IPLab:Lab 5:Gaucher Disease: Difference between revisions

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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 58,000). 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 necrosis 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.
+This 23-year-old female went to her doctor because of chronic fatigue, bone pain, and easy bruising and frequent nose bleeds.  Physical exam demonstrated hepatomegaly and splenomegaly and lab results demonstrated anemia and thrombocytopenia.  Biopsy and further workup led to a diagnosis of Gaucher disease.
+Despite appropriate therapy the anemia and thrombocytopenia persisted as well as the severe splenomegaly.  A splenectomy was performed.  The surface of the spleen was pale and roughly granular. The cut surface revealed the same pale appearance.
 == Autopsy Findings ==