What is the role of imaging studies in the workup of Prader-Willi syndrome (PWS)?

Updated: Oct 14, 2020
  • Author: Ann Scheimann, MD, MBA; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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  • Individuals with Prader-Willi syndrome are at risk for pathologic fractures secondary to underlying osteoporosis. A high pain tolerance may allow for minimal symptoms of discomfort with obvious deformity. Patients with Prader-Willi syndrome may require the following imaging studies: [6]

    • MRI of the head (to evaluate for hypopituitarism)

    • Serial dual energy x-ray absorptiometry (DEXA) scanning (for detection and monitoring of osteoporosis) [7]

    • Scoliosis films

      Severe typical scoliosis. Severe typical scoliosis.
    • Chest radiography (if cor pulmonale is suspected)

    • Other imaging modalities as clinically dictated (eg, extremity film for limp evaluation, hip films to screen for hip dysplasia [8] )

  • In patients who suddenly develop abdominal distention, abdominal pain, or a decrease in appetite, imaging including plain abdominal radiography, abdominal ultrasonography, or CT scanning and gastrointestinal series may be warranted to screen for possible conditions such as acute gastric dilation, cholelithiasis, or pancreatitis.

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