Cholelithiasis in a patient with type 2 Gaucher disease

J Nippon Med Sch. 2014;81(1):40-2. doi: 10.1272/jnms.81.40.

Abstract

Gaucher disease is an autosomal recessively inherited lysosomal storage disease in which a deficiency of glucocerebrosidase is associated with the accumulation of glucocerebroside in reticuloendothelial cells. Clinically, 3 types of Gaucher disease have been defined on the basis of the presence or absence of neurological symptoms. The frequency of gallbladder involvement is reportedly greater in patients with type 1 Gaucher disease than in healthy persons. We report a case of recurrent cholelithiasis and liver failure in a patient with type 2 Gaucher disease who showed severe progressive neurological involvement.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Cholelithiasis / etiology*
  • Female
  • Gaucher Disease / complications*
  • Humans
  • Recurrence