The Quizzes about Muscles and joints – Part 1 (20 test)

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A 42-year-old man of Eastern European Jewish descent develops aseptic necrosis of the femoralhead. The other femur shows evidence of osteopenia, and there is diffuse osteopenia of the spine with some collapse. Review of medical records reveals he has had splenomegaly and mild pancytopenia for years. A bone marrow examination is abnormal for infiltration with lipid-laden macrophages called “Gaucher cells.” Which of the following is the most likely mechanism for this condition?

Each syndrome in the lysosomal storage diseases is caused by a mutation-produced deficiency in the activity of a lysosomal enzyme. For example, Tay-Sachs disease is caused by a deficiency of hexosaminidase A, resulting in accumulation of GM2 ganglioside. Gaucher’s disease is caused by a deficiency of beta-glucocerebrosidase, resulting in an accumulation of glucosylceramide. It has several forms and, as in this case, is most common in Ashkenazi (Eastern European) Jews. Type I Gaucher’s disease, as described in this case, is the most common type. Severe bone disease and hepatosplenomegaly is characteristic. Lipid-laden macrophages (Gaucher cells) are found in the bone marrow.

The Quizzes about Muscles and joints – Part 1 (20 test)
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