Abstract
A 42-year-old man presented with 1 year of progressive behavioral and personality changes. His antenatal, birth, and neurodevelopment were unremarkable. Examination showed hyperactive behavior, lower limbs paralysis (Medical Research Council grading 3) with pyramidal signs, and no skin hyperpigmentation or visual disturbance. Brain MRI revealed diffuse lesions in both frontal lobes, with peripheral rim restricted diffusion and enhancement (figure 1). Elevated plasma very-long-chain fatty acid level, p.Ser98Ter mutation in ABCD1 gene, and his pedigree (figure 2) confirmed the diagnosis of adult-onset cerebral X-linked adrenoleukodystrophy (X-ALD). X-ALD is an inborn error of metabolism predominantly within posterior involvement including parieto-occipital lobes and splenium of the corpus callosum; about 15% of patients have an anterior pattern of atypical involvement.1,2 Frontal involvement can be seen in X-ALD, and this imaging feature can expedite the diagnosis of this atypical X-ALD.
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