title: Marked clinical and histologic improvement in a patient with type-1 Gaucher's disease following long-term glucocerebroside substitution. A case report and review of current diagnosis and management.
abstract: Type-1 Gaucher's disease represents the most common lysosomal storage disorder. With the introduction of enzyme replacement therapy, many of the clinical manifestations can be controlled. The functional deficiency of the lysosomal beta-glucocerebrosidase leads to deposition of glycosylceramide in the liver, spleen, and bone marrow. We report the clinical and pathologic presentation of a patient with a florid type-1 Gaucher's disease who received long-term enzyme replacement therapy, which led to marked clinical improvement. A repeat liver biopsy performed at the time of a cholecystectomy several years after initiation of enzyme replacement therapy revealed complete resolution of Gaucher cells.
authors.affiliation: Department of Pathology, University Hospital Bonn, Germany.
authors.forename: Lukas Carl
authors.initials: LC
authors.lastname: Heukamp
authors.forename: Detlef-Wilhelm
authors.initials: DW
authors.lastname: Schröder
authors.forename: Dominik
authors.initials: D
authors.lastname: Plassmann
authors.forename: Jürgen
authors.initials: J
authors.lastname: Homann
authors.forename: Reinhard
authors.initials: R
authors.lastname: Büttner
mesh_terms: D001853:Bone Marrow / Q000473:pathology; D005260:Female; D005776:Gaucher Disease / Q000188:drug therapy* / Q000473:pathology* / Q000503:physiopathology; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D008099:Liver / Q000473:pathology*; D008875:Middle Aged
chemical_list: D005962:Glucosylceramidase