Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

[Cholesterol ester storage disease].

Marlon Fernández-Aragón1, Roberto Cervantes-Bustamante, Beatriz De León-Bojorge

  • 1Servicio de Gastroenterología y Nutrición, Instituto Nacional de Pediatria, México.

Revista De Gastroenterologia De Mexico
|March 12, 2005
PubMed
Summary

Cholesterol ester storage disease, a genetic lipid metabolism disorder, presents in children with enlarged liver and spleen, high triglycerides, and high cholesterol. Early diagnosis of this lysosomal acid lipase deficiency is crucial.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Pediatric consensus of autoimmune hepatitis.

Boletin medico del Hospital Infantil de Mexico·2025
Same author

[Difficult-to-Extract Foreign Bodies in Pediatric Patients].

Acta gastroenterologica Latinoamericana·2025
Same author

Biparental and Androgenetic Somatic Mosaicism with Presentation of Non-Syndromic Severe Neonatal Hyperinsulinemia.

International journal of molecular sciences·2025
Same author

Use of Digital Rectal Exam Compared With High-Resolution Anorectal Manometry in the Diagnosis of Dyssynergic Defecation in Pediatrics.

Neurogastroenterology and motility·2025
Same author

Regional differences in diagnosis and management of cow's milk allergy.

Clinical and experimental pediatrics·2024
Same author

Contrast echocardiogram for diagnosis to pulmonary arterio-venous fistulas in hepato-pulmonary syndrome.

Archivos de cardiologia de Mexico·2024

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Inborn errors of lipid metabolism are rare genetic disorders affecting lipid processing.
  • Lysosomal acid lipase (LAL) deficiency encompasses Cholesterol Ester Storage Disease (CESD) and Wolman disease, based on LAL enzyme activity.
  • CESD results from partial LAL deficiency, leading to cholesterol and triglyceride accumulation.

Observation:

  • A 4-year-old boy presented with hepatomegaly, splenomegaly, and intestinal lipid infiltration.
  • Clinical manifestations included hypertriglyceridemia and hypercholesterolemia.
  • Endoscopic and histological findings revealed lipid-laden macrophages in the intestinal mucosa and liver biopsy confirmed steatosis and lipid-rich hepatocytes.

Findings:

  • The patient was diagnosed with Cholesterol Ester Storage Disease due to partial lysosomal acid lipase deficiency.

Related Experiment Videos

  • Histopathology confirmed the accumulation of lipids within hepatocytes and macrophages.
  • The clinical presentation correlated with the biochemical consequences of impaired cholesterol and triglyceride hydrolysis.

    • Implications:

    • This case highlights the importance of considering inborn errors of lipid metabolism in pediatric patients with unexplained hepatosplenomegaly and dyslipidemia.
    • Early identification of CESD and Wolman disease is essential for timely management and to prevent progressive organ damage.
    • Screening for LAL deficiency should be considered in children presenting with the characteristic clinical triad of hepatomegaly, splenomegaly, and severe hyperlipidemia.