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

作     者：Uta Drebber Matthias Andersen Hans U Kasper Peter Lohse Manfred Stolte Hans P Dienes 

作者机构：Institute of Pathology Department of Internal Medicine Department of Clinical Chemistry-Grosshadern 

出 版 物：《World Journal of Gastroenterology》 (世界胃肠病学杂志（英文版）)

年 卷 期：2005年第11卷第15期

页      面：2364-2366页

核心收录：

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

主　　题：CESD Acid esterase Hydrolase Liver biopsy Pathology Diarrhea 

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