Neuropsychiatric red flags and ethical dilemmas in rapidly progressive cognitive decline: a Creutzfeldt-Jakob disease case report

Background

Creutzfeldt-Jakob disease (CJD) is a rare, fatal prion disorder that may initially present with prominent neuropsychiatric symptoms, creating considerable diagnostic and ethical challenges in psychiatric and neurological practice. Early psychiatric or behavioural manifestations may blur recognition of rapidly progressive neurodegeneration, contributing to a withheld diagnosis and compromising opportune autonomy-centred care. This delay is critical, as the average time from symptom onset to diagnosis is approximately 8 months, and represents nearly two-thirds of the total disease duration in its sporadic form. This case report aimed to examine neuropsychiatric red flags, ethical complexities surrounding diagnostic disclosure, and clinical tools for assessing decision-making capacity in a patient with sporadic CJD. It was hypothesised that early identification of characteristic neuropsychiatric warning signs, combined with structured capacity assessment, may facilitate earlier diagnosis and improve ethically responsible management.

Methods

A chronological case-based analysis was conducted of a 60-year-old Spanish woman presenting with rapidly progressive cognitive, behavioural and motor deterioration, based on detailed clinical records from primary care, neurology, emergency, inpatient and outpatient assessments. Clinical evolution, neurological examination, neuroimaging, cerebrospinal fluid biomarkers, electroencephalography and multidisciplinary management were reviewed. Particular focus was placed on neuropsychiatric presentation, diagnostic red flags, family requests regarding non-disclosure, and available cognitive and medico-legal frameworks for evaluating decision-making capacity, including bedside cognitive screening and formal neuropsychological instruments.

Results

Initial symptoms in October 2025 included progressive gait instability, recurrent falls and symmetric parkinsonian signs, associated to musculoskeletal or multifactorial causes on earlier assessments, illustrating diagnostic attribution bias. These were overlapped and followed over by memory impairment, spatial disorientation, parasomnias, behavioural dysregulation and complex visual hallucinations, resulting in hospital admission in March 2026 for rapidly progressive dementia. RMI imaging revealed bilateral and symmetrical diffusion-restricted hyperintensities in the caudate nuclei, basal ganglia and cingulate cortex highly suggestive of CJD, with cerebrospinal fluid protein 14-3-3 positivity supporting the diagnosis. The case highlighted multiple neuropsychiatric red flags: rapid decline, hallucinations, sleep disturbance, gait disorder and atypical parkinsonism. Ethical complexity emerged when relatives explicitly opposed disclosure of the diagnosis to the patient, requiring clinicians to balance family preferences against patient autonomy while considering deteriorating decisional capacity. Cognitive screening tools such as the Montreal Cognitive Assessment, Mini-Mental State Examination, MacArthur Competence Assessment Tool for Treatment and comprehensive neuropsychological evaluation based on Appelbaum & Grisso criteria were identified as key resources for structured capacity assessment in similar contexts, having firstly ruled out acute cognitive impairment such as delirium.

Discussion

Early neuropsychiatric manifestations of CJD may mimic primary psychiatric or functional disorders, delaying diagnosis during a critical window of rapid decline. Recognition of specific neuropsychiatric red flags can accelerate appropriate investigation and reduce diagnostic delay. This case additionally underscores that ethical management and systematic decision-making capacity assessment are central to patient-centred care in rapidly progressive neurodegenerative diseases. Integrating neuropsychiatric vigilance with ethical and legal evaluation may significantly enhance healthcare decision-making in the management of similar presentations.

References

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