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Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Neuroaxonal Leukodystrophy | 7A0 Case 7 History
Case 7 History ---- This 34 year old right handed man presented dragging his left leg. In March of 1994 his speech was slurred, he had trouble with language formulation, math and calculations. His wife had noticed a change in his personality. In July of 1994 he suffered a seizure. A brain biopsy was performed during this hospitalization which was interpreted as "consistent with leucodystrophy." In November of 1994 he had bilateral release signs, a right extensor plantar response, apraxia, and a slow shuffling gait. His father suffered from a similar neurological degenerative disease which was felt to be corticobasal ganglionic degeneration but no autopsy was performed. He could comprehend simple commands. He had inappropriate laughter possibly due to pseudobulbar palsy. He was dysarthric. His visual fields were intact and he had full horizontal pursuit movements of his eyes but inadequate vertical upward gaze. There was a positive glabellar tap reflex. The jaw jerk was brisk and there was spontaneous palatal elevation. Voluntary tongue movements were present but slowed especially on the horizontal plane. There was left hemiplegia with spasticity. A flexion contracture of the left upper limb was present. There was spasticity of the lower extremities with clonus of both ankles. There was antigravity power in the right lower limb to the hip. He could lift the right upper limb. He had lost individual fine finger movement. His tone was increased and he had dystonic posturing of his trunk. He passed away in November, 1998. He received a diagnosis of diffuse hereditary leukoencephalopathy with axonal spheroids. ---- Autopsy showed pathologic changes were confined to the dorsal cerebral hemispheres and the corpus callosum white matter, with no involvement of the gray matter. The discussants thought the process had three stages, with axonal swellings first, progressing to loss of axons and vacuolation of white matter, with complete loss of axons, myelin and oligodendrocytes as the end stage. The differential diagnosis mentioned by members of the audience included solvent abuse leukoencephalopathy and Nasu Hakola disease, in which there are also bone lesions.
