Presentation
Gait abnormalities, poor vision, inability to dress and feed self.
Patient Data
There are extensive bilaterally symmetrical T1 hypointensities and T2/FLAIR hyperintensities in the parieto-occipital white matter, corpus callosum, corticospinal tracts and the cerebellar white matter. The lesions in the parieto-occipital regions show peripheral enhancement post gadolinium administration. No diffusion restriction on DWI/ADC.
Case Discussion
Adrenoleukodystrophy is an X-linked inherited peroxisomal disorder that can affect children and adults, although most cases are diagnosed in childhood. Clinical presentation includes memory impairment, emotional instability and progressive deterioration of vision, hearing and motor function1.
MRI is essential in the evaluation of patients with adrenoleukodystrophy. MRI features, in this case, support the diagnosis of adrenoleukodystrophy in this patient.
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