Wolman's disease : ultrasonographic and computed tomographic findings

Acid lipase deficiency which is an inborn error of lipid metabolism leads to an abnormal accumulation of cholesteryl esters and triglycerides in many tissues. It is manifested in two clinical forms: Wolman's disease (WD) which is fatal in infancy and cholesteryl ester storage disease (CESD) whi...

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Bibliographic Details
Published in:Pediatric radiology 1992-11, Vol.22 (7), p.541-542
Main Authors: ÖZMEN, M. N, AYGÜN, N, KILIC, I, KURAN, L, YALCIN, B, BESIM, A
Format: Article
Language:English
Subjects:
Biological and medical sciences
Errors of metabolism
Humans
Infant
Intestines - diagnostic imaging
Intestines - pathology
Lipids (lysosomal enzyme disorders, storage diseases)
Male
Medical sciences
Metabolic diseases
Tomography, X-Ray Computed
Ultrasonography
Wolman Disease - diagnosis
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Summary:Acid lipase deficiency which is an inborn error of lipid metabolism leads to an abnormal accumulation of cholesteryl esters and triglycerides in many tissues. It is manifested in two clinical forms: Wolman's disease (WD) which is fatal in infancy and cholesteryl ester storage disease (CESD) which is a milder form and usually presented in adulthood. An infant with a clinical diagnosis of WD was examined with CT and ultrasound. Where as CT showed an enlarged liver with decreased density and heavily calcified adrenal glands, ultrasound revealed an enlarged liver with normal echogenicity, adrenal calcification and thickening of bowel loops. Bowel wall thickening in WD was not demonstrated in the literature before with any imaging modality.
ISSN:0301-0449
1432-1998
DOI:10.1007/BF02013008