A Case of Familial Creutzfeldt-Jakob Disease Presenting with Dry Cough

ABSTRACT:Background:Clinical diagnosis of Creutzfeldt-Jakob disease (CJD) is based on the classical triad of rapidly progressive dementia, myoclonus and abnormal EEG. The 200k mutation within the gene encoding PrP, located on the short arm of chromosome 20, accounts for more than 70% of families with CJD worldwide.Case Report:Herein, we report a patient who developed persistent dry cough and classical signs of CJD, including severe cognitive decline, cerebellar signs, and myoclonic jerks, leading to death a few weeks after disease onset. Mutation screening showed that he had the 200k point mutation in the PRNP gene. His mother had died twenty years earlier with neuropathologically confirmed CJD. She had presented a rapidly progressive ataxia with myoclonus, dementia, visual hallucinations, and the same persistent dry cough.Conclusions:The clinical presentation of this familial CJD case with persistent dry cough is quite unusual. Therefore, a neurological etiology should be sought when confronted with an unexplained persistent cough.

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High phenotypic variability in Gerstmann-Sträussler-Scheinker disease

Arquivos de Neuro-Psiquiatria ◽

10.1590/0004-282x20170049 ◽

2017 ◽

Vol 75 (6) ◽

pp. 331-338 ◽

Cited By ~ 4

Author(s):

Jerusa Smid ◽

Adalberto Studart Neto ◽

Michele Christine Landemberger ◽

Cleiton Fagundes Machado ◽

Paulo Ribeiro Nóbrega ◽

...

Keyword(s):

Disease Duration ◽

Clinical Presentation ◽

Phenotypic Variability ◽

Age At Onset ◽

Disease Onset ◽

Apoe Genotype ◽

Common Mutation ◽

Progressive Dementia ◽

Mother And Daughter ◽

Codon 129

ABSTRACT Gerstmann-Sträussler-Scheinker is a genetic prion disease and the most common mutation is p.Pro102Leu. We report clinical, molecular and neuropathological data of seven individuals, belonging to two unrelated Brazilian kindreds, carrying the p.Pro102Leu. Marked differences among patients were observed regarding age at onset, disease duration and clinical presentation. In the first kindred, two patients had rapidly progressive dementia and three exhibited predominantly ataxic phenotypes with variable ages of onset and disease duration. In this family, age at disease onset in the mother and daughter differed by 39 years. In the second kindred, different phenotypes were also reported and earlier ages of onset were associated with 129 heterozygosis. No differences were associated with apoE genotype. In these kindreds, the codon 129 polymorphism could not explain the clinical variability and 129 heterozygosis was associated with earlier disease onset. Neuropathological examination in two patients confirmed the presence of typical plaques and PrPsc immunopositivity.

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Case Report: Creutzfeld- Jakob disease, onset with ataxia and absence of dementia

10.5327/1516-3180.614 ◽

2021 ◽

Author(s):

Lucas de Oliveira Pinto Bertoldi ◽

Beatriz Cassarotti ◽

Isabela Silva Souza ◽

Alana Strucker Barbosa ◽

Eduardo Silveira Marques Branco ◽

...

Keyword(s):

Case Report ◽

Cognitive Deficit ◽

Disease Onset ◽

Abdominal Distension ◽

Initial Assessment ◽

Progressive Dementia ◽

Mri Scan ◽

History Of ◽

Jakob Disease ◽

Low Incidence

Context: Creutzfeld Jakob disease, a rare prion disease that leads to rapidly progressive dementia and movement disorders, through its pathophysiology will determine brain damage. Regardless of the cause, the course of the disease will be rapid and will invariably lead to death. Objective: The reason why the case is described is due to the low incidence of this disease and its unusual course in the case described. Case report: A 67-year-old male, had a personal history of smoking and obesity . Referred to our service due to sudden ataxia, in the presence of an unchanged MRI scan. The first sympton started when he woke up with a dizzying and inability to walk due to imbalance. In the initial assessment, the patient had appendicular ataxia in all 4 limbs, with an examination of his mental status without changes. New head MRI exam showing alterations compatible with CJD. Interned with hipotheses diagnoses of Wilson’s disease, encephalitis or CJD, he developed abdominal distension with surgical need and immediately after the procedure he already presented a comatose, spastic, and myoclonic condition compatible with the final phase of CJD, later protein 14-3-3 was found in the CSF. Conclusions: CJD, usually presents with rapidly progressive cognitive deficit associated with movement disorder. In the case presented, initially there was no change in cognition and after an urgent surgical procedure, there was an important advance in a shorter than expected period for the disease.

