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Pediatric and systemic syndromes

Refsum disease

3:1613 visual cues1 clinical photo

In this image

Each number marks an object in the image and the finding it stands for.

  1. RefereeRefsum disease
  2. Reese's cupAutosomal recessive inheritance
  3. Pie on hayPHYH (phytanoyl-CoA hydroxylase)
  4. Greasy fatPhytanic acid accumulation
  5. NightNyctalopia
  6. SpiculesRetinitis pigmentosa
  7. StaggeringCerebellar ataxia
  8. Broken wiresPeripheral polyneuropathy
  9. Scaly jerseyIchthyosis
  10. HeadphonesSensorineural hearing loss
  11. FlowerAnosmia
  12. Heart monitorCardiac involvement and arrhythmias
  13. DietitianDietary phytanic acid restriction
  14. ReviewEvery marker, in order

Transcript

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Clinical image credits

Openly licensed photographs used in this lesson, with what was changed.

  1. Matthew D. Benson, Ian M. MacDonald, Melissa Sheehan, Shailly Jain (2020). Improved electroretinographic responses following dietary intervention in a patient with Refsum disease.

    CC BY 4.0Article

    Exact rectangular crop [0, 0, 344, 287] from 709 × 287 publisher figure. Decoded RGB pixels preserved; no enhancement, arrows, retouching or upscaling.