ALD

ALD: kids w neuro probs (cognitive, behavioral, blindness, paresis), Xlink FHx, dx w VLCFA↑, MRI (occipital wht matter lesion)


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  • ALD
  • aka: Adrenoleukodystrophy,
  • kids w neuro probs (cognitive, behavioral, blindness, paresis), Xlink FHx, dx w VLCFA↑, MRI (occipital wht matter lesion)
  • kids w neuro probs (cognitive, behavioral, blindness, paresis), Xlink FHx
  • neuro (blindness, paresis)
  • VLCFA↑, MRI (occipital wht matter lesion)
  • Xlink, mutated ATP-binding cassette prevent utilization of VLCFA, which accumulates, causes problems w myelin formation
  • Lorenzo's oil
  • VLCFA = very long chain fatty acid