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Cureus May 2017Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare and fatal spongiform encephalopathy characterized by rapidly progressive dementia and myoclonus. The rarity of this...
Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare and fatal spongiform encephalopathy characterized by rapidly progressive dementia and myoclonus. The rarity of this disease and varied initial symptoms make the early diagnosis fairly challenging. Here, we present a case initially admitted for confusion and bizarre behaviors. She had acute deterioration of mental status, akinetic mutism, and myoclonus jerks four weeks later. Cerebrospinal fluid (CSF) analysis was positive for protein 14-3-3. Brain magnetic resonance imaging (MRI) showed hyperintensities in the bilateral cortex, basal ganglia, and thalami in diffusion-weighted imaging (DWI). Electroencephalogram (EEG) showed bihemispheric periodic lateralizing epileptiform discharges. The probable diagnosis of sCJD was reached based on the clinical features, characteristic findings in her MRI, the EEG, and a positive 14-3-3 CSF assay. The literature was also reviewed for early diagnosis of sCJD.
PubMed: 28680785
DOI: 10.7759/cureus.1297 -
Revista de Neurologia Jan 2017Akinetic mutism is considered as an alteration of the motivational state of the person, which the patient is unable to initiate verbal or motor responses voluntary, even...
INTRODUCTION
Akinetic mutism is considered as an alteration of the motivational state of the person, which the patient is unable to initiate verbal or motor responses voluntary, even with preserved sensorimotor and surveillance functions.
CASE REPORT
A 43 year-old male involved in a cerebellum arteriovenous fistula complicated with hydrocephalus, who responded dramatically to treatment with bromocriptine.
CONCLUSION
Typically, akinetic mutism is described as a transient surgeries posterior fossa. However, it can also occur after multiple valvular failure in patients with hydrocephalus.
Topics: Adult; Akinetic Mutism; Bromocriptine; Central Nervous System Vascular Malformations; Cerebellum; Cerebral Angiography; Diencephalon; Dopamine Agonists; Emergencies; Equipment Failure; Humans; Hydrocephalus; Intracranial Arteriovenous Malformations; Male; Mesencephalon; Postoperative Complications; Tomography, X-Ray Computed
PubMed: 28075000
DOI: No ID Found -
Insights from the supplementary motor area syndrome in balancing movement initiation and inhibition.Frontiers in Human Neuroscience 2014The supplementary motor area (SMA) syndrome is a characteristic neurosurgical syndrome that can occur after unilateral resection of the SMA. Clinical symptoms may vary...
The supplementary motor area (SMA) syndrome is a characteristic neurosurgical syndrome that can occur after unilateral resection of the SMA. Clinical symptoms may vary from none to a global akinesia, predominantly on the contralateral side, with preserved muscle strength and mutism. A remarkable feature is that these symptoms completely resolve within weeks to months, leaving only a disturbance in alternating bimanual movements. In this review we give an overview of the old and new insights from the SMA syndrome and extrapolate these findings to seemingly unrelated diseases and symptoms such as Parkinson's disease (PD) and tics. Furthermore, we integrate findings from lesion, stimulation and functional imaging studies to provide insight in the motor function of the SMA.
PubMed: 25506324
DOI: 10.3389/fnhum.2014.00960 -
Brain & NeuroRehabilitation Mar 2024Myositis ossificans is uncommon in patients with nontraumatic brain injuries. This report presents a challenging case in which myositis ossificans was diagnosed and...
Myositis ossificans is uncommon in patients with nontraumatic brain injuries. This report presents a challenging case in which myositis ossificans was diagnosed and treated by medical management in a patient who was unable to complain of any symptoms due to akinetic mutism that occurred after nontraumatic subarachnoid hemorrhage. The patient had intermittent high-grade fever, and laboratory tests showed elevated C-reactive protein and D-dimer levels without clinical signs of infection two months after subarachnoid hemorrhage. Lower-extremity venography using computed tomography was performed to rule out deep venous thrombosis. There was no thrombus, but right vastus medialis muscle showed inflammatory change with faint multilayered curvilinear hyperdense rims. The administration of indomethacin helped prevent abnormal bone formation. For the early detection of myositis ossificans, careful observation of clinical presentation and a high index of clinical suspicion is necessary in brain-injured patients. Further, elevated serum inflammatory markers accompanied by elevated alkaline phosphatase can be a critical clue. Early computed tomography helps identify early 'string sign' prior to characteristic ossification. Our report highlights that the myositis ossificans is remediable by early detection and appropriate nonsurgical management.
PubMed: 38585031
DOI: 10.12786/bn.2024.17.e9 -
Diagnostics (Basel, Switzerland) Feb 2024Delayed Post-Hypoxic Leukoencephalopathy (DPHL), or Grinker's myelinopathy, is a syndrome in which extensive changes are seen in the white matter of the cerebral...
Diagnosis of Delayed Post-Hypoxic Leukoencephalopathy (Grinker's Myelinopathy) with MRI Using Divided Subtracted Inversion Recovery (dSIR) Sequences: Time for Reappraisal of the Syndrome?
