A Fourteen Years Old Boy with Cholesterol Ester Storage Disease

Authors

  • Faizul Islum Chowdhury Associate Professor, Dept. of Medicine, Dhaka Medical College, Dhaka
  • Ahmedul Kabir Assistant Professor, Dept of Medicine, Dhaka Medical College, Dhaka
  • Jayanta Banik Post-graduate Trainee, Dept. of Medicine, Bangabandhu Sheikh Mujib Medical University, Dhaka
  • Pinaki Paul Registrar, Dept. of Medicine, Dhaka Medical College Hospital, Dhaka
  • Mostofa Kamal Assistant Registrar, Dept. of Medicine, Dhaka Medical College Hospital, Dhaka
  • Hasna Hena Parveen Medical Officer, Dept. of Medicine, Dhaka Medical College Hospital, Dhaka
  • Umme Kulsum Mitu Post-graduate Trainee, Dept. of Medicine, Dhaka Medical College Hospital, Dhaka
  • Rowzatul Ferdous Intern Doctor, Dept. of Medicine, Dhaka Medical College Hospital, Dhaka

DOI:

https://doi.org/10.3329/jom.v10i2.2835

Keywords:

Cholesterol Ester Storage Disease, Lysosomal Storage Diseases, Lipidoses

Abstract

Cholesterol ester storage disease (CESD) is a rare autosomal recessive disorder resulting from lysosomal acid lipase deficiency and is usually characterized by hepatomegaly and hyperlipidemia. It is diagnosed by liver biopsy which characteristically shows microvesicular steatosis and periportal fibrosis. Here we report a fourteen years old boy who had presented with unexplained hepatomegaly, and hyperlipidemia determined incidentally. He was finally diagnosed as a case of cholesterol ester storage disease by liver biopsy. Though there is yet no specific treatment for CESD; however, the early detection of cases would make the timely control of complications possible.

Keyword: Cholesterol Ester Storage Disease, Lysosomal Storage Diseases, Lipidoses   

doi: 10.3329/jom.v10i2.2835  

J MEDICINE 2009; 10 : 146-148

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How to Cite

Chowdhury, F. I., Kabir, A., Banik, J., Paul, P., Kamal, M., Parveen, H. H., Mitu, U. K., & Ferdous, R. (2009). A Fourteen Years Old Boy with Cholesterol Ester Storage Disease. Journal of Medicine, 10(2), 146–148. https://doi.org/10.3329/jom.v10i2.2835

Issue

Section

Case Reports