Not so "QuiC"? a Case of Creutzfeldt-Jakob Disease Without Typical Neurologic, Imaging, or Electroencephalography Findings

Document Type

Conference Proceeding

Publication Date

11-1-2025

Publication Title

J Acad Consult Liaison Psychiatry

Keywords

Psychiatry, Psychology

Abstract

Background/Significance: Creutzfeldt-Jakob disease (CJD) is a rare, fatal prion disease leading to rapidly progressing dementia and death within weeks to months. Clinical features include dementia, involuntary movements, and cerebellar signs; however, presentations vary, and the following case highlights this and the importance of considering CJD even when classic signs are absent in order not to delay appropriate management. Case: A 64-year-old college graduate, with history of skin cancers, hypertension, and stable bipolar disorder presented with anxiety, disorganization, and bizarre behavior after a flu-like illness during which he became exhausted, anorexic, dizzy, and had multiple falls. During initial admission, an MRI showed a 1.2 cm pituitary incidentaloma and hypothyroidism. His dizziness improved with oral intake, and he was discharged to outpatient follow-up. Brexpiprazole was added to augment his treatment, but his restlessness and behavior worsened. He tried to jump out of a moving car and was hospitalized for suspected toxic-metabolic encephalopathy and akathisia. Brexpiprazole was discontinued and propranolol added but his restlessness worsened. On neurologic exam, he was alert but disoriented with impaired delayed recall and clock drawing, but no myoclonus. MRI, EEG, and CSF studies were unremarkable. He was provisionally diagnosed with autoimmune encephalitis and was given empiric intravenous immunoglobulin and high-dose methylprednisolone without improvement. Repeat CSF studies and MRI were unchanged. His neuropsychiatric symptoms worsened, requiring olanzapine, valproate, and lorazepam. Ultimately, protein 14-3-3 and real-time quaking-induced conversion (RT-QuiC) confirmed sporadic CJD. He was discharged with hospice care and passed away two weeks later. Discussion: This case was unusual with primarily psychiatric symptoms and lack of classic neurological, radiological, and EEG findings, such as cortical ribboning on DWI and FLAIR, periodic sharp wave complexes (PSWCs). Given the variable sensitivity of MRI and EEG, the absence of such findings contributed to the delay in final diagnosis.1,2 CSF studies, primarily RT-QuiC, are confirmatory, but take weeks to result. We suggest that particularly in this population, it is prudent to obtain CJD specific studies with other CSF tests in a single procedure, even if classic CJD signs are absent. Conclusion/Implications: Clinically, this patient's symptoms could be misattributed to delirium, decompensated bipolar disorder, or another type of dementia. This case emphasizes the importance of proper bedside use of cognitive screens in consultation-liaison psychiatry and maintaining a high index of suspicion for CJD in patients with rapidly progressing executive dysfunction and vague neuropsychiatric signs, even in the absence of classic findings. This is critical for accurate diagnosis and appropriate, albeit palliative, management.

Volume

66

First Page

1

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