Delayed Post-Hypoxic Leukoencephalopathy (DPHL), or Grinker's myelinopathy, is a syndrome in which extensive changes are seen in the white matter of the cerebral hemispheres with MRI weeks or months after a hypoxic episode. T-weighted spin echo (T-wSE) and/or T-Fluid Attenuated Inversion Recovery (T-FLAIR) images classically show diffuse hyperintensities in white matter which are thought to be near pathognomonic of the condition. The clinical features include Parkinsonism and akinetic mutism. DPHL is generally regarded as a rare condition. Two cases of DPHL imaged with MRI nine months and two years after probable hypoxic episodes are described. No abnormalities were seen on the T-FLAIR images with MRI, but very extensive changes were seen in the white matter of the cerebral and cerebellar hemisphere on divided Subtraction Inversion Recovery (dSIR) images. dSIR sequences may produce ten times the contrast of conventional inversion recovery (IR) sequences from small changes in T. The clinical findings in both cases were of cognitive impairment without Parkinsonism or akinetic mutism. The classic features of DPHL may only represent the severe end of a spectrum of diseases in white matter following global hypoxic injury to the brain. The condition may be much more common than is generally thought but may not be recognized using conventional clinical and MRI criteria for diagnosis. Reappraisal of the syndrome of DPHL to include clinically less severe cases and to encompass recent advances in MRI is advocated.
PubMed: 38396456
DOI: 10.3390/diagnostics14040418 -
Medicine Feb 2016Sporadic Creutzfeldt-Jakob disease (CJD) is clinically characterized by rapidly progressive dementia combined with other cardinal symptoms, such as myoclonus, visual or...
Sporadic Creutzfeldt-Jakob disease (CJD) is clinically characterized by rapidly progressive dementia combined with other cardinal symptoms, such as myoclonus, visual or cerebellar disturbances, extrapyramidal or pyramidal disturbance, and akinetic mutism. However, as an initial manifestation, focal neurologic deficits other than the aforementioned or nonspecific generalized symptoms may lead to a misdiagnosis or a delayed diagnosis. The authors report a case of 66-year-old male patient with sporadic CJD who had dizziness, gaze-evoked nystagmus (GEN), and other central eye signs (impaired smooth pursuit, saccadic dysmetria) as an initial manifestation without dementia. The central eye signs led us to perform brain magnetic resonance images, which showed abnormal cortical high-signal intensity in both the cerebral and cerebellar hemispheres including the vestibulocerebellum. We reached a presumptive diagnosis of CJD, but the findings did not meet diagnostic criteria for probable CJD at that time. Three weeks after the initial work-ups, the patient presented with typical neurological findings of CJD: rapidly progressive dementia, akinetic mutism, and myoclonus of the left arm. Cerebrospinal fluid was positive for 14-3-3 protein, and electroencephalography showed periodic sharp wave complexes. In this patient, GEN and other central eye signs provided diagnostic clues for CJD. These unusual neurological manifestations may help physicians have a thorough knowledge of early deficits of CJD.
Topics: Aged; Creutzfeldt-Jakob Syndrome; Dizziness; Fatal Outcome; Humans; Male; Nystagmus, Pathologic
PubMed: 26886621
DOI: 10.1097/MD.0000000000002766 -
Prion Mar 2018Gerstmann-Sträussler-Scheinker disease (GSS) with the P102L mutation in PRNP gene is characterized with progressive cerebellar dysfunction clinically and PrP plaques...
Gerstmann-Sträussler-Scheinker disease (GSS) with the P102L mutation in PRNP gene is characterized with progressive cerebellar dysfunction clinically and PrP plaques neurologically. Due to the cerebellar ataxia in the early stage, GSS P102L is often misdiagnosed as other neurodegenerative disorders. We presented here a 49-year-old female patient with proven P102L PRNP mutation, and three heterologous mutations in hereditary ataxias associated gene SYNE1, including p.V3643L, p.M3376V and p.T2860A. The patient appeared progressive unsteady gait in early stage and developed the Creutzfeldt-Jacob disease (CJD) - associated clinical manifestations, including progressive dementia, myoclonus, pyramidal and extrapyramidal signs. She is still alive but with akinetic mutism 21 months after onset. Observation of intense signal changes in cortical regions (cortical ribboning) in diffusion weighted imaging (DWI) MRI scanning and positive protein 14-3-3 in cerebrospinal fluid (CSF) proposed the diagnosis of sporadic CJD. The final diagnosis of P102L GSS was made after PRNP sequencing.
Topics: 14-3-3 Proteins; Creutzfeldt-Jakob Syndrome; Cytoskeletal Proteins; Female; Gerstmann-Straussler-Scheinker Disease; Humans; Middle Aged; Mutation; Nerve Tissue Proteins; Nuclear Proteins; Prion Proteins
PubMed: 29509064
DOI: 10.1080/19336896.2018.1447733 -
World Journal of Clinical Cases Sep 2023Prion diseases are a group of degenerative nerve diseases that are caused by infectious prion proteins or gene mutations. In humans, prion diseases result from mutations...
