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Internal Medicine

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Abstract

Background: The first Creutzfeldt-Jakob disease (CJD) outbreak was in 1996 in the UK, where 10 cases of a new rare neurological disease were reported. CJD continues to be an unclear neurodegenerative disease. The disease is usually higher in the retina and the brain, which in the majority of cases results in neurological symptoms, including rapidly progressing dementia, extrapyramidal signs, myoclonus, and visual symptoms with a mean age of 67. There are 3 groups of human prion disease, sporadic CJD accounts for about 85% of the cases.

Case presentation: A 66-year-old woman who presented with slurred speech and forgetfulness started in March 2020, in September the patient presented right leg limping and gait difficulties which progressed to right arm weakness and stiffness. MRI was read as a stroke. A month later, she lost vision in her right eye and progressive deterioration of her left eye. Later, the patient reported multiple jolts of electricity and sporadic jerking movements that worsened in 3 months. In January, an MRI was repeated and compared to the previous image, it showed patterns more consistent with an autoimmune disease. Lumbar Puncture with CSF analysis was negative for infection, but due to continued deterioration, a third lumbar puncture was performed, with a positive 14-3-3 protein in CSF, but with an EEG showing no clear triphasic waveforms of CJD.

Conclusions: CJD is the most frequent of the human prion diseases, new sporadic CJD cases are found 1 in 1,000,000 individuals every year. No treatment has been identified at the moment, making the course of this disease fatal, with a survival time around the year. It is important to educate the worldwide population in order to attempt an early identification of its different presentations, avoiding unnecessary testing, and mostly focusing on the quality of life in this patient's population.

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Creutzfeldt-Jakob disease, a stroke masquerade case: Case report

Background: The first Creutzfeldt-Jakob disease (CJD) outbreak was in 1996 in the UK, where 10 cases of a new rare neurological disease were reported. CJD continues to be an unclear neurodegenerative disease. The disease is usually higher in the retina and the brain, which in the majority of cases results in neurological symptoms, including rapidly progressing dementia, extrapyramidal signs, myoclonus, and visual symptoms with a mean age of 67. There are 3 groups of human prion disease, sporadic CJD accounts for about 85% of the cases.

Case presentation: A 66-year-old woman who presented with slurred speech and forgetfulness started in March 2020, in September the patient presented right leg limping and gait difficulties which progressed to right arm weakness and stiffness. MRI was read as a stroke. A month later, she lost vision in her right eye and progressive deterioration of her left eye. Later, the patient reported multiple jolts of electricity and sporadic jerking movements that worsened in 3 months. In January, an MRI was repeated and compared to the previous image, it showed patterns more consistent with an autoimmune disease. Lumbar Puncture with CSF analysis was negative for infection, but due to continued deterioration, a third lumbar puncture was performed, with a positive 14-3-3 protein in CSF, but with an EEG showing no clear triphasic waveforms of CJD.

Conclusions: CJD is the most frequent of the human prion diseases, new sporadic CJD cases are found 1 in 1,000,000 individuals every year. No treatment has been identified at the moment, making the course of this disease fatal, with a survival time around the year. It is important to educate the worldwide population in order to attempt an early identification of its different presentations, avoiding unnecessary testing, and mostly focusing on the quality of life in this patient's population.

 

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