title: Cholelithiasis in a patient with type 2 Gaucher disease.
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.
authors.affiliation: Department of Pediatrics, Nippon Medical School, Musashi Kosugi Hospital.
authors.forename: Makoto
authors.initials: M
authors.lastname: Migita
authors.forename: Sakae
authors.initials: S
authors.lastname: Kumasaka
authors.forename: Tae
authors.initials: T
authors.lastname: Matsumoto
authors.forename: Hanako
authors.initials: H
authors.lastname: Tajima
authors.forename: Takahiro
authors.initials: T
authors.lastname: Ueda
authors.forename: Atsuyuki
authors.initials: A
authors.lastname: Yamataka
mesh_terms: D002648:Child; D002769:Cholelithiasis / Q000209:etiology*; D005260:Female; D005776:Gaucher Disease / Q000150:complications*; D006801:Humans; D012008:Recurrence