An Egyptian child with Wolman disease presenting with hemophagocytic lymphohistiocytosis

An Egyptian child with Wolman disease presenting with hemophagocytic lymphohistiocytosis

Abstract Background Lysosomal acid lipase (LAL) deficiency is hyperinflammatory disease caused by the deficiency of the enzyme which hydrolyzes cholesterol esters and triglycerides; thus, there is pathologic accumulation of cholesterol in various tissues. Wolman disease (WD) and cholesteryl ester st...

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Main Authors: Rabab El Hawary, Safa Meshaal, Alia S. Eldash, Sohilla Lotfy, Dalia Abd Elaziz, Radwa Alkady, Rania Darwish, Aya Erfan, Mai Saad, Engy Chohayeb, Nermeen Galal, Aisha M. Elmarsafy
Format: Article
Language:English
Published: SpringerOpen 2024-12-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Cholesteryl ester storage disease
Egypt
Hemophagocytic lymphohistiocytosis deficiency
LIPA gene
LAL
Wolman disease
Online Access:https://doi.org/10.1186/s43042-024-00629-9
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