Assessment of Dementia with Lewy Bodies in a Patient with both Characteristic and Atypical Features

Objective Dementia with Lewy Bodies (DLB) is the second most common neurodegenerative dementia after Alzheimer disease (ad). Its heterogeneous presentation and overlapping features with other dementias result in frequent misdiagnosis, which can delay optimal management. The present case illustrates complex symptomology, comprehensive assessment, and diagnostic challenges in a patient with DLB. Method A 64-year-old female presented to an academic medical center neurology clinic with rapid cognitive deterioration over the past 1.5 years accompanied by visual disturbances, psychiatric and behavioral changes, and mild motor symptoms. Initial differential included Creutzfeldt-Jakob disease, atypical parkinsonism, frontotemporal lobar degeneration (FTLD), encephalopathy, and ad. Work-up in included neuropsychological, neuroimaging, cerebral spinal fluid (CSF), electroencephalogram (EEG), and skin biopsy assessments. Results Neuropsychological interview revealed fluctuating attention/alertness, visual hallucinations, hyposmia, paranoid and repetitive behaviors, and subtle evidence for dream enactment. Her cognitive profile showed global impairment with pronounced visuospatial and executive deficits. Recognition memory, verbal reasoning, and naming were relatively well-preserved. Magnetic resonance imaging showed mild atrophy; fluorodeoxyglucose positron emission tomography (PET) showed hypometabolism in frontal and temporal regions whereas uptake was highest in the occipital lobes and basal ganglia; skin biopsy was positive for synucleinopathy; CSF and EEG were broadly unrevealing. Conclusions The preponderance of data was consistent with diagnostic criteria for probable DLB. Skin biopsy increased diagnostic confidence. Atypical features included relatively rapid cognitive decline, minimal parkinsonism, and PET imaging suggesting FTLD. The present case highlights the utility of a multidisciplinary approach (e.g., neurological exam, detailed symptom screening, neuropsychological testing, and advanced laboratory assessments) in a complex case of DLB.