164 Dementia, a Familial Affair

Abstract Background In Ireland, there are approximately 55,000 cases of dementia. One of the rare causes of dementia is Creutzfeldt-Jakob disease (CJD), affecting one person per million each year worldwide. It is a rapidly progressive degenerative fatal disorder with an estimated mortality of 70% within one year. In this case report we present a rare case of possible familial-CJD which presented initially as a stroke mimic. Methods A 64-year old female referred via GP with abnormal left arm athetoid movements and in-coordination. MRI brain demonstrated a small sub-acute hyper-intense lesion in the right basal ganglia on diffusion weighted imaging. Her symptoms were atypical for acute stroke, however an alternative cause was not evident. She was monitored closely with early supported discharge. However the left sided athetoid movements worsened and were associated with intermittent myoclonic jerks and dystonic posturing. She was reassessed with a wider differential including focal impaired seizures, Rasmussen’s encephalitis, and CJD. EEG showed periodic lateralizing epileptic discharges, however patient failed to show any response to anti-epileptic treatment and her clinical course was one of rapid deterioration. Clinical findings and subsequent MRI findings showed new areas of hyperintensity supporting CJD. Results Ultimately our patient deteriorated rapidly resulting in an akinetic and abulic state, resulting in death. A final diagnosis of sporadic-CJD was made based on rapid progressive deterioration and findings on MRI as well as confirmation on post-mortem brain pathology. A deeper review of family history revealed a sister who had passed away years prior with rapid progressive neurological illness. Her work-up showed clinical signs and EEG findings supporting CJD, however there was no post mortem to confirm her diagnosis. Conclusion This case highlights the importance of genetics shaping phenotypes and that consideration should always be given to a full relevant family history. It also shows a rare case of rapidly progressive dementia confirmed due to CJD with a likely underlying familial predisposition.