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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 -
MEDICC Review Oct 2016The study of consciousness disorders is a scientific challenge, and clinical differentiation among the various sorts of alterations in consciousness is difficult.... (Review)
Review
The study of consciousness disorders is a scientific challenge, and clinical differentiation among the various sorts of alterations in consciousness is difficult. Persistent vegetative state was defined in 1972, but years later cases appeared in which diagnosed patients showed signs of cognitive activity, and therefore could not be considered vegetative. Minimally conscious state was defined in 2002. This article discusses minimally conscious state based on a literature review and the author's clinical experience. A brief historical outline is given, starting from 1886 when Horsley analyzed level of consciousness. The article reviews criteria for defining minimally conscious state, as well as the differential diagnosis from persistent vegetative state, brain death, coma, locked-in syndrome and akinetic mutism. Modern discoveries of residual cognitive functioning and new neural correlates have contributed to increased knowledge of this condition. Regardless, minimally conscious state continues to be a challenge for neuroscientists around the world, with issues still to be resolved. KEYWORDS Consciousness, consciousness disorders, minimally conscious state, persistent vegetative state, coma, akinetic mutism, brain death, neurosciences, locked-in syndrome, coma, Cuba.
Topics: Brain Death; Coma; Diagnosis, Differential; Humans; Persistent Vegetative State; Quadriplegia
PubMed: 27829654
DOI: 10.37757/MR2016.V18.N4.9 -
Annals of Clinical and Translational... Apr 2021Many neurological manifestations are associated with COVID-19, including a distinct form of encephalopathy related to cytokine storm, the acute systemic inflammatory... (Review)
Review
OBJECTIVE
Many neurological manifestations are associated with COVID-19, including a distinct form of encephalopathy related to cytokine storm, the acute systemic inflammatory syndrome present in a subgroup of COVID-19 patients. Cytokine storm is also associated with immune effector cell-associated neurotoxicity syndrome (ICANS), a complication of chimeric antigen receptor T-cell (CAR-T) therapy, a highly effective treatment for refractory hematological malignancies. We investigated whether COVID-19-related encephalopathy, ICANS, and other encephalopathies associated with cytokine storm, share clinical and investigative findings.
METHODS
Narrative literature review.
RESULTS
Comparisons between COVID-19-related encephalopathy and ICANS revealed several overlapping features. Clinically, these included dysexecutive syndrome, language disturbances, akinetic mutism and delirium. EEG showed a prevalence of frontal abnormalities. Brain MRI was often unrevealing. CSF elevated cytokine levels have been reported. A direct correlation between cytokine storm intensity and severity of neurological manifestations has been shown for both conditions. Clinical recovery occurred spontaneously or following immunotherapies in most of the patients. Similar clinical and investigative features were also reported in other encephalopathies associated with cytokine storm, such as hemophagocytic lymphohistiocytosis, sepsis, and febrile infection-associated encephalopathies.
INTERPRETATION
COVID-19-related encephalopathy and ICANS are characterized by a predominant electro-clinical frontal lobe dysfunction and share several features with other encephalopathies associated with cytokine storm, which may represent the common denominator of a clinical spectrum of neurological disorders. Therefore, we propose a unifying definition of cytokine storm-associated encephalopathy (CySE), and its diagnostic criteria.
Topics: Brain; Brain Diseases; COVID-19; Cytokine Release Syndrome; Humans; Immunotherapy, Adoptive; Receptors, Chimeric Antigen
PubMed: 33780166
DOI: 10.1002/acn3.51348 -
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 -
Frontiers in Human Neuroscience 2022This paper presents a case in whom a differential diagnosis of akinetic mutism with a disorder of consciousness was made using diffusion tensor tractography (DTT). A...
This paper presents a case in whom a differential diagnosis of akinetic mutism with a disorder of consciousness was made using diffusion tensor tractography (DTT). A 69-year-old female patient was diagnosed with subarachnoid hemorrhage, intraventricular hemorrhage, and intracerebral hemorrhage produced by the subarachnoid hemorrhage. She exhibited impaired consciousness with a Coma Recovery Scale-Revised score of 13 until 1 month after onset. Her impaired consciousness recovered slowly to a normal state according to the Coma Recovery Scale-Revised (23 points: full score) at 7 weeks after onset. On the other hand, she exhibited the typical clinical features of akinetic mutism (no spontaneous movement [akinesia] or speech [mutism]). On the DTT performed at 1-month, the upper, and lower dorsal ascending reticular activating systems, which are related to a disorder of consciousness, showed an almost normal state. In contrast, the prefronto-caudate and prefronto-thalamic tracts, which are related to akinetic mutism, showed severe injuries. These DTT results suggested that the patient's main clinical features were not a disorder of consciousness but akinetic mutism. Therefore, DTT for the ascending reticular activating system, and the prefronto-caudate and prefronto-thalamic tracts could provide additional evidence for a differential diagnosis of DOC and AM at the early stages of stroke.
PubMed: 35280207
DOI: 10.3389/fnhum.2022.778347 -
Brain, Behavior, & Immunity - Health Aug 2021
Review
PubMed: 34002170
DOI: 10.1016/j.bbih.2021.100272 -
Annals of Rehabilitation Medicine Dec 2017Cerebellar mutism (CM) is a rare neurological condition characterized by lack of speech due to cerebellar lesions. CM is often reported in children. We describe a rare...
