Cholesteryl Ester Storage Disease: Case Report during Childhood-Reference-Cited by-同舟云学术

Cholesteryl Ester Storage Disease: Case Report during Childhood

Published:1999-11 Issue:6 Volume:2 Page:574-576
ISSN:1093-5266
Container-title:Pediatric and Developmental Pathology
language:en
Short-container-title:Pediatr Dev Pathol

Author:

Akçören Zuhal¹,Göğüş Safiye¹,Koçak Nurten²,Gürakan Figen²,Özen Hasan²,Yüce Aysel²

Affiliation:

1. Pediatric Pathology Unit, Hacettepe University Children's Hospital, 06100 Ankara, Turkey

2. Pediatric Gastroenterology Unit, Hacettepe University Children's Hospital, 06100 Ankara, Turkey

Abstract

Cholesteryl ester storage disease (CESD) is rare and characterized by accumulation of cholesteryl esters and triglycerides in many tissues due to the deficiency of lysosomal acid lipase. We report a 3½-year-old child with CESD. The diagnosis was indicated by liver biopsy and confirmed by reduced acid lipase activity in leukocytes.

Publisher

SAGE Publications

Subject

General Medicine,Pathology and Forensic Medicine,Pediatrics, Perinatology and Child Health

Link

http://journals.sagepub.com/doi/pdf/10.1007/s100249900164

Reference13 articles.

1. In Situ Localization of the Genetic Locus Encoding the Lysosomal Acid Lipase/Cholesteryl Esterase (LIPA) Deficient in Wolman Disease to Chromosome 10q23.2-q23.3

2. A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.

3. Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease

4. Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD)

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Lysosomal acid lipase deficiency in pediatric patients: a scoping review;Jornal de Pediatria;2022-01

2. Lysosomal Storage Disorders: Haematology Perspective;Nonmalignant Hematology;2016

3. Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease;Journal of Hepatology;2013-06

4. Cholesterinesterspeicherkrankheit;Der Pathologe;2009-01-22

5. Severe chronic diarrhea and weight loss in cholesteryl ester storage disease: A case report;World Journal of Gastroenterology;2005