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DISCUSSION

This is an X-linked inherited metabolic peroxisomal disorder characterised by a lack of oxidation of very long chain fatty acids (VLCFAs) This results in severe inflammatory demyelination of the periventricular deep white matter with predominant changes seen posteriorly, with early involvement of the splenium of the corpus callosum and parietal white matter changes

Abnormal MRI findings precede clinical findings and include deep white matter signal changes in the parieto-occipital lobes and splenium of the corpus callosum and may include lesions of the visual and auditory pathways

Bone marrow transplantation is thought to be favourable in the early stages of the disease.