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Surgical Neurology International 2024Resection of bilateral parasagittal meningiomas of the dominant cortex is challenging. Some postoperative consequences are difficult to predict due to their low...
BACKGROUND
Resection of bilateral parasagittal meningiomas of the dominant cortex is challenging. Some postoperative consequences are difficult to predict due to their low incidence. However, it is essential to recognize reversible symptoms. Akinetic mutism is a devastating but reversible symptom that occurs after supplementary motor area (SMA) injury. This report aims to provide more information to support the clinical progression of this syndrome.
CASE DESCRIPTION
A 47-year-old woman presented with psychomotor retardation and subtle weakness, particularly on the left side. A palpable mass was identified at the head vertex. Magnetic resonance imaging revealed bilateral parasagittal meningiomas with bone and sinus invasion of the SMA. A craniotomy was performed to remove the intracapsular tumor. Two days after the operation, the patient developed gradual deterioration in her motor function until it became a lock-in-like syndrome. Then, 1.5 months after treatment in the hospital and rehabilitation unit, she gradually improved her motor, cognitive, and psychomotor skills. Total recovery was achieved after 1 year.
CONCLUSION
Surgery for lesions involving bilateral SMA can cause akinetic mutism. The typical manifestation of this syndrome may be devastating. However, it is reversible, and patients can regain full motor and cognitive functions over time without specific treatments. It is crucial to persevere and continue to provide the best care to the patient until recovery.
PubMed: 38742016
DOI: 10.25259/SNI_130_2024 -
Age and Ageing May 2024Sporadic Creutzfeldt-Jakob disease (sCJD) is a rapidly progressive neurodegenerative disease with public health implications. Mean age of onset is 68 years....
INTRODUCTION
Sporadic Creutzfeldt-Jakob disease (sCJD) is a rapidly progressive neurodegenerative disease with public health implications. Mean age of onset is 68 years. Age-specific incidence declines after 80 years. This may arise from under-ascertainment or other biological features of the disease. Accurate characterisation of late-onset sCJD is important for early diagnosis, avoiding unnecessary investigations and improving ascertainment for public health purposes.
OBJECTIVE
To phenotype the clinical features and investigation profile of sCJD in adults >80 years.
METHODS
We analysed all probable and definite sCJD cases identified by the UK National CJD Research & Surveillance Unit over a 10-year period (2011-2021). Individuals were grouped by age of onset. Clinical features and investigation profiles were compared.
RESULTS
10.3% (123/1196) had an age of onset over 80. Median survival was shorter (3.2 vs 4.3 months; P < 0.001). Pyramidal signs (48.3% vs 34.2%; P = 0.008) and akinetic mutism (55.1% vs 33.2%; P < 0.001) were more frequent. Psychiatric symptoms (26.3% vs 39.6%; P = 0.01) and cerebellar signs (65.4% vs 78.6%, P = 0.007) were less frequent. Cognitive impairment and myoclonus were highly prevalent regardless of age. Between age groups, the diagnostic sensitivity of cerebrospinal fluid real-time quaking-induced conversion (CSF RT-QuIC) (92.9% vs 91.9%, P = 0.74) was comparable, electroencephalography was superior (41.5% vs 25.4%; P = 0.006) and MRI was inferior (67.8% vs 91.4%; P < 0.001).
CONCLUSIONS
Late-onset sCJD has distinct clinical features, shorter survival and a different profile of investigation sensitivity. CSF RT-QuIC, MRI brain and specialist CJD review is recommended in older adults with a rapidly progressive neurological disorder. Autopsy is valuable when the cause remains elusive.
Topics: Humans; Creutzfeldt-Jakob Syndrome; United Kingdom; Male; Female; Aged, 80 and over; Age of Onset; Incidence; Phenotype; Magnetic Resonance Imaging; Electroencephalography
PubMed: 38706391
DOI: 10.1093/ageing/afae086 -
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 -
Scientific Reports Feb 2024After severe brain injury, zolpidem is known to cause spectacular, often short-lived, restorations of brain functions in a small subgroup of patients. Previously, we...
