Presentation
Presented with elevated very long chain fatty acids (VLCFA) with a positive family history involving a sibling. No neurological findings on examination.
Patient Data
Initial MRI study which demonstrates subtle increased DWI, T2 and FLAIR signal abnormality within the posterior limb of the internal capsule and corticospinal tracts. No associated SWI signal abnormality. The lesions are T1 hypointense with subtle contrast enhancement.
Follow-up imaging demonstrates a progression in the degree of hyper-intense T2 ( extending from the internal capsule into the mid brain along the corticospinal tracts), FLAIR (best appreciated on FLAIR coronal and sagittal projections) and DWI signal abnormality. There is also new contrast enhancement demonstrated on axial and coronal T1 projections.
Case Discussion
In this case we see temporal progressive corticospinal and pontomedullary tract involvement without the usual parieto-occipital white matter changes. The lesions are T2/FLAIR and DWI hyperintense and demonstrate varying degrees of contrast enhancement. This patient was found to have elevated VLFCAs in the context of a sibling with confirmed X-linked adrenoleukodystrophy. This pattern of disease is described as being more common in adults with the pattern of corticospinal involvement having a high specificity for the condition.