Diffuse neuroaxonal leukodystrophy with spheroids of adult onset: MRI and pathological studies

A case of sudanophilic leukoencephalopathy of adult onset was reported. A 42-year-old Japanese woman showed progressive dementia, gait disturbance, apraxia of the left hand, left hemiparesis, and urinary and fecal incontinence. Magnetic resonance imaging (T2-weighted scans and proton images) revealed a symmetrical widespread increase in the signal intensity of cerebral white matter, more prominent in the frontal lobes. Blood levels of very long chain fatty acids and arylsulfatase A were within normal limits. A needle biopsy specimen from the frontal lobe revealed severe demyelination with sudanophilic granules and neurofilament protein-immunoreactive neuroaxonal spheroids in the white matter. The patient's mother was known to have similar symptoms and died at the age of 45, indicating an autosomal dominant inheritance. Because of the dominant inheritance, the psychiatric and neurological symptoms, and the characteristic neuroaxonal spheroids, the case was tentatively diagnosed as ‘hereditary diffuse leukoencephalopathy with spheroids’, a condition that has not been previously reported in Japan.