Affiliations: Neurology Department, Hospital de São Marcos,
Braga, Portugal | Neuroradiology Department, Hospital de São Marcos,
Braga, Portugal | Neurochemistry Laboratory, Hospitais da Universidade
de Coimbra, Coimbra, Portugal | Neurology Department, Hospitais da Universidade de
Coimbra, Coimbra, Portugal | Neurosurgery Department, Hospital de São Marcos,
Braga, Portugal | Pathology Department, Hospital de São João,
Porto, Portugal
Note: [] Corresponding author: Álvaro Alexandre Machado Salgado,
Hospital de São Marcos, Largo Carlos Amarante, Apartado 2242, 4701-Braga,
Portugal. Tel.: +351 252 209 163; Fax: +351 253 209 080; E-mail:
[email protected]
Abstract: A 47-year-old woman was seen for progressive behavioural and
cognitive disturbances slowly evolving over a 1-year period. Neuropsychological
evaluation disclosed moderate to severe impairment of all cortical functions.
Besides this no other clinical abnormality was found. MRI diffusion weighted
imaging disclosed hyperintense cortical lesions in a ribbon-like fashion, with
restricted diffusivity. EEG showed no periodic sharp waves and CSF examination
was normal, including protein 14.3.3. She was heterozygote on codon 129. Her
cognitive function continued to decline and she was readmitted for further
investigation at the 24th month of disease. Again no ataxia or involuntary
movements were observed. MRI disclosed widespread hyperintense lesions over the
entire cortex and, for the first time, also caudato-putaminal hyperintensity in
T2-weighted images. EEG again failed to show periodic activity. Stereotactic
biopsy disclosed moderate spongiform changes, astrocytosis and perivacuolar
staining with prion-directed antibodies. Western blot analysis revealed prion
type 2 mobility pattern. We discuss the clinical significance of this case: as
dementia was the sole finding, and this was slowly-evolving over a 2-year
period, MRI findings were the key factor suggesting a prion disease in a woman
that otherwise would probably be diagnosed with a primary degenerative
dementia.
