Adult onset X-linked adrenoleukodystrophy

Case contributed by Dr Chee Kok Yoon

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
MRI

MRI Brain (selected images)

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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Case information

rID: 16985
Case created: 6th Mar 2012
Last edited: 23rd Nov 2016
Inclusion in quiz mode: Included

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