BACKGROUND
Prion diseases are a group of degenerative nerve diseases that are caused by infectious prion proteins or gene mutations. In humans, prion diseases result from mutations in the prion protein gene (PRNP). Only a limited number of cases involving a specific PRNP mutation at codon 196 (E196A) have been reported. The coexistence of Korsakoff syndrome in patients with Creutzfeldt-Jakob disease (CJD) caused by E196A mutation has not been documented in the existing literature.
CASE SUMMARY
A 61-year-old Chinese man initially presented with Korsakoff syndrome, followed by rapid-onset dementia, visual hallucinations, akinetic mutism, myoclonus, and hyperthermia. The patient had no significant personal or familial medical history. Magnetic resonance imaging of the brain revealed extensive hyperintense signals in the cortex, while positron emission tomography/computed tomography showed a diffuse reduction in cerebral cortex metabolism. Routine biochemical and microorganism testing of the cerebrospinal fluid (CSF) yielded normal results. Tests for thyroid function, human immunodeficiency virus, syphilis, vitamin B1 and B12 levels, and autoimmune rheumatic disorders were normal. Blood and CSF tests for autoimmune encephalitis and autoantibody-associated paraneoplastic syndrome yielded negative results. A test for 14-3-3 protein in the CSF yielded negative results. Whole-genome sequencing revealed a disease-causing mutation in PRNP. The patient succumbed to the illness 11 months after the initial symptom onset.
CONCLUSION
Korsakoff syndrome, typically associated with alcohol intoxication, also manifests in CJD patients. Individuals with CJD along with PRNP E196A mutation may present with Korsakoff syndrome.
PubMed: 37727484
DOI: 10.12998/wjcc.v11.i25.5982 -
PloS One 2018Akinetic mutism is a key diagnostic feature of prion diseases, however, their rapidly progressive nature makes detailed investigation of the language disorder in a large...
BACKGROUND
Akinetic mutism is a key diagnostic feature of prion diseases, however, their rapidly progressive nature makes detailed investigation of the language disorder in a large cohort extremely challenging. This study aims to position prion diseases in the nosology of language disorders and improve early clinical recognition.
METHODS
A systematic, prospective investigation of language disorders in a large cohort of patients diagnosed with prion diseases. 568 patients were included as a sub-study of the National Prion Monitoring Cohort. All patients had at least one assessment with the MRC Scale, a milestone-based functional scale with language and non-language components. Forty patients, with early symptoms and able to travel to the study site, were also administered a comprehensive battery of language tests (spontaneous speech, semantics, syntax, repetition, naming, comprehension and lexical retrieval under different conditions).
RESULTS
5/568 (0.9%) patients presented with leading language symptoms. Those with repeated measurements deteriorated at a slower rate in language compared to non-language milestones. Amongst the subgroup of 40 patients who underwent detailed language testing, only three tasks-semantic and phonemic fluency and sentence comprehension-were particularly vulnerable early in the disease. These tasks were highly correlated with performance on non-verbal executive tests. Patients were also impaired on a test of dynamic aphasia.
CONCLUSION
These results provide evidence that the language disorder in prion disease is rarely an isolated clinical or cognitive feature. The language abnormality is indicative of a dynamic aphasia in the context of a prominent dysexecutive syndrome, similar to that seen in patients with the degenerative movement disorder progressive supranuclear palsy (PSP).
Topics: Aphasia; Case-Control Studies; Female; Humans; Language Tests; Male; Middle Aged; Neuropsychological Tests; Prion Diseases; Prospective Studies
PubMed: 29304167
DOI: 10.1371/journal.pone.0190818 -
Brain and Behavior Aug 2021Transcranial magnetic stimulation is a noninvasive treatment used to modulate cortical excitability. Its use over the last two decades has expanded, ranging from...
BACKGROUND
Transcranial magnetic stimulation is a noninvasive treatment used to modulate cortical excitability. Its use over the last two decades has expanded, ranging from psychiatric disorders to traumatic brain injury and poststroke rehabilitation.
OBJECTIVES
We present the case of a 59-year-old male patient who presented in a decreased state of consciousness due to a right frontal glioblastoma, wherein his state was not improved by a successful surgery and could not be explained by any other condition. Due to his poor prognosis, we examine the benefits of receiving transcranial magnetic stimulation treatment to improve his akinetic mutism.
METHODS
We utilized independent component analysis with resting-state functional magnetic resonance imaging (rsfMRI) to better understand his cortical functionality. The imaging suggested absence of the default mode network (DMN). The patient underwent five sessions of navigated intermittent theta burst stimulation to the ipsilesional inferior parietal lobule and inferior frontal gyrus, with the aim of improving his default mode network functionality.
RESULTS
No other treatments resulted in an improvement of this patient's condition; however, 3 weeks following transcranial magnetic stimulation treatment, the patient was more alert and interactive, and his follow-up rsfMRI scan demonstrated a partially intact default mode network.
CONCLUSION
This case raises important questions regarding the clinical utility of transcranial magnetic stimulation to improve the connectivity of important cerebral networks and subsequent related functional recovery.
Topics: Akinetic Mutism; Brain; Default Mode Network; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Parietal Lobe; Transcranial Magnetic Stimulation
PubMed: 34145791
DOI: 10.1002/brb3.2180