X-LINKED ADRENOLEUKODYSTROPHY - ADULT CEREBRAL VARIANT

We report a unique case of a 43-year-old architect with adult-onset ad renoleukodystrophy who presented primarily with intellectual decline a nd no evidence of adrenal insufficiency. Serial MRIs taken over a numb er of months demonstrated the evolution of demyelination starting in t he frontal white matter then shifting to the occipital white matter an d finally resolving without any therapeutic intervention. Clinically, over this same period of time, the patient's symptoms resolved and he was able to return to work. The proband, his brother, and his nephew w ere found to have a color-vision defect. Each of these individuals had a red/green gene array that contained a 5' green-red 3' hybrid known to be associated with deutan color-vision defects. The proband's broth er and nephew were otherwise normal. The gene that causes adrenoleukod ystrophy appears not to be as close to the red/green color vision gene array on the X chromosome as previously reported.