Original article
Cholesterol ester storage disease: Clinical, biochemical, and pathological studies

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Of three siblings affected with cholesterol ester storage disease, two died at ages 7 and 9 years, respectively, with hepatic scarring and portal hypertension. Lipid storage was documented in both patients, as were esophageal varices and aortic plaques in the older child. The third affected sibling, followed to 13 years of age, has hepatomegaly, hyperlipidemia, short stature, adrenal calcification, and acid lipase deficiency. Leukocyte extracts demonstrated deficiency of acid lipase in this patient. This autosomal recessive condition may be allelic with Wolman disease with a more malignant course in this family than in most reported cases.

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    Citation Excerpt :

    In 1968, Schiff and colleagues34 described six siblings; the eldest brother (aged 19 years) and sister (aged 15 years) were found to have so-called orange livers, septate cirrhosis, and excess deposition of cholesteryl esters, whereas the four younger siblings showed milder changes. In 1977, Beaudet and colleagues12 reported the case of three sisters diagnosed with cholesteryl ester storage disorder, two of whom died of hepatic failure at the ages 7 and 9 years. In the following 20 years, further cases of cholesteryl ester storage disorder started emerging around the world, including in Argentina,16 Czech Republic,35 France,36 Germany,24 Ireland,13 North America,20 and Thailand.23

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Supported by General Clinical Research Center RR-00188 and National Foundation-March of Dimes Grant C-181.

1

Dr. Beaudet is a Howard Hughes Medical Institute Investigator.

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