After severe brain injury, zolpidem is known to cause spectacular, often short-lived, restorations of brain functions in a small subgroup of patients. Previously, we showed that these zolpidem-induced neurological recoveries can be paralleled by significant changes in functional connectivity throughout the brain. Deep brain stimulation (DBS) is a neurosurgical intervention known to modulate functional connectivity in a wide variety of neurological disorders. In this study, we used DBS to restore arousal and motivation in a zolpidem-responsive patient with severe brain injury and a concomitant disorder of diminished motivation, more than 10 years after surviving hypoxic ischemia. We found that DBS of the central thalamus, targeted at the centromedian-parafascicular complex, immediately restored arousal and was able to transition the patient from a state of deep sleep to full wakefulness. Moreover, DBS was associated with temporary restoration of communication and ability to walk and eat in an otherwise wheelchair-bound and mute patient. With the use of magnetoencephalography (MEG), we revealed that DBS was generally associated with a marked decrease in aberrantly high levels of functional connectivity throughout the brain, mimicking the effects of zolpidem. These results imply that 'pathological hyperconnectivity' after severe brain injury can be associated with reduced arousal and behavioral performance and that DBS is able to modulate connectivity towards a 'healthier baseline' with lower synchronization, and, can restore functional brain networks long after severe brain injury. The presence of hyperconnectivity after brain injury may be a possible future marker for a patient's responsiveness for restorative interventions, such as DBS, and suggests that lower degrees of overall brain synchronization may be conducive to cognition and behavioral responsiveness.
Topics: Humans; Deep Brain Stimulation; Zolpidem; Akinetic Mutism; Motivation; Thalamus; Arousal; Brain Injuries
PubMed: 38316863
DOI: 10.1038/s41598-024-52267-1 -
Cureus Jan 2024A 77-year-old woman exhibited a rapid progression of dementia and declining physical function and, over a period of about four months, reached a state of akinetic...
A 77-year-old woman exhibited a rapid progression of dementia and declining physical function and, over a period of about four months, reached a state of akinetic mutism. A final diagnosis of Creutzfeldt-Jakob disease (CJD) was made. A nasogastric tube was inserted into the stomach, and then it was confirmed on X-ray that the end of the tube was in the correct position. She was discharged to a nursing home, where she received home medical care after discharge. One month after the nasogastric tube insertion, Tumguide® was used to assist in replacing the tube at this home. In home care settings where an X-ray machine may not be available, Tumguide® may assist with nasogastric tube insertion.
PubMed: 38222985
DOI: 10.7759/cureus.52082 -
Cureus Dec 2023Background Sporadic Creutzfeldt-Jakob disease (CJD), the most common form of human prion disease, is the archetypal diagnosis in this category. However, the spectrum of...
Background Sporadic Creutzfeldt-Jakob disease (CJD), the most common form of human prion disease, is the archetypal diagnosis in this category. However, the spectrum of possible diagnoses is wide, encompassing various treatable conditions. A lack of standardized diagnostic criteria and a tendency to opt for brain biopsies and clinical autopsies can be limiting factors in reaching a conclusive diagnosis. Objective This study aims to retrospectively analyze clinical and investigative findings in patients referred to a specialized neurology clinic exhibiting rapidly progressive dementia. These patients were ultimately diagnosed with Probable sporadic Creutzfeldt-Jakob disease (CJD) based on the 2018 CDC criteria for sporadic CJD. Materials and Methods This study included cases of CJD diagnosed based on clinical, electrophysiological, and imaging parameters at a tertiary care hospital in India from 2016 to 2020. The diagnostic criteria proposed by the CDC (Centers for Disease Control and Prevention) were employed to categorize patients as definite, probable, or possible CJD cases. All patients underwent MRI (magnetic resonance imaging) imaging and EEG ( electroencephalography) recording, while diagnostic brain biopsies were not conducted due to a lack of consent from close relatives. Results This observational descriptive study comprised four patients diagnosed with Probable sporadic CJD (sCJD), all of whom were female. The patients exhibited an age range of 57 to 75 years at the onset of the disease, with a mean age of onset at 67.5 years. Unfortunately, all patients succumbed to the disease within 6 months of its onset. Rapidly progressive dementia was a common symptom in all cases. Additionally, patient one and patient four displayed myoclonus and dystonia, patient two exhibited myoclonus and akinetic mutism, and patient three had myoclonus, chorea, and ataxia. MR brain imaging, including T2 sequence, FLAIR sequence, and DWI/ADC mapping, was performed on all patients, revealing both cortical gray matter and deep gray matter (basal ganglia) T2/FLAIR hyperintensities with DWI restriction. A cortical ribboning pattern was observed in all cases. EEG results indicated generalized delta slow waves with triphasic complexes in three patients, while patient three alone displayed periodic sharp wave complexes at a frequency of 1 per 1 - 1.5 seconds. Conclusion MRI with DWI and ADC brain mapping emerges as the most valuable diagnostic tool for patients with clinical presentations suggesting sCJD. In this study, all patients displayed restricted diffusion, as confirmed by ADC mapping. Regrettably, the characteristic features of sCJD with restricted diffusion in the cortex, thalamus, and basal ganglia may often elude detection by radiologists outside specialized centers, resulting in diagnostic delays. Conversely, when basal ganglia or cortical signal abnormalities are detected in conjunction with parenchymal swelling, alternative diagnoses such as encephalitis or lymphoma should be considered, as parenchymal swelling is not a typical feature of sCJD as revealed by MRI.
