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: Lukas Carl Heukamp, Detlef-Wilhelm Schröder, Dominik Plassmann, Jürgen Homann, Reinhard Büttner
• Journal: Pathology, research and practice (Pathol Res Pract) Vol. 199 Issue 3 Pg. 159-63 ( 2003) ISSN: 0344-0338 [Print] Germany
• PMID: 12812317 (Publication Type: Case Reports, Journal Article)

Chemical References

• Glucosylceramidase

Topics

• Bone Marrow (pathology)
• Female
• Gaucher Disease (drug therapy, pathology, physiopathology)
• Glucosylceramidase (therapeutic use)
• Humans
• Liver (pathology)
• Middle Aged