Cholesteryl ester storage disease: a patient with massive splenomegaly and splenic abscess

Am J Gastroenterol. 1988 Jun;83(6):687-92.

Abstract

Cholesteryl ester storage disease (CESD), a rare lysosomal storage disorder characterized by functional deficiency of acid lipase activity, classically features hepatomegaly in conjunction with lipid-laden macrophages containing excessive quantities of cholesteryl esters. We present a patient whose clinical course was complicated by massive, symptomatic splenomegaly, and an unsuspected splenic abscess. Computed tomographic and magnetic resonance imaging are correlated. Histologic, electron microscopic, and biochemical features are presented. To our knowledge, this is the first report of splenic abscess in CESD.

Publication types

  • Case Reports

MeSH terms

  • Abscess / complications*
  • Abscess / pathology
  • Child
  • Cholesterol Esters / metabolism*
  • Female
  • Humans
  • Lipid Metabolism, Inborn Errors / complications*
  • Lipid Metabolism, Inborn Errors / genetics
  • Lipid Metabolism, Inborn Errors / pathology
  • Liver / pathology
  • Pedigree
  • Spleen / pathology
  • Splenic Diseases / complications*
  • Splenic Diseases / pathology
  • Splenomegaly / etiology*

Substances

  • Cholesterol Esters