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Cholesteryl ester storage disease: pathologic changes in an affected fetus.

P K Desai, K H Astrin, S N Thung

    American Journal of Medical Genetics
    |March 1, 1987
    PubMed
    Summary

    Prenatal diagnosis of cholesteryl ester storage disease (CESD) is possible via enzyme activity tests. Fetal CESD shows adrenal necrosis, unlike later-stage liver fibrosis.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Pathology

    Background:

    • Cholesteryl ester storage disease (CESD) is a rare, autosomal recessive metabolic disorder.
    • It is caused by deficient lysosomal acid lipase (LAL) activity.
    • Prenatal diagnosis is crucial for at-risk pregnancies.

    Observation:

    • Prenatal diagnosis of CESD was achieved through LAL enzyme assay in amniocytes.
    • Histochemical and ultrastructural analysis of a 17-week fetus revealed massive lysosomal lipid accumulation.
    • Significant fetal adrenal gland necrosis was observed.

    Findings:

    • Fetal hepatocytes, adrenal cells, and syncytiotrophoblasts showed massive lysosomal cholesterol and lipid buildup.
    • Extensive necrosis in fetal adrenal glands was a key finding.

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  • Absence of liver fibrosis and duodenal macrophage lipid accumulation in the fetus suggests these are later disease manifestations.

    • Implications:

    • Early prenatal diagnosis of CESD is feasible.
    • Fetal adrenal necrosis may be an early indicator, potentially preceding calcification seen in CESD and Wolman disease.
    • Understanding disease progression from fetal to later stages aids in clinical management and prognosis.