PubMed: 38186537
DOI: 10.7759/cureus.50008 -
Brain & NeuroRehabilitation Nov 2023Delayed encephalopathy (DE) following acute carbon monoxide (CO) poisoning is characterized by a wide range of neurological symptoms, including akinetic mutism,...
Delayed encephalopathy (DE) following acute carbon monoxide (CO) poisoning is characterized by a wide range of neurological symptoms, including akinetic mutism, cognitive impairment, and gait disturbances. Herein, we reported the case of a 61-year-old patient with DE after acute CO poisoning, who displayed heterogeneous patterns of cortical and subcortical structural integrity on diffusion tensor imaging (DTI). Four distinct patterns of diffusion tensor metrics (fractional anisotropy [FA] and mean diffusivity [MD]) were observed in the patient compared to age-matched controls (a decrease in FA and an increase in MD, a decrease in FA only, an increase in MD only, and an increase in FA and MD). This study revealed heterogeneous patterns of cortical and subcortical damage associated with DE after CO poisoning, contributing to a deeper understanding of the diverse clinical symptoms observed in this patient.
PubMed: 38047103
DOI: 10.12786/bn.2023.16.e34 -
BMC Neurology Oct 2023Creutzfeldt-Jakob disease (CJD) is a rapidly progressive and ultimately fatal neurodegenerative condition caused by prions. The clinical symptoms of CJD vary with its...
BACKGROUND
Creutzfeldt-Jakob disease (CJD) is a rapidly progressive and ultimately fatal neurodegenerative condition caused by prions. The clinical symptoms of CJD vary with its subtype, and may include dementia, visual hallucinations, myoclonus, ataxia, (extra)pyramidal signs and akinetic mutism. In the early course of disease however, several clinical symptoms of CJD may mimic those of co-existing morbidities.
CASE PRESENTATION
We report a male in his 60s with a history of situs inversus totalis and Churg Strauss syndrome, who presented with speech fluency disturbances, neuropsychiatric symptoms and allodynia, a few months after becoming a widower. Initially presumed a bereavement disorder along with a flare-up of Churg Strauss, his symptoms gradually worsened with apraxia, myoclonic jerks and eventually, akinetic mutism. MRI revealed hyperintensities at the caudate nucleus and thalami, while the cerebrospinal fluid was positive for the 14-3-3 protein and the real-time quick test, making the diagnosis of CJD highly probable. This case illustrates the complexities that may arise in diagnosing CJD when pre-existing multimorbidity may cloud the clinical presentation. We also discuss the potential mechanisms underlying the co-occurrence of three rare conditions (situs inversus totalis, Churg Strauss syndrome, CJD) in one patient, taking into consideration the possibility of coincidence as well as common underlying factors.
CONCLUSIONS
The diagnosis of CJD may be easily missed when its clinical symptoms are obscured by those of pre-existing (rare) multimorbidity. This case highlights that when the multimorbidity has neurological manifestations, an extensive evaluation remains crucial to establish the diagnosis, minimize the risk of prion-transmission and provide appropriate guidance to patients and their caregivers.
Topics: Humans; Male; Creutzfeldt-Jakob Syndrome; Akinetic Mutism; Churg-Strauss Syndrome; Multimorbidity; Myoclonus; Situs Inversus
PubMed: 37784069
DOI: 10.1186/s12883-023-03401-5 -
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