Diffuse Lewy body disease presenting as multiple system atrophy

Objectives: The majority of patients with diffuse Lewy body disease have co gnitive or psychiatric manifestations as part of their initial presentation . A sizable minority present with parkinsonian features alone. Autonomic fe atures may also occur, typically after the development of cognitive changes . We aim to demonstrate that diffuse Lewy body disease may rarely also pres ent with parkinsonism accompanied by marked autonomic dysfunction in the ab sence of significant cognitive or psychiatric abnormalities, Methods: Case report based on a retrospective chart review and neuropathological examinat ion. Results: We report on a patient in whom a clinical diagnosis of multip le system atrophy was made based on a presentation of parkinsonism with pro minent and early autonomic involvement. The former included postural tremor , rigidity and bradykinesia, while the latter consisted of repeated falls d ue to orthostasis and the subsequent development of urinary incontinence mi dway through the course of her illness. She was poorly tolerant of dopamine rgic therapy due to accentuated orthostasis. Benefit from levodopa was limi ted and only evident when attempted withdrawal resulted in increased rigidi ty. There was no history of spontaneous or drug-induced hallucinations, del usions or fluctuating cognition, and in contrast to the prominence and prog ression of her parkinsonian and autonomic features over the first several y ears, cognitive impairment did not occur until the final stages of her illn ess, seven years after the onset of initial symptoms. Neuropathological exa mination revealed numerous Lewy bodies in both neocortical as well as subco rtical structures consistent with a diagnosis of diffuse Lewy body disease. There was marked neuronal loss in the substantia nigra as well as the auto nomic nuclei of the brainstem and spinal cord. Conclusions: In addition to cognitive, psychiatric, and parkinsonian presentations, diffuse Lewy body d isease may present with parkinsonism and prominent autonomic dysfunction, f ulfilling proposed criteria for the striatonigral form of MSA.