Variant Creutzfeldt–Jakob disease: the first confirmed case from Portugal shows early onset, long duration and unusual pathology
C Barbot1, L Castro2, C Oliveira3, S Carpenter2 + Author Affiliations
1Department of Neuropaediatrics, Hospital Maria Pia, Porto, Portugal 2Anatomical Pathology Service, Hospital S João, Porto, Portugal 3Neurochemistry Laboratory, Department of Neurology, Hospitals of the University of Coimbra, Coimbra, Portugal Correspondence to Dr S Carpenter, Anatomic Pathology Service, Hospital São João, Alamêda Professor Hernani Monteiro, 4202-451 Porto, Portugal; firstname.lastname@example.org Received 2 October 2008 Revised 14 February 2009 Accepted 20 February 2009
We present clinical and autopsy findings in the first case of variant Creutzfeldt–Jakob disease diagnosed and confirmed in Portugal. Onset was at 11 years, the earliest onset reported, and the course (32 months) relatively long. Western blot showed protease resistant prion protein, mainly of type 4 (2B) isoform. The cerebral cortex revealed severe spongiform change with numerous amyloid plaques, which did not fit the definition of florid plaques. In the striatum, spongiform change was limited but the extracellular space was dilated. Other reports have found marked spongiform change in the striatum and little in the cortex. Massive neuronal loss, in excess of what has been described, was found in the thalamus and pontine grey. The cerebellum showed, as expected, severe loss of granule cells, moderate loss of Purkinje cells and marked immunopositivity for the prion protein. Differences between our findings and previous ones probably result from the patient’s long survival.