Abstracts

Rationale: To present an unusual case of CJD presenting as EPC; CJD does not usually present in this manner Methods: Case report Results: CJD is a rapidly progressive prion-mediated neurodegenerative disorder. Although often presenting with diffuse clinical features, focal presentations are well known. Although cortical myoclonus is a hallmark, other seizure types are less common, generally occurring in later stages. In 3 % of cases, seizures are the presenting symptom, CJD presenting as epilepsia partialis continua (EPC) is limited to six prior case reports. Case: A 66-year-old woman was transferred to the Mayo Clinic St. Mary's Hospital neurology service for a 3-month history of progressive gait instability, chorea, left upper extremity alien limb phenomenon and continuous left upper extremity jerking. Treatment with levetiracetam was unsuccessful. Video-EEG monitoring showed continuous focal seizure activity originating from the right centroparietal region. Focal periodic sharp wave discharges corresponded to left upper extremity clonic jerks recorded using a surface EMG electrode. Outside MRI showed subtle increased diffusion signal in the caudate heads bilaterally, cortex of the superior right cerebral hemisphere, and bilateral lentiform nuclei. Repeat MRI 1 month later showed progression of the increased diffusion signal most prominent in the right parietal lobe and right insular cortex. Examination of cerebrospinal fluid showed normal cell count, glucose and protein and negative inflammatory markers. Neuron specific enolase was significantly elevated at 256 ng/mL (normal < 15 ng/mL) and 14-3-3 protein was elevated at 2.0 ng/mL (normal < 1.5 ng/mL). Treatment with high dose phenytoin was unsuccessful. Initiation of clonazepam led to a decrease in myoclonic jerking. The patient passed away 2 weeks later. Autopsy findings were consistent with CJD. Conclusions: CJD is an uncommon cause of EPC but should be included in the differential diagnosis. Recognition of this diagnostic possibility in this particular case led to diagnostic verification through CSF, which prevented fruitless trials of additional AEDs and potentially an unnecessary brain biopsy. In this case and in all previously reported cases, the patients' disease progressed especially rapidly, suggesting that EPC may predict an especially poor prognosis for this disease.