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An Evaluation of Rapidly Progressive Dementia Culminating in a Diagnosis of Creutzfeldt–Jakob Disease

Case Reports in Infectious Diseases ◽

10.1155/2018/2374179 ◽

2018 ◽

Vol 2018 ◽

pp. 1-4

Author(s):

Parmvir Parmar ◽

Curtis L. Cooper ◽

Daniel Kobewka

Keyword(s):

Differential Diagnosis ◽

Cognitive Deficits ◽

Autoimmune Encephalitis ◽

Illustrative Case ◽

Visual Hallucinations ◽

Progressive Dementia ◽

History Of ◽

Jakob Disease ◽

Clinical Description ◽

Sporadic Cjd

Rapidly progressive dementia is a curious and elusive clinical description of a pattern of cognitive deficits that progresses faster than typical dementia syndromes. The differential diagnosis and clinical workup for rapidly progressive dementia are quite extensive and involve searching for infectious, inflammatory, autoimmune, neoplastic, metabolic, and neurodegenerative causes. We present the case of a previously highly functional 76-year-old individual who presented with a 6-month history of rapidly progressive dementia. His most prominent symptoms were cognitive impairment, aphasia, visual hallucinations, and ataxia. Following an extensive battery of tests in hospital, the differential diagnosis remained probable CJD versus autoimmune encephalitis. He clinically deteriorated and progressed to akinetic mutism and myoclonus. He passed away 8 weeks after his initial presentation to hospital, and an autopsy confirmed a diagnosis of sporadic CJD. We use this illustrative case as a framework to discuss the clinical and diagnostic considerations in the workup for rapidly progressive dementia. We also discuss CJD and autoimmune encephalitis, the two main diagnostic possibilities in our patient, in more detail.

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Sporadic Creutzfeldt-Jakob Disease: A Retrospective Analysis of 104 Cases

European Neurology ◽

10.1159/000507189 ◽

2020 ◽

Vol 83 (1) ◽

pp. 65-72

Author(s):

Chang Qi ◽

Jia-Tang Zhang ◽

Wei Zhao ◽

Xiao-Wei Xing ◽

Sheng-Yuan Yu

Keyword(s):

Retrospective Analysis ◽

Cerebellar Ataxia ◽

Disease Onset ◽

Protein Detection ◽

Initial Symptom ◽

Progressive Dementia ◽

Brain Pet ◽

Jakob Disease ◽

Pet Scans ◽

Visual Disturbances

Background: Sporadic Creutzfeldt-Jakob disease (sCJD) is an extremely rare fatal and infectious neurodegenerative brain disorder characterized by rapidly progressive dementia, cerebellar ataxia, and visual disturbances. This article summarizes the retrospective analysis of 104 sCJD patients in the First Medical Center of Chinese PLA General Hospital from 2003 to 2019. Methods: A retrospective analysis of the medical records of the 104 patients diagnosed with sCJD was performed from the aspects of demographic data, clinical manifestations, laboratory examinations, cerebrospinal fluid analysis, electroencephalograms (EEGs), diffusion-weighted imaging (DWI) scans, positron emission tomography (PET) scans, and prion protein gene mutations. Results: In the 104 sCJD patients, pathological evidence of a spongiform change was found in 11 patients, while the remaining 93 patients were probable sCJD. The 104 patients included 57 males and 47 females, with the age of onset ranging from 29 to 82 (mean: 58, median: 60) years. The time from disease onset to death ranged from 1 to 36 months. Most of the patients died 7–12 months after the onset of sCJD. In most patients, rapidly progressive dementia appeared as the initial symptom, followed by cerebellar ataxia, visual disturbances, and neurobehavioral disorders. Most patients’ DWI images showed symmetric or asymmetric hyperintensity in the cortex. In terms of EEGs, 38.2% of the patients had periodic sharp wave complexes. The sensitivity of 14-3-3 protein detection was 34.1%. The brain PET scans of 50 patients with sCJD presented 96% sensitivity for the diagnosis of sCJD. Conclusions: This study indicated that sCJD occurred at an early age in patients in China. The sensitivity of 14-3-3 protein detection was significantly low, but brain PET was highly sensitive in the diagnosis of sCJD.