Cerebellar mutism (CM) is a rare neurological condition characterized by lack of speech due to cerebellar lesions. CM is often reported in children. We describe a rare case of CM after spontaneous cerebellar hemorrhage. The patient showed mutism, irritability, decreased spontaneous movements and oropharyngeal apraxia. Diffusion tensor imaging revealed significant volume reduction of medial frontal projection fibers from the corpus callosum. In Tracts Constrained by UnderLying Anatomy (TRACULA) analysis, forceps major and minor and bilateral cingulum-angular bundles were not visualized. Cerebello-frontal pathway reconstructed from the FMRIB Software Library showed continuity of fibers, with decreased number of fibers on qualitative analysis. These results suggest that cerebello-frontal disconnection may be a neuroanatomical mechanism of CM. Damage of brain network between occipital lobe, cingulate and cerebellum caused by hemorrhage may also have role in the mechanism of CM in our case.
PubMed: 29354585
DOI: 10.5535/arm.2017.41.6.1076 -
Frontiers in Neurology 2023During her first year of junior high school, a 12-year-old Japanese girl with Down syndrome experienced dizziness, gait disruption, paroxysmal weakness in her hands, and...
Case report: Evolution of catatonic mutism and psychotic symptoms in an adolescent with Down syndrome: transition from Down syndrome disintegrative disorder to anti-N-methyl-D-aspartate receptor encephalitis.
During her first year of junior high school, a 12-year-old Japanese girl with Down syndrome experienced dizziness, gait disruption, paroxysmal weakness in her hands, and sluggish speaking. Regular blood tests and a brain MRI revealed no abnormalities, and she was tentatively diagnosed with adjustment disorder. Nine months later, the patient experienced a subacute sickness of chest pain, nausea, sleep problem with night terrors, and delusion of observation. Rapid deterioration then developed with simultaneous fever, akinetic mutism, loss of facial expression, and urine incontinence. These catatonic symptoms improved after a few weeks after admission and treatment with lorazepam, escitalopram, and aripiprazole. After discharge, nonetheless, daytime slumber, empty eyes, paradoxical laughter, and declined verbal communication persisted. Upon confirmation of the cerebrospinal N-methyl-D-aspartate (NMDA) receptor autoantibody, methylprednisolone pulse therapy was tried, but it had little effect. Visual hallucinations and cenesthopathy, as well as suicidal thoughts and delusions of death, have predominated in the following years. Cerebrospinal IL-1ra, IL-5, IL-15, CCL5, G-CSF, PDGFbb, and VFGF were raised in the early stage of initial medical attention with nonspecific complaints, but were less prominent in the later stages of catatonic mutism and psychotic symptoms. We suggest a disease concept of progression from Down syndrome disintegrative disorder to NMDA receptor encephalitis, based on this experience.
PubMed: 37360353
DOI: 10.3389/fneur.2023.1200541 -
Biological Psychiatry Sep 2020
Topics: Akinetic Mutism; Basal Ganglia; Benzodiazepines; Betacoronavirus; COVID-19; Catatonia; Coronavirus Infections; Delirium; Diagnosis, Differential; Electroconvulsive Therapy; History; Humans; Neurobiology; Neuropsychiatry; Pandemics; Patient Care Management; Pneumonia, Viral; SARS-CoV-2; gamma-Aminobutyric Acid
PubMed: 32792053
DOI: 10.1016/j.biopsych.2020.07.001 -
Tremor and Other Hyperkinetic Movements... 2023Creutzfeldt-Jakob disease (CJD) is a rare neuro degenerative disease that is mainly characterized by rapidly progressive dementia along with a varying combination of...
BACKGROUND
Creutzfeldt-Jakob disease (CJD) is a rare neuro degenerative disease that is mainly characterized by rapidly progressive dementia along with a varying combination of myoclonus, visual, cerebellar, pyramidal/extrapyramidal and akinetic mutism. Several movement disorders phenomenologies can occurs either at onset, as presenting symptom or during the course of illness. Present study aims to characterize the clinical, radiological features and the outcome of patients with CJD with movement disorders as the forthcoming manifestation.
METHODS
Chart review of patients with CJD with movement disorders. Demographic, clinical and radiological details of the patients were reviewed.
RESULTS
25 patients (13 males) of sCJD with median age at presentation of 58 years and median duration of illness of 5 months were included in the study. According to revised CDC diagnostic criteria 1 patient was classified as definite sCJD, 20 as probable and 2 as possible CJD. Myoclonus, ataxia and parkinsonism were the most common movement disorder and chorea was the least common. Magnetic resonance imaging of brain was performed in all and basal ganglia abnormality and cortical ribboning was seen in more than two-third of cases. Electroencephalographic abnormality was noted in 21 patients with triphasic waves and periodic sharp waves seen in 7 and 6 patients respectively. Cerebrospinal fluid 14-3-3 assay was abnormal in 2 out of 4 patients. Atypical presentations were noted in the form of ataxic presentation, CBS like presentation and choreiform presentation.
CONCLUSION
Myoclonus, ataxia and parkinsonism are the most frequent movement disorders phenomenology observed in patients with sCJD.
Topics: Male; Humans; Creutzfeldt-Jakob Syndrome; Myoclonus; Ataxia; Parkinsonian Disorders
PubMed: 37152622
DOI: 10.5334/tohm.753