We present the second variant Creutzfeldt-Jacob patient in the same district of Northwest Portugal. A 14-year-old previously healthy girl started unexplained pain in the left leg along with psychiatric disturbances, followed shortly by progressive cognitive impairment, ataxia and generalized choreoatethosis. Neuropsychological assessment revealed severe frontal and medial temporal dysfunction, the posterior cortices being spared. EEG was normal. CSF 14.3.3 protein was slightly positive. MRI showed the «hockey stick» sign and hyperintensities in periaquedutal gray matter and in right parietal cortex, the last with restriction to water molecule movement. SPECT revealed perfusion defects in left frontotemporal and right parietal regions. PRNP gene sequencing showed no mutations, the patient being homozygous to methionine in codon 129. Five months after onset immunocytochemical and immunoblotting analysis confirmed deposition of prion protein and PrP4t electrophoretic pattern. The patient never travelled outside Portugal or received blood transfusions. She had surgical herniorrhafy in 1998 (when catgut was used) and 2003. This is the second case in Portugal in a 2-year period and 20 Km apart from each other, with no known common exposure besides cow meat ingestion. We discuss these case peculiarities and underline its epidemiological significance.
- Human Prion Disease
- Variant Creutzfeldt Jacob Disease
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