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Magnetic ressonance imaging in the diagnosis of Creutzfeldt-Jakob disease: report of two cases

Dementia & Neuropsychologia ◽

10.1590/1980-57642015dn94000424 ◽

2015 ◽

Vol 9 (4) ◽

pp. 424-427

Author(s):

Alan Peres Valente ◽

Paula da Cunha Pinho ◽

Leandro Tavares Lucato

Keyword(s):

Magnetic Resonance Imaging ◽

Basal Ganglia ◽

Magnetic Resonance ◽

Clinical Presentation ◽

Rare Condition ◽

Resonance Imaging ◽

Progressive Dementia ◽

Jakob Disease ◽

Magnetic Resonance Imaging Mri ◽

Aids Diagnosis

ABSTRACT Creutzfeldt-Jacob disease (CJD) is a rare condition caused by a pathogenic prion protein that evolves with rapidly progressive dementia and death. The clinical presentation may sometimes be misleading. Magnetic Resonance Imaging (MRI) aids diagnosis with patterns that can guide or confirm clinical hypotheses. Two cases of rapidly progressive dementia with ataxia, myoclonus and restricted diffusion on MRI in cortical/basal ganglia are presented to draw attention to CJD.

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Creutzfeldt-Jakob Disease Presenting with Dementia and Mimic a Stroke During One Year: Case Report and Review of Literatures

Galen Medical Journal ◽

10.31661/gmj.v8i0.1357 ◽

2019 ◽

Vol 8 ◽

pp. e1357

Author(s):

Alireza Vakilian ◽

Mohaddaseh Fekri ◽

Habib Farahmand

Keyword(s):

Differential Diagnosis ◽

Case Report ◽

Rare Disease ◽

Clinical Manifestation ◽

Clinical Presentation ◽

Chief Complaint ◽

The Other ◽

Progressive Dementia ◽

Jakob Disease ◽

One Year

Background: Creutzfeldt-Jakob disease (CJD) is a progressive and fatal prion disease in human and its annual incidence is estimated one per million. Sporadic form of CJD is the most common form of the disease that involved 85% of cases. Case Report: We presented two cases of CJD with the different clinical presentation; a 58-year-old woman who referred with amnesia, depression and a 59-year-old woman with ataxia as her chief complaint. Based on the findings and roled-out the other differential diagnosis, the CJD was confirmed. Both of them died before 12 months after diagnosis. Conclusion: Although CJD is a rare disease with different clinical manifestation, it is considered as one the differential diagnosis of progressive dementia.[GMJ.2019;8:e1357]

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Creutzfeldt-Jakob Disease Presenting with Dementia and Mimic a Stroke During One Year: Case Report and Review of Literatures

10.31661/gmj.v0i0.1357 ◽

2019 ◽

Vol 8 ◽

pp. 1357

Author(s):

Alireza Vakilian ◽

Mohaddaseh Fekri ◽

Habib Farahmand

Keyword(s):

Differential Diagnosis ◽

Case Report ◽

Rare Disease ◽

Clinical Manifestation ◽

Clinical Presentation ◽

Chief Complaint ◽

The Other ◽

Progressive Dementia ◽

Jakob Disease ◽

One Year

Background: Creutzfeldt-Jakob disease (CJD) is a progressive and fatal prion disease in human and its annual incidence is estimated one per million. Sporadic form of CJD is the most common form of the disease that involved 85% of cases. Case Report: We presented two cases of CJD with the different clinical presentation; a 58-year-old woman who referred with amnesia, depression and a 59-year-old woman with ataxia as her chief complaint. Based on the findings and rolled-out the other differential diagnosis, the CJD was confirmed. Both of them died before 12 months after diagnosis. Conclusion: Although CJD is a rare disease with different clinical manifestation, it is considered as one the differential diagnosis of progressive dementia.[GMJ.2019;inpress;e1357]

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Creutzfeldt-Jakob Disease Presenting as Expressive Aphasia and Nonconvulsive Status Epilepticus

Case Reports in Critical Care ◽

10.1155/2018/5053175 ◽

2018 ◽

Vol 2018 ◽

pp. 1-9 ◽

Cited By ~ 5

Author(s):

Hafiz B. Mahboob ◽

Kazi H. Kaokaf ◽

Jeremy M. Gonda

Keyword(s):

