Adult onset X-linked adrenoleukodystrophy
31 years old Chinese gentleman with no past medical history. Presented with features of mania 4 years ago and later admitted to hospital with episodes of adrenal crisis. Later diagnosed Addison Disease via ACTH stimulation test.
MRI Brain (selected images)
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Abnormal signal intensity of the white matter of forceps major and splenium of corpus callosum.
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.
- Chee, K.Y. et al., 2013. Bipolar I disorder presaging X-linked adrenoleukodystrophy. The Journal of neuropsychiatry and clinical neurosciences, 25(3), pp.E20–2.