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  • Title: Brain biopsy in patients with suspected Creutzfeldt-Jakob disease.
    Author: Heinemann U, Krasnianski A, Meissner B, Kallenberg K, Kretzschmar HA, Schulz-Schaeffer W, Zerr I.
    Journal: J Neurosurg; 2008 Oct; 109(4):735-41. PubMed ID: 18826363.
    Abstract:
    OBJECT: Creutzfeldt-Jakob disease (CJD) is a rare neurodegenerative disorder with diagnostic criteria defined as a combination of clinical symptoms, electroencephalography findings, cerebrospinal fluid (CSF) analysis, and MR imaging results. Special subtypes are known to present with an atypical course and test findings that can complicate the clinical diagnosis. In such patients a brain biopsy can support the clinical approach. METHODS: The authors studied the records on 26 brain biopsies conducted in patients with suspected CJD who had been referred to the CJD Surveillance Unit in Germany between 1993 and 2005. RESULTS: Of the 26 included patients, 11 suffered from neuropathologically confirmed CJD, which in 5 cases had been deemed clinically "probable" and in 2 had been deemed "possible." The disease in the remaining 4 patients had been categorized as "other" prior to neuropathological confirmation of CJD. The results of 15 brain biopsies showed no features of prion disease. None of these 15 patients had received a probable diagnosis of CJD, 4 had a possible diagnosis, and 11 had received a diagnosis of "other." Three of the cases classified as other and none of those with CJD presented with pleocytosis in the CSF. In 73% of the other cases, biopsy sampling did not reveal any results characteristic of CJD but did not provide specific findings on which to base a differential diagnosis. Autopsy confirmed the biopsy diagnosis of CJD in all cases, and additionally confirmed that CJD was not present in 3 patients who had nondiagnostic biopsy results. CONCLUSIONS: Biopsy sampling may be helpful in the diagnostic approach to rare cases of dementia for which a reliable diagnosis cannot be established on the basis of clinical symptoms, CSF parameters, electroencephalography, and MR imaging results.
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