Case Report
Copyright ©2005 Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Apr 21, 2005; 11(15): 2364-2366
Published online Apr 21, 2005. doi: 10.3748/wjg.v11.i15.2364
Severe chronic diarrhea and weight loss in cholesteryl ester storage disease: A case report
Uta Drebber, Matthias Andersen, Hans U Kasper, Peter Lohse, Manfred Stolte, Hans P Dienes
Uta Drebber, Hans U Kasper, Hans P Dienes, Institute of Pathology, University of Cologne, Germany
Matthias Andersen, Department of Internal Medicine, St.-Vincenz-Hospital, Datteln, Germany
Peter Lohse, Department of Clinical Chemistry-Grosshadern, University of Munich, Germany
Manfred Stolte, Institute of Pathology, Klinikum Bayreuth, Germany
Author contributions: All authors contributed equally to the work.
Correspondence to: Dr. Uta Drebber, Institute of Pathology, University of Cologne, Joseph-Stelzmann-Str. 9, D-59031 Cologne, Germany. u.drebber@uni-koeln.de
Telephone: +49-221-4786370 Fax: +49-221-4786360
Received: July 8, 2004
Revised: July 9, 2004
Accepted: August 12, 2004
Published online: April 21, 2005
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.

Keywords: CESD, Acid esterase, Hydrolase, Liver biopsy, Pathology, Diarrhea