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Case Study: Creutzfeldt-Jakob Disease (CJD) Jo Ann Miller, BSN, RN, CCRN Trauma Program Manager Deb Hess, RN, CIC Clinical Supervisor, Infection Control December 19, 2014

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Case Presentation 60 y/o Caucasian male PMH: Essential HTN Chronic back pain lumbar region (minor disc bulging) Anxiety Thyroid CA PSH: Partial thyroidectomy 2011 Social History: Married to wife X 30 years Two adult sons Works as a Controller Medical LOA

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Case Presentation Medications: Lisinopril 40 mg daily Coreg 12.5 mg BID Amlodipine 10 mg daily OxyContin 10 mg every 12 hours back pain Valium 5 mg every 8 hours PRN back spasms Ativan 1mg every 8 hours PRN anxiety Oxycodone 5 mg every 4 hours PRN back pain

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Case Presentation December 2013 presented to PCP: Chief Complaint Confusion fire alarm in refrigerator, mixed laundry up Delusional activity bugs crawling on skin Difficulty focusing staring at TV for hours Memory loss Back pain with spasms; pain in left buttock extending down left leg Wife noted symptoms started in March 2013; slow progression over past several months with exacerbation over past week. Patient was trying to cut back on narcotic and sedative use. Withheld valium, oxycodone and OxyContin X 11 days. CT head negative CMP, CBC without abnormalities Plan: restart oxycodone, OxyContin and valium at lower doses/longer time intervals.

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Case Presentation December 2013 PCP follow up visit: Patient feels as though symptoms improving but wife states still has confusion and memory loss attempted to get into his car, but got into wifes car and did not know what to do; could not remember sons name. Chronic back pain Plan: Continue oxycodone, OxyContin, and valium Referral to Neurology

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Case Presentation January 2014 Neurology Consult: Assessment: HENT, CV, RESP, GI, GU, MS negative assessment Neuro exam: MMSE: Alert and oriented, poor concentration and attention; poor concentration for complex series of thought; fairly normal memory recall; normal speech and language CNs 2-12 intact Diagnosis: Memory Loss Cognitive Communication Deficit

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Case Presentation Neurology Plan: Brain MRI EEG Lumbar puncture/CSF analysis Glucose Protein Albumin Cryptococcal Lyme West Nile Enterovirus CME Toxoplasma TAU Protein 14-3-3 Protein Labs: PT, PTT CC, ESR A1C ANA Thyroid panel Protein Electrophoresis SSB RPR VDRL ANCA C ANCA P Rheumatoid Arthritis Factor Angiotensin Converting Enzyme Vitamin B12, Folate Anti Hu Cytology

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Case Presentation Diagnostic Results (February 2014): EEG: unremarkable; no seizure activity; no slowing MRI Brain: Extensive confluent white matter disease in both cerebral hemispheres, nonspecific in appearance. Demyelinating or dysmyelinating processes should be considered. Vascular processes such as small vessel ischemic change or vasculitis should also be considered. No mass or abnormal enhancement noted. Prominent cisterna magna versus small retrocerebellar arachnoid cyst. (unremarkable) MRI Brain Spectography: Spectra overall fairly unremarkable. There is no significant choline elevation or NA depression. No findings to suggest a highly metabolic or rapidly dividing cellular process such as a higher grade malignancy is evident. Demyelinating pathology can sometimes have choline elevation and again there is no significant choline elevation throughout the hemispheric white matter abnormality. CSF: unremarkable except for highly elevated TAU protein of 1929 pg/mL, ambigous 14-3- 3 protein levels, and positive Rt-QuIC test. Lab work: unremarkable except for an elevated cholesterol level of 217.

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Differential Diagnosis Alzheimers Disease Dementia with Lewy Bodies Frontotemporal Dementia Meningoencephalitis Corticobasal Degeneration Progressive Supranuclear Palsy CVA Seizures Opioid withdrawal OR.

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Diagnosis: Creutzfeldt Jakob Disease (CJD) (probable) Neurology follow up visit: Probable CJD CSF sent to National Prion Disease Pathology Surveillance Center TAU Protein highly elevated (neuronal microtubules stabilization) Ambiguous 14-3-3 protein (surrogate markers of neuronal damage not specific for sCJD) Positive Rt-QuIC test (specific for sCJD) BUT No known exposure base on history No blood transfusions No transplants Lives close to a cattle farm but no exposure to slaughter house Diagnosis: Very early stages of probable CJD Definitive diagnosis: BRAIN BIOPSY Plan: Repeat EEG and MRI in two months Follow up Neurology 2 months

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Creutzfeldt Jakob Disease First reported by German Neurologists: Hans Gerhard Creutzfeldt in 1920 Shortly thereafter by Alfons Maria Jakob

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Creutzfeldt Jakob Disease Transmissible Spongiform Encephalopathy's (TSEs): Also known as prion diseases Proteinaceous infectious particle infected protein that folds Causes other proteins to fold damages neurons Rare degenerative brain disorder Characterized by tiny holes that give the brain a spongy appearance: CJD is the most well-known of the human TSEs or prion diseases Other Human prion diseases: Kuru found in a isolated tribe in Papua New Guinea (extinct) Variant CJD (vCJD) Animal prion diseases: Bovine spongiform encephalopathy's (BSEs): Mad Cow Disease Scrapie sheep and goats Chronic Wasting Disease elk and deer

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Creutzfeldt Jakob Disease

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Incidence: World wide 1-2 in 1 million In US ~300 cases per year Age of onset: 60 90% die within a year Diagnosis is difficult Low index of suspicion Lack of knowledge of this rare disease Long incubation period (vCJD)

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Creutzfeldt Jakob Disease Three major categories of CJD: Sporadic 80% most common Hereditary 3-10% Acquired