Image Challenge of the Week!

A 63-year old woman with no significant past medical history presents with 3-months of short-term memory difficulty, trouble concentrating, and emotional lability. She also has been noted by family to have intermittent bilateral jerking of her arms upon being startled. CMP, CBC, TSH, CRP, ESR, and B12 were all negative. RPR, ANA HIV, paraneoplastic antibody panel, urine drug screen, and serum HSV PCR were negative. Lumbar puncture was performed and lab results are pending. Brain MRI is shown below:

Cortical Ribboning.PNG
Intern Emerg Med. 2016 Mar;11(2):281-3.

What is the name of the above MRI finding and likely diagnosis? Scroll down for the answer.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Answer:

cortical ribboning; Cretuzfeldt-Jakob disease

Discussion:

Creutzfeldt-Jakob diseae (CJD) is a spongiform, neurodegenerative prion disease that is uniformly fatal, usually within one year. It is characterized by rapidly progressive dementia, myoclonus, behavioral changes, mood changes, and deficits in higher cortical function. CJD occurs in sporadic (sCJD), familial (fCJD), iatrogenic (iCJD), and varient (vCJD) forms. sCJD is the most common manifestation and occurs in 85-95% of the population. sCJD often occurs in patients in their early 60s. Characteristic neurohistologic findings are spongiform change, noninflammatory neuronal loss, and accumulation of prion proteins. vCJD is notable for less rapid progression, younger age of onset, prominence of psychiatric symptoms, and presence of amyloid plaques in histology.

Findings on Brain Imaging:

The most useful imaging technique in assisting in the diagnosis of CJD is MRI. The most common findings are T2 hyperintensity of the cortical gyri (cortical ribboning as shown above), the basal ganglia, and thalamus. The thalamic findings, particularly the hockey stick and pulvinar signs are more common in vCJD.

Diagnostic Criteria for CJD per the 2010 Center for Disease Control Guidelines:

Sporadic CJD

Definite:

Diagnosed by standard neuropathological techniques; and/or immunocytochemically; and/or Western blot confirmed protease-resistant PrP; and /or presence of scrapie-associated fibrils.

Probable:

Rapidly progressive dementia; and at least two out of the following four clinical features:

  1. Myoclonus
  2. Visual or cerebellar signs
  3. Pyramidal/extrapyramidal signs
  4. Akinetic mutism

AND a positive result on at least one of the following laboratory tests:

  • a typical EEG (periodic sharp wave complexes) during an illness of any duration; and/or
  • a positive 14-3-3 cerebrospinal fluid (CSF) assay in patients with a disease duration of less than 2 years
  • Magnetic resonance imaging (MRI) high signal abnormalities in caudate nucleus and/or putamen on diffusion-weighted imaging (DWI) or fluid attenuated inversion recovery (FLAIR)

AND without routine investigations indicating an alternative diagnosis.

Possible:

Progressive dementia; and at least two out of the following four clinical features:

  1. Myoclonus
  2. Visual or cerebellar signs
  3. Pyramidal/extrapyramidal signs
  4. Akinetic mutism

AND the absence of a positive result for any of the three laboratory tests that would classify a case as “probable” (see tests a-c above)
AND duration of illness less than two years
AND without routine investigations indicating an alternative diagnosis.

Iatrogenic CJD

Progressive cerebellar syndrome in a recipient of human cadaveric-derived pituitary hormone; or sporadic CJD with a recognized exposure risk, e.g., antecedent neurosurgery with dura mater implantation.

Familial CJD

Definite or probable CJD plus definite or probable CJD in a first degree relative; and/or Neuropsychiatric disorder plus disease-specific PrP gene mutation.

References:

Intern Emerg Med. 2016 Mar;11(2):281-3.

https://www.cdc.gov/prions/cjd/diagnostic-criteria.html