A CLASSIC CASE OF CREUTZFELDT-JAKOB DISEASE (CJD)

ABSTRACT

CASE A 64-year-old woman was brought in by husband for inability to care for patient. Previously active, she developed gait instability, slurred speech, and memory lapse to the point of selective mutism and being bed-bound within three months. Her medical history was notable for hypertension and Covid four months prior. She had had mild upper respiratory symptoms and recovered in ten days. Examination revealed general encephalopathy, dysarthria, limited ability to follow commands. She had decreased strength but increased tone and rigidity in all extremities. She had rhythmic jaw movement and bradykinesia with scatter myoclonic movements. Cerebellar exam was notable for ataxia, but she had normal cranial nerve and sensory exams and normal reflexes. MRI of the brain revealed restricted diffusion and T2/Flair signal abnormality involving bilateral basal ganglia, ventral medial thalami, hippocampi, and cerebral cortices. Toxic metabolic workup was unrevealing. CSF was positive for 14-3-3 protein and elevated total tau protein, confirming Creutzfeldt-Jakob disease. IMPACT/DISCUSSION: Creutzfeldt-Jakob Disease (CJD) is a prion disease with one in a million prevalence. Patients present with rapidly progressing dementia, myoclonus, and signs of cerebellar, corticospinal and extrapyramidal involvement including nystagmus, ataxia, hyperreflexia, spasticity, hypokinesia, bradykinesia, dystonia, and rigidity. CJD is fatal within months to two years. Patients with end stage disease may have akinetic mutism. Magnetic resonance imaging (MRI), electroencephalogram (EEG), and cerebrospinal fluid (CSF) analysis are important for evaluation of CJD. Most sensitive in early stages, MRI Brain commonly shows hyperintense signal involving the cerebral cortex, corpus striatum, caudate, and putamen. EEG may capture pattern of periodic bi-or triphasic period sharp wave complexes. CSF might detect 14-3-3 protein with elevation of tau protein but real-time quaking-induced conversion (RT-QuIC) has the highest specificity for diagnosis for CJD. Though brain biopsy is the sole method of definitive diagnosis, results of MRI, EEG, and CSF analysis along with presenting signs and symptoms are sufficient for clinical diagnosis of CJD. Our patient's dementia, myoclonus, ataxia, hypokinesia, bradykinesia, dystonia, and rigidity all progressing to akinetic mutism within three months are classic presentation of CJD. EEG was normal, but MRI with hyperintensity of basal ganglia and cerebral cortices and CSF analysis with positive 14-3-3 and elevated tau proteins are all lead to diagnosis of CJD. CONCLUSION: This case illustrates a classic case of a Creutzfeldt-Jakob Disease, a rare prion disease marked by rapidly progressive dementia with neuropsychiatric features.