Objective: To describe the case of a patient presenting with a progressive neurodegenerative syndrome characterized by the coexistence of dementia, parkinsonism, and motor neuron disease.

Background: The Guam Complex is a rare neurodegenerative disorder first identified in the Chamorro population of the Mariana Islands, characterized by the overlap of amyotrophic lateral sclerosis (ALS), parkinsonism, and dementia. While its exact etiology remains unclear, environmental and genetic factors have been implicated. This condition has been predominantly reported in Guam and other Pacific island populations, with very few cases described outside these regions.

Method: A 69-year-old female from Colombia presented with a five-year history of neuropsychiatric and motor symptoms. Initially, she developed anxiety, insomnia, and depression, followed by cognitive decline, hallucinations, gait disturbances, and parkinsonism. Despite treatment with levodopa, rivastigmine, and memantine, her symptoms progressed to complete mutism and urinary incontinence. A comprehensive neurological assessment, including MRI, neuropsychological evaluation, and electromyography (EMG), was conducted to determine the underlying pathology.

Results: Neurological examination revealed hypomimia, mutism, hyperreflexia, resting tremor in the upper extremities, muscle atrophy with fasciculations, and a magnetic gait. Brain MRI showed diffuse frontoparietal atrophy, neuropsychological testing confirmed major neurocognitive disorder, and EMG demonstrated asymmetric motor axonal neuropathy with denervation in cervical and lumbar segments, confirming motor neuron involvement. Given this combination of dementia, parkinsonism, and motor neuron disease, a diagnosis of Guam Complex was established, and treatment with riluzole was initiated. Notably, to our knowledge, this is the first reported case of Guam Complex in Colombia.

Conclusion: This case highlights the progressive nature of Guam Complex and the importance of considering rare neurodegenerative syndromes in patients presenting with overlapping cognitive, motor, and neuromuscular symptoms. Additionally, the identification of this case outside traditionally affected populations suggests the need for further investigation into potential genetic or environmental contributors beyond the Pacific region.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/expanding-the-geographic-spectrum-of-guam-complex-a-case-report-from-colombia/