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11 year old
Different pt., same disease; findings? DDx?

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Chest findings, DDx? How is this related to findings in the hands?
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CT Face

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Skull film: “Classic”
Summary of findings and final Dx?
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Image is of a 44 year old pt. with the same disease; what’s abnormal & why?

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Answers
Thalassemia
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  • Initial films of the showed osteopenia, thinning of the cortex, cystic lesions (from marrow proliferation), and bone reinforcement lines
  • CXR showed expansion of the ribs posteriorly, confirmed by CT. this is due to extra medullary hematopoeisis
  • CT face showed marrow poliferation within the maxillary sinuses as well (can lead to so-called “rodent facies”)
  • Lateral skull film showed classic “hair-on-end” appearance
Additional Information
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  • T1-MRI image above shows red marrow expansion in the distal femur as a result of extra medullary hematopoeisis
  • Extensive thickening of the cranial vault associated with marked diploic expansion and a “hair-on-end” appearance is most characteristic of thalassemia
  • Thalassemia is common in persons of Mediterranean decent
  • The most severe from (homozygous ?-thalassemia) leads to death in-utero
  • Homozygous ?-Thalassemia (Thalassemia major) cause a severe anemia, hepatosplenomegally, and often death in childhood

 

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