FAMILIAL CREUTZFELD JACOB DISEASE: A CASE REPORT

Abstract

Rapidly progressive dementias (RPD) are a heterogeneous group of entities that develop dementia in less than 2 years, progressing in months. Human prion diseases (PrDs) are a rare cause of RPD classified in sporadic (85%), familial (15%) and acquired (5%) with a 100% mortality rate. Clinical presentations include cognitive, behavioral and motor symptoms. The diagnosis is supported by MRI, EEG and CSF findings. The incidence in Buenos Aires is 1,8/1,000,000 and life expectancy 7,8 months. We present a case of Familial Creutzfeldt-Jacob disease (CJDf) due to its atypical presentation and disease course. Female of 58 years presented in December 2013 with headache, inattention and comprehension deficits. She returned in October 2014 with cognitive complaint and a diagnosis of mild cognitive impairment was performed by neuropsychological test. In September 2016 husband claimed worsening of cognitive impairment associated with behavioral symptoms, emotional lability, gait alteration, visual hallucinations and sleep disorders. MRI showed extensive cortical diffusion restriction, neuropsychological test: mild mixed type dementia (MMSE 18/30). RPD studies were performed (normal CSF findings, autoimmune and paraneoplasic panels negative, CRP for virus and Whipple negative). Treatment with immunoglobulin was started. EEG: theta temporal rhythm. Familial history: sister died with similar symptoms the previous year. 14-3-3 protein in CSF positive. Genetic mutation: p.GLu200lys fenotiype: p.Met129Val compatible with CJDf. CJDf should be considered in patients with dementia and family history, even with an atypical presentation, not only to reach the diagnosis, but also to be able to make the appropriate genetic counseling.