Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy

Renata Boldrini, Rita Devito, Roberto Biselli, Mirella Filocamo, Cesare Bosman

Research output: Contribution to journalArticle

Abstract

Deficient activity of lysosomal acid lipase (LAL) results in massive accumulation of cholesteryl esters and triglycerides in most tissues of the body. The deficiency state is expressed in two major phenotypes: Wolman disease (WD) and cholesteryl ester storage disease (CESD). WD occurs in infancy and is nearly always fatal before the age of 1 year, whereas CESD can be more benign and may not be detected until adulthood. Since there are no specific routine laboratory observations that suggest these metabolic diseases, diagnosis is based on the clinical picture combined with LAL deficiency in cultured skin fibroblasts or peripheral lymphocytes. Both disorders are rather rare, considering that about a hundred of cases have been described up to now.This study describes the histological and ultrastructural aspects disclosed by intestinal or liver biopsy in three cases of WD and in two cases of CESD. Furthermore, it emphasizes the role of morphological findings in pointing the diagnosis towards a metabolic storage disease.

Original languageEnglish
Pages (from-to)231-240
Number of pages10
JournalPathology Research and Practice
Volume200
Issue number3
DOIs
Publication statusPublished - May 17 2004

Keywords

  • Cholesteryl ester storage disease (CESD)
  • Genetic defect
  • Intestinal biopsy
  • Liver biopsy
  • Lysosomal acid lipase deficiency
  • Malabsorption
  • Wolman's disease

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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