This 65 year-old left hand dominant male was referred for progressive cognitive decline with a working diagnosis of cortical basal degeneration versus Alzheimer’s disease. The patient also had a 10-12 year history of spontaneous myoclonic jerks partially controlled with Valproic Acid. There were no reported sensory or bladder changes and no episodes of status epilepticus. Neuropsychological assessment was consistent with generalized cognitive impairment that suggested a widespread dementing illness with a MoCA of 8/30 which had deteriorated from 14/30 in the year prior. Other exam findings demonstrated difficulty with upward gaze, apraxia and a wide-based and unsteady gait. Electroencephalographic studies revealed dysrhythmia Grade IV, generalized spikes, polyspike and wave discharges, several of which were associated with myoclonic jerks, consistent with generalized epilepsy. MRI revealed generalized cerebral and cerebellar atrophy with ventriculomegaly.
Post-mortem examination failed to demonstrate significant neurofibrillary degenerative changes. Of note however, there were abundant polyglucosan bodies. These were most prominent within cerebellum, hippocampal CA4, cerebral white matter and subpial regions. Results from electron and confocal microscopy will be discussed as this pertains to neuronal localization as well as a comparison with age-matched controls and a case of childhood Lafora body disease.
