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Case Reports
. 2005 Apr 21;11(15):2364-6.
doi: 10.3748/wjg.v11.i15.2364.

Severe chronic diarrhea and weight loss in cholesteryl ester storage disease: a case report

Uta Drebber  1 , Matthias Andersen, Hans U Kasper, Peter Lohse, Manfred Stolte, Hans P Dienes
Affiliations
Case Reports

Severe chronic diarrhea and weight loss in cholesteryl ester storage disease: a case report

Uta Drebber et al. World J Gastroenterol. .

Abstract

Aim: An inherited deficiency of human lysosomal acid lipase (LAL) results in the rare conditions of Wolman disease and cholesteryl ester storage disease (CESD). We want to present the rare case of CESD in an adult.

Methods: We report about an adult female patient with severe chronic diarrhea and weight loss as a consequence of CESD. Clinical examination revealed signs of malabsorption and slightly elevated liver enzymes.

Results: Histopathologic changes in the liver tissue and DNA sequence analysis confirmed the diagnosis of CESD due to homozygosity for the most common CESD mutation, a G934A splice site defect encoded by exon 8 of the lysosomal acid lipase (LIPA) gene.

Conclusion: It is the first case in the literature with diarrhea as a putative symptom of CESD in adult patients.

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Figures

Figure 1
Figure 1
Light microscopic findings in the liver. A: A tan-colored foamy material is seen in conspicuous macrophages next to and in a portal tract. HE stain ×400. B: Part of an acinus with a prominent intrasinusoidal cellular infiltration and a microvesicular steatosis of hepatocytes. HE stain (×400). C: An immunohistochemical staining with CD68 positive macrophages laden with the foamy material. D: Reticulin stain (×400). No remarkable fibrosis.
Figure 2
Figure 2
Small bowel biopsy reveals single macrophages with cytoplasmatic storage of PAS-positive foamy, tan-colored material within the apical part of the villi in the lamina submucosa. A PAS stain is demonstrated with PAS-positive macrophages between the arrows (cd) (×400).
Figure 3
Figure 3
A: Electron micrograph of liver tissue demonstrates a single cholesterol crystal in the cytoplasm of a liver cell. B: Triglyceride droplets of varied size in the cytoplasm of hepatocytes (×11000).
See this image and copyright information in PMC

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