThis section has been translated automatically.
Generalized xanthomatosis with intracellular lipid storage without hyperlipoproteinemia.
EtiopathogenesisThis section has been translated automatically.
Autosomal recessive inheritance. Lack of acid lipase with degradation of triglycerides and cholesterol esters.
ManifestationThis section has been translated automatically.
Infancy
Clinical featuresThis section has been translated automatically.
Vomiting, hepatosplenomegaly, icterus, failure to thrive. Radiological calcification of the adrenal glands is detectable.
LaboratoryThis section has been translated automatically.
Reduction or absence of alpha-lipoproteins.
TherapyThis section has been translated automatically.
Causally not possible, symptomatic. Working with the pediatrician. Exitus lethalis usually in the first year of life.
Progression/forecastThis section has been translated automatically.
Death mostly in the 1st year of life.
LiteratureThis section has been translated automatically.
- Alabbas Fet al. (2021) Wolman's disease presenting with secondary hemophagocytic lymphohistiocytosis: a case report from Saudi Arabia and literature review. BMC Pediatr 21:72.
- Aguisanda F et al (2017) Targeting Wolman disease and cholesteryl ester storage disease: disease pathogenesis and therapeutic development. Curr Chem Genome Transl Med 11:1-18.