Journal List > J Korean Orthop Assoc > v.28(5) > 1113871

Park, Park, Jahng, and Shin: Gaucher's Disease: A Case Report

Abstract

Gaucher's disease is an uncommon inborn metabolic disorder, which was first decribed by Gaucher in 1882, characterized by accumulation of the glucocerebrosides in the reticuloendothelial system such as spleen, liver and bone marrow due to the deficiency of β-Glucocerebrosidase. The great majority of cases have been reported in jews and some others in negros and orientals. We are presenting a case of 6-year-old female patient with Gauchers disease. It was diagnosed by enzyme analysis and characteristic histologic findings of bony manifestations like avascular necrosis of femoral head and pathologic fractures of both femoral necks after partial splenectomy.

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