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How good at neurology are you? — Answers

1. All stems are incorrect. The diagnosis of adrenoleukodystophy (ALD) was suggested by a history of childhood Addison’s disease affecting a cousin and then confirmed by very long chain fatty acid measurements and postmortem examination. With advancing age, the adreno-myelo-neuropathy phenotype, rather than a leukodystrophy, becomes more likely. This X-linked recessive disorder affects one in 20,000 males and the responsible gene is located on the long arm of the X chromosome (Xq28). The gene encodes a peroxisomal membrane protein that belongs to the ATP binding cassette family of transporter proteins. Involvement of the posterior cerebral hemispheres, causing central visual loss, is typical of ALD. Very long chain fatty acids are deposited in affected tissue—seen here as adrenal cell inclusions.
   Further reading
   Moser HW. Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. Brain 1997;120:1485–508.[Abstract/Free Full Text]
   
2. The creamy coloured foveal lesion accounts for the visual problems. The patient had had systemic . . . [Full text of this article]