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Article

Pediatric patients with lysosomal acid lipase deficiency.

Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de Citologia - 1 Jan 2000

Suarez-Zamora David A, Rojas-Rojas Maria M, Ordoñez-Guerrero Felipe, Mugnier-Quijano Jacqueline, Lopez-Panqueva Rocio

Abstract excerpt

Lysosomal acid lipase (LAL) deficiency is a rare, autosomal recessive disease caused by mutations in the LIPA gene, which produces cholesteryl ester and triglyceride accumulation predominantly in hepatocytes, adrenal glands, and gastrointestinal tract. We describe two new cases occurring in siblings, aged 5 and 7 years, who presented with hepatomegaly, dyslipidemia, and abnormal liver function. Percutaneous liver...

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PMID: 37061237
DOI: 10.1016/j.patol.2021.03.005

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