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
Transcript
Slide 1
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
Slide 2
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
Slide 3
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
Slide 4
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.
Slide 5
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
Slide 6
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
Slide 7
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
Slide 8
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.
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
Slide 11
Creutzfeldt Jakob Disease First reported by German
Neurologists: Hans Gerhard Creutzfeldt in 1920 Shortly thereafter
by Alfons Maria Jakob
Slide 12
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
Slide 13
Creutzfeldt Jakob Disease
Slide 14
Slide 15
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)
Slide 16
Creutzfeldt Jakob Disease Three major categories of CJD:
Sporadic 80% most common Hereditary 3-10% Acquired