Abstracts

To describe a rare manifestation of sporadic Creutzfeld-Jacob Disease (CJD) presenting with non-convulsive status epilepticus and receptive aphasia. CJD typically presents as a rapidly progressive dementia often accompanied with myoclonus. Typical EEG findings consist of generalized and symmetric periodic sharp waves recurring at 0.5-2.0 Hz. Isolated cases of aphasia have been described in CJD, but aphasic status epilepticus has not.
The patient was a 26 year old man whose initial symptoms consisted of subtle cognitive changes manifested by making spelling errors in emails to his friend. Over the subsequent 3 weeks, he had a rapid detoriation manifested by forgetfulness, confusion, and difficulty performing simple tasks and was brought to the hospital by his parents. On admission, his examination significant for a Wernicke type aphasia with an otherwise normal neurologic examination.
EEG was diagnostic of partial non-convulsive status epilepticus of left hemispheric onset. Several anticonvulsants were tried including oxcarbazepine, levetiracetam, phenobarbital, topiramate, phenytoin and valproic acid. The status was refractory to medical treatment and the patient required midazolam coma. Following midazolam taper, the EEG was characterized by PLEDs over the left hemisphere with occasional electrographic seizure activity. At times the left hemispheric PLEDs evolved to BIPEDs, maximal over the left hemisphere. A brain biopsy was consistent with a spongiform encephalopathy. Quinacrine, an experimental therapy for CJD was administered but had no effect on the EEG or the clinical course. The patient was discharged to hospice care and died two and a half months after his initial presentation. Autopsy revealed sporadic CJD, MMII subtype.
CJD can present with a variety of signs and symptoms. Our patient is unique in that he presented with non-convulsive status epilepticus and a Wernicke[rsquo]s aphasia. Both of these entities are exceedingly rare presentations of CJD and never before has a patient been described with both of these findings. In patients with unexplained status epilepticus or progressive aphasia, CJD should be considered in the differential diagnosis.