hrp0089p3-p277 | Multisystem Endocrine Disorders P3 | ESPE2018
, Stein Jerry
, Phillip Moshe
, Shalitin Shlomit
Introduction: Wolman Disease [WD] is a rare, autosomal recessive disease caused by lysosomal acid lipase deficiency and characterized by accumulation of cholesterol-esters and triglycerides primarily in the liver and spleen. Patients present within the first year of life with a rapidly progressive disease.Case: A girl born to consanguineous parents was diagnosed with WD due to characteristic manifestations and family history (genetically confirmed). At t...