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

被引：17

作者：

Drebber, Uta ^{[1
]}

Andersen, Matthias ^{[2
]}

Kasper, Hans U. ^{[1
]}

Lohse, Peter ^{[3
]}

Stolte, Manfred ^{[4
]}

Dienes, Hans P. ^{[1
]}

机构：

[1] Univ Cologne, Inst Pathol, D-59031 Cologne, Germany

[2] St Vincenz Hosp, Dept Internal Med, Datteln, Germany

[3] Univ Munich, Dept Clin Chem Grosshadern, D-80539 Munich, Germany

[4] Klinikum Bayreuth, Inst Pathol, Bayreuth, Germany

来源：

WORLD JOURNAL OF GASTROENTEROLOGY | 2005年 / 11卷 / 15期

关键词：

CESD; Acid esterase; Hydrolase; Liver biopsy; Pathology; Diarrhea;

D O I：

10.3748/wjg.v11.i15.2364

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

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. (C) 2005 The WJG Press and Elsevier Inc. All rights reserved.

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页码：2364 / 2366

页数：3

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