1. CREUTZFELDT JAKOB: DESCRIPTION OF AN ATYPICAL CASE.
R. Gentile*, D. Farinini*, G. Ribizzi*, D. Arecco*, D. Rizzi*, A. Ferrari°, G.A. Ottonello°, C. Serrati
*Neurological Unit, Department of Neuroscience AOU San Martino-IST - Largo R. Benzi 10 – Genova, °Neurophysiological Unit, Department of Neuroscience AOU San Martino-IST - Largo R. Benzi 10 – Genova,
Introduction: Creutzfeldt-Jakob is a transmissible human spongiform encephalopathy which may be familial, iatrogenic, or sporadic. The classic clinical features include a rapidly progressive dementia with clear unconsciousness until the terminal stages of the disease.
In published cases seizures occur in fewer than 20% of patients(1), but very rarely as presentation symptom of the disease.
Patient description: A 64-year old patient presented with a focal partial epileptic crisis in July 2012, whom the clinical picture and EEG were suggestive of the presence of adversive seizures. The EEG showed intercritical activity in the frontal area contralateral to the site of the crisis (fig 1a-1b). He subsequently developed memory loss, temporo-spatial disorientation and confusion . The routinary examination for dementia showed a light decay by neuropsychological testing, a light atrophy on MRI and a SPECT pattern possibly suggestive for Alzheimer disease (AD) (bilateral hypofixation cortical temporal, parietal, and gyrus cingoli; light frontal and orbitofrontal hypofixation, normal fixation of the basal ganglia) (fig.2) . The clinical course was only slight worsening for six months, when he rapidly decayed developing severe dementia, with apraxia, agnosia, aphasia, dysphagia, myoclonic jerks EEG supported with lateralization to the hemisphere affected by the early observed epileptiform interictal activity. Liquor examination showed very high tau protein and PrP was positive confirming the clinical hypothesis of Creutzfeldt Jakob Disease, supported by EEG (fig. 1c)
Discussion: this case is atypical because at the beginning the course was mild and only slightly
pejorative, he presented with focal epileptic discharges and the SPECT was suggestive for AD (2).
CJD presenting as a seizure disorder is very rare It is possible that the manifestation of seizures
and CJD were coincidental (3), but the initial prevalence of the typical pseudoperiodic pattern, coincident with the site of epileptiform intercritical activity, observed in early phases, support the view that the epilepsy may be attributable to CJD
Conclusions: all patients developing dementia need close follow up, especially in the first year of disease, in order to identify atypical cases. The presented case illustrate a previously rarely recognised presentation of Creutzfeldt-Jakob disease, namely focal seizure of presumed frontal origin.
Fig 1a
Fig 1b
Fig 2
Fig 1c
References
1. Labar & Harden . Infection and Inflammatory Diseases. In J Engel Jr, TA Pedley (eds), Epilepsy: a Comprehensive Textbook. Philadelphia: Lipinkott-Raven 1997,
2. Mazzoleni et al. 123I- ioflupane SPECT scan in a patient with Creutzfeld-Jacob Disease, Acta Neurol.Belg. 2010, 110,
3. Greenberg & McCarty Periodic lateralised epileptiform discharges in Creutzfeldt-Jakob disease. Neurology 1981, 31, 362–363.
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