Abstract Details

Title Sporadic Creutzfeld Jakob Disease in a 33 Year old Male with Prior Cerebral Instrumentation

Topic Infections/AIDS/Prion Disease

Presentation(s) P06 - (-)

Poster/Presentation
Number 195

Objective

Background BACKGROUND: CJD is a transmissible spongiform encephalopathy caused by accumulation of abnormal prion proteins in the brain. About 85% of cases are sporadic CJD (sCJD) with an unknown mechanism of transmission. The median age of onset for sCJD is 60. Over 400 cases of transmission via medical procedure have been identified worldwide. However only 6 via surgical instrumentation and none since the 1980s. A case control study comparing 753 sCJD patients and 210 controls found no difference in rates of neurosurgery.

Design/Methods DESIGN/METHODS: Case report.

Results RESULTS: A 33 year old male with ventriculo-peritoneal shunt placed at age 11 for hydrocephalus of unknown cause experienced progressive deficits over 3 months. Right arm paresthesias and myoclonus gradually spread to all limbs. MRI brain and c-spine were normal. CSF studies showed elevated protein. ESR, B12/MMA, folate, TSH, copper, ceruloplasmin, Lyme and RPR were all normal. He rapidly developed ataxia, aphasia and confusion. The patient was admitted for further evaluation. Family history was noncontributory. He took no medications. He did not smoke, drink or take drugs. He traveled to Mexico 3 years prior and England in 2002. Repeat DWI MRI showed shunt artifact and asymmetrical cortical ribbon hyperintensity. EEG showed generalized slowing and tri-phasic waveforms. CSF 14-3-3 was positive and Tau was elevated at 14,738 pg/mL (<1150). A diagnosis of probable CJD was made and the patient was discharged to hospice. On autopsy, tissue was transmitted to the National Prion Disease Pathology Surveillance Center in Cleveland. Results were consistent with sCJD.

Conclusions CONCLUSIONS: This is an unusual presentation of sCJD as the patient is young. Although often considered as a cause of transmission of sCJD, surgical instrumentation is exceedingly rare. It is unlikely that this patient's shunt placement was the source of his prion disease.

Authors/Disclosures
Keiran Tuck, MD PRESENTER	No disclosure on file
Michele Mass, MD	No disclosure on file
Sandra E. Black, MD, FAAN (Sunnybrook Health Science Center)	Dr. Black has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Hoffmann-La Roche. Dr. Black has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Black has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Hoffmann-La Roche. Dr. Black has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Black has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Eisai Limited . Dr. Black has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Eli Lilly. Dr. Black has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Biogen. The institution of Dr. Black has received research support from Hoffmann-La Roche. The institution of Dr. Black has received research support from Biogen. The institution of Dr. Black has received research support from GE Healthcare. The institution of Dr. Black has received research support from Eli Lilly. The institution of Dr. Black has received research support from Genentech. The institution of Dr. Black has received research support from NovoNordisk. The institution of Dr. Black has received research support from UCB Biopharma. The institution of Dr. Black has received research support from Alkahest Inc. The institution of Dr. Black has received research support from University of Southern California - AHEAD 3-45 Study.
Sandra E. Black, MD, FAAN (Sunnybrook Health Science Center)	Dr. Black has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Hoffmann-La Roche. Dr. Black has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Black has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Hoffmann-La Roche. Dr. Black has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Black has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Eisai Limited . Dr. Black has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Eli Lilly. Dr. Black has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Biogen. The institution of Dr. Black has received research support from Hoffmann-La Roche. The institution of Dr. Black has received research support from Biogen. The institution of Dr. Black has received research support from GE Healthcare. The institution of Dr. Black has received research support from Eli Lilly. The institution of Dr. Black has received research support from Genentech. The institution of Dr. Black has received research support from NovoNordisk. The institution of Dr. Black has received research support from UCB Biopharma. The institution of Dr. Black has received research support from Alkahest Inc. The institution of Dr. Black has received research support from University of Southern California - AHEAD 3-45 Study.
Michael S. Okun, MD, FAAN (University of Florida)	Dr. Okun has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for NIH. Dr. Okun has received personal compensation in the range of $10,000-$49,999 for serving as an officer or member of the Board of Directors for Parkinson's Foundation. Dr. Okun has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for JAMA Neurology. Dr. Okun has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for NEJM Journal Watch. The institution of Dr. Okun has received research support from NIH. The institution of Dr. Okun has received research support from Parkinson's Foundation. The institution of Dr. Okun has received research support from Tourette Association of America. The institution of Dr. Okun has received research support from Michael J Fox. Dr. Okun has received publishing royalties from a publication relating to health care.

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