Presentation
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.
Patient Data
Age: 31-year-old
Gender: Male
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Abnormal signal intensity of the white matter of forceps major and splenium of corpus callosum.
Case 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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