Brainstem-type Lewy body disease presenting with progressive autonomic failure and lethargy

Area of Science:

• Neuropathology
• Autonomic Neuroscience

Background:

• Lewy body diseases (LBDs) are a spectrum of neurodegenerative disorders characterized by the presence of Lewy bodies.
• While classical LBDs often present with parkinsonism and cognitive decline, atypical presentations exist.

Observation:

• An autopsy case presented with progressive lethargy and severe autonomic failure (sleep apnea, orthostatic hypotension, dysuria, hypohidrosis).
• Parkinsonian motor symptoms were notably absent.
• Microscopic examination revealed numerous Lewy bodies in the brainstem, spinal cord intermediolateral cell columns, and sympathetic ganglia.
• Lewy bodies were rare in the cerebral cortex and other supratentorial regions.
• Significant neuronal loss was observed in the locus ceruleus, raphe nuclei, dorsal vagal nuclei, and intermediolateral cell columns.

Findings:

• This case demonstrates a distinct clinicopathologic subtype of Lewy body disease.
• The distribution of Lewy bodies and neuronal loss predominantly involved the autonomic nervous system and brainstem.
• The absence of cortical and nigral Lewy bodies correlated with the lack of cognitive impairment and parkinsonism.

Implications:

• This case expands the understanding of the clinicopathologic spectrum of Lewy body diseases.
• It highlights the potential for LBD to manifest primarily as autonomic failure with brainstem and spinal cord pathology.
• Further research into this specific pattern may elucidate novel diagnostic and therapeutic targets for autonomic dysfunction in neurodegenerative disorders.