Adult onset X-linked adrenoleukodystrophy

Discussion:

Leukodystrophy was diagnosed via MRI. High VLCFA was found and subsequently mutational analysis showed a mutation in ABCD1 gene. 1 year after diagnosis was made, cognitive function severely deteriorated, later he lost his vision and then speech. 

The learning point from this case is he was managed as Bipolar I disorder for several years before proper diagnosis was finally made. 

 

 

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