IPLab:Lab 5:Gaucher Disease

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Clinical Summary

This 23-year-old black female delivered a stillborn infant by Caesarean section, following which she experienced excessive uterine bleeding including the passage of blood clots. Further study revealed an enlarged spleen and thrombocytopenia (platelet count 58,000The normal platelet count is 150,000 to 400,000/mm³.). A splenectomy was performed with an uneventful postoperative course other than persistent pain in her right leg (the right hip had been fractured 2 years earlier). Subsequently she developed aseptic necrosisTrauma (from fracture or surgery) is one cause of asceptic (or avascular) necrosis of bone, which is defined as the death of bone and bone marrow in the abscence of an infectious agent. of the left femoral head requiring a prosthetic replacement. Microscopic evaluation of the bone removed at the time of surgery revealed Gaucher cells in the marrow space.

Autopsy Findings

The surgical specimen was a 935 gram spleenThe normal spleen weighs 155 grams.. Its surface was pale with an area of bluish discoloration. The cut surface revealed the same pale appearance.


Virtual Microscopy

Study Questions

Additional Resources


Journal Articles