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Case of the Week

Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada

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September 16, 2013

X-Linked Adrenoleukodystrophy (ALD)

  • ALD is a peroxisomal disorder with an X-linked pattern of inheritance. It results from a deficiency of acyl Co-A synthetase.
  • Clinical manifestations start between 6 and 9 yrs of age, with behavioral, auditory, visual, and gait abnormalities.
  • Key Diagnostic Features: Demyelination classically involves occipital lobes and splenium of corpus callosum in bilaterally symmetrical pattern. Three zones are delineated on MRI (as explained in the figure caption).
  • Rx: Bone marrow transplantation (in the early stages); restriction of very long-chain fatty acids (VLCFA)

Suggested Reading

Melhem ER, Loes DJ, Georgiades CS, et al. X-linked adrenoleukodystrophy: the role of contrast-enhanced MR imaging in predicting disease progression. AJNR Am J Neuroradiol 2000;21:839–44

Kim JH, Kim HJ. Childhood X-linked adrenoleukodystrophy: clinical-pathologic overview and MR imaging manifestations at initial evaluation and follow-up. RadioGraphics 2005;25:619–31. doi: 10.1148/rg.253045118

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