Status Epilepticus ◽

Clinical Presentation ◽

Prion Diseases ◽

Epileptiform Activity ◽

Rare Condition ◽

Nonconvulsive Status Epilepticus ◽

Mri Findings ◽

Progressive Dementia ◽

Csf Analysis ◽

Jakob Disease

Creutzfeldt-Jakob disease (CJD), the most common form of human prion diseases, is a fatal condition with a mortality rate reaching 85% within one year of clinical presentation. CJD is characterized by rapidly progressive neurological deterioration in combination with typical electroencephalography (EEG) and magnetic resonance imaging (MRI) findings and positive cerebrospinal spinal fluid (CSF) analysis for 14-3-3 proteins. Unfortunately, CJD can have atypical clinical and radiological presentation in approximately 10% of cases, thus making the diagnosis often challenging. We report a rare clinical presentation of sporadic CJD (sCJD) with combination of both expressive aphasia and nonconvulsive status epilepticus. This patient presented with slurred speech, confusion, myoclonus, headaches, and vertigo and succumbed to his disease within ten weeks of initial onset of his symptoms. He had a normal initial diagnostic workup, but subsequent workup initiated due to persistent clinical deterioration revealed CJD with typical MRI, EEG, and CSF findings. Other causes of rapidly progressive dementia and encephalopathy were ruled out. Though a rare condition, we recommend consideration of CJD on patients with expressive aphasia, progressive unexplained neurocognitive decline, and refractory epileptiform activity seen on EEG. Frequent reimaging (MRI, video EEGs) and CSF examination might help diagnose this fatal condition earlier.

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Diagnostic challenge of rapidly progressing sporadic Creutzfeldt-Jakob disease

BMJ Case Reports ◽

10.1136/bcr-2019-230535 ◽

2019 ◽

Vol 12 (9) ◽

pp. e230535 ◽

Cited By ~ 1

Author(s):

Gi Tae Kwon ◽

Min Sung Kwon

Keyword(s):

Disease Onset ◽

Memory Loss ◽

Cerebral Atrophy ◽

Sudden Onset ◽

Postmortem Brain ◽

Diagnostic Tools ◽

Diagnostic Challenge ◽

Progressive Dementia ◽

Diagnostic Dilemma ◽

Jakob Disease

Antemortem assessment of sporadic Creutzfeldt-Jakob disease (sCJD) can be significantly hampered due to its rarity, low index of clinical suspicion and its non-specific clinical features. We present an atypical case of definitive sCJD. The patient died within 5 weeks of the disease onset. This unusually short duration of disease presented a significant diagnostic dilemma. The patient presented with 2-week history of sudden-onset cognitive decline, memory loss, aphasia and ataxia. MRI Diffusion-weighted sequences revealed cortical ribboning sign without cerebral atrophy. Protein 14-3-3 from cerebrospinal fluid (CSF) was detected, and postmortem brain autopsy confirmed the diagnosis of sCJD. This case underscores the importance of considering CJD as a potential diagnosis for rapidly progressive dementia. Serology tests, EEG, MRI and CSF study are invaluable diagnostic tools when assessing for sCJD. Appropriate use of those diagnostic tests, along with a detailed clinical examination, can successfully and promptly exclude other differential diagnoses and confirm sCJD.

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Cerebrotendinous Xanthomatosis: diversity of presentation and refining treatment with chenodeoxycholic acid

Cerebellum & Ataxias ◽

10.1186/s40673-021-00128-2 ◽

2021 ◽

Vol 8 (1) ◽

Author(s):

Mahjabin Islam ◽

Nigel Hoggard ◽

Marios Hadjivassiliou

Keyword(s):

Chenodeoxycholic Acid ◽

Clinical Characteristics ◽

Spastic Paraparesis ◽

Acid Synthesis ◽

Bile Acid Synthesis ◽

Cerebrotendinous Xanthomatosis ◽

Juvenile Onset ◽

Progressive Ataxia ◽

Classical Triad ◽

High Index Of Suspicion

Abstract Background Cerebrotendinous xanthomatosis (CTX) is a rare but treatable neurometabolic disorder of lipid storage and bile acid synthesis. Whilst CTX is said to present with the classic triad of juvenile onset cataracts, tendon xanthomata and progressive ataxia, the diversity of presentation can be such that the diagnosis may be substantially delayed resulting in permanent neurological disability. Methods A retrospective review of the clinical characteristics and imaging findings of 4 patients with CTX presenting to the Sheffield Ataxia Centre over a period of 25 years. Results Although CTX-related symptoms were present from childhood, the median age at diagnosis was 39 years. Only 1 of the 4 cases had tendon xanthomata, only 2 cases had juvenile onset cataracts and 3 had progressive ataxia with one patient presenting with spastic paraparesis. Serum cholestanol was elevated in all 4 patients, proving to be a reliable diagnostic tool. In addition, cholestanol was raised in the CSF of 2 patients who underwent lumbar puncture. Despite treatment with chenodeoxycholic acid (CDCA) and normalization of serum cholestanol, CSF cholestanol remained high in one patient, necessitating increase in the dose of CDCA. Further adjustments to the dose of CDCA in the patient with raised CSF cholestanol resulted in slowing of progression. Two of the patients who have had the disease for the longest continued to progress, one subsequently dying from pneumonia. Conclusion A high index of suspicion for CTX, even in the absence of the classical triad is essential in reaching such diagnosis. The earlier the diagnosis and treatment, the better the outcome.

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