Neuroaxonal leukoencephalopathy with axonal spheroids

A 51-year-old woman with no significant family history exhibited progressive presenile dementia followed by right-sided spastic hemiplegia and died 27 months after the onset of her illness. Brain MRI demonstrated a widespread abnormality in the cerebral deep white matter and corpus callosum. Neuropathologically, extensive destruction of axons and myelin and abundant axonal spheroids were found in the deep white matter, preferentially of the frontoparietal areas. The corpus callosum was also severely damaged. The cerebral cortex and subcortical U fibers remained intact. The pathological features were different among the lesions, reflecting the sequential degenerative processes of the white matter. This case is, to our knowledge, the third sporadic case of neuroaxonal leukoencephalopathy with axonal spheroids.