Cholesterol Ester Storage Disease
1988; Lippincott Williams & Wilkins; Volume: 7; Issue: 3 Linguagem: Inglês
10.1097/00005176-198805000-00023
ISSN1536-4801
AutoresDaniel D’Agostino, Luisa Bay, Guillermo Gallo, Néstor Chamoles,
Tópico(s)Metabolism and Genetic Disorders
ResumoCholesterol ester storage disease (CESD) is infrequent in children. Four new cases in two nonrelated families are presented. Acid lipase deficiency in the leukocytes of the patients and reduced activity (50%) in those of parents were demonstrated. Clinical manifestations varied from neonatal cholestasis to asymptomatic hepatomegaly. Hepatic histology showed lipid vacuoles and cholesterol ester storage in hepatocytes and Kupffer cells. Increased levels of cholesterol and hepatomegaly were the first findings. There is as yet no specific treatment for CESD: however, the early detection of cases would make possible the timely control of complications.
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