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Cholesteryl ester storage disease: case report during childhood
1Pediatric Pathology Unit, Hacettepe University Children's Hospital, 06100 Ankara, Turkey.
Summary
Cholesteryl ester storage disease (CESD) is a rare genetic disorder. Diagnosis in a young child involved liver biopsy and testing for lysosomal acid lipase activity.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Cholesteryl ester storage disease (CESD) is an inherited metabolic disorder.
- It results from a deficiency in lysosomal acid lipase (LAL) enzyme activity.
- This deficiency leads to the accumulation of lipids, such as cholesteryl esters and triglycerides, in various organs.
Observation:
- A case study of a 3 1/2-year-old child diagnosed with CESD is presented.
- Clinical indicators suggested the presence of the disease.
- Diagnostic procedures included a liver biopsy.
Findings:
- The diagnosis of CESD was confirmed by laboratory analysis.
- Reduced lysosomal acid lipase activity was detected in the patient's leukocytes.
- This biochemical finding is characteristic of CESD.
Implications:
- Early diagnosis of CESD is crucial for timely intervention.
- Understanding LAL deficiency aids in managing lipid storage disorders.
- This case highlights the importance of biochemical testing in pediatric rare diseases.