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Clinical Neurology and Neurosurgery May 2021EEG findings in advanced Gerstmann-Sträussler-Scheinker syndrome (GSS) are shown. A 56-year-old woman developed GSS symptoms and was diagnosed as having GSS with the...
EEG findings in advanced Gerstmann-Sträussler-Scheinker syndrome (GSS) are shown. A 56-year-old woman developed GSS symptoms and was diagnosed as having GSS with the P102L mutation at age 58. During the early stage, there were no significant EEG findings. Her clinical condition worsened and she developed akinetic mutism at age 62. The patient died of pneumonia at age 65. EEGs were recorded annually from age 61 to 65. Bilateral independent periodic discharges (BIPDs) in both temporal areas appeared at age 64. No clinical seizures were noticed. MEG showed the sharp waves of BIPDs originated independently in each temporal lobe. Other causes of BIPDs were absent.
Topics: Aged; Brain; Electroencephalography; Female; Gerstmann-Straussler-Scheinker Disease; Humans; Middle Aged
PubMed: 33774505
DOI: 10.1016/j.clineuro.2021.106602 -
Brain and Behavior Apr 2021The clinical features and outcomes of subacute sclerosing panencephalitis (SSPE) in younger children are different from those of adults, leading easily to misdiagnosis...
BACKGROUND
The clinical features and outcomes of subacute sclerosing panencephalitis (SSPE) in younger children are different from those of adults, leading easily to misdiagnosis during the early stage. So far, there are limited data related to SSPE in preschool children.
METHODS
In order to summarize the clinical data and evolution of SSPE in preschool children and to expand the phenotypes of SSPE, the medical charts of preschool patients diagnosed with SSPE were retrospectively reviewed and analyzed; the clinical outcomes of the enrolled cases were evaluated and followed up.
RESULTS
Overall, we included three cases in the study. Their onset age was 5 years and 2 months, 4 years and 3 months, and 4 years and 2 months, respectively. All patients presented drop attacks or jerks as the onset symptom, and one patient had concurrent gait disturbance. Atypical periodic complexes on electroencephalography (EEG) were recorded in all patients. The brain magnetic resonance imaging (MRI) findings of two cases showed demyelinating lesions predominantly on the white matter. The neurological conditions of all cases deteriorated rapidly. Two children died at 21 months and 6 months after onset, respectively. The other case progressively developed vegetative status and akinetic mutism within 4 months.
CONCLUSIONS
In younger children, the characteristic features of SSPE may be seizures and gait instability as onset manifestations, atypical periodic complexes on EEG, and rapid worsening of neurological conditions.
Topics: Child, Preschool; Electroencephalography; Humans; Magnetic Resonance Imaging; Retrospective Studies; Seizures; Subacute Sclerosing Panencephalitis
PubMed: 33543580
DOI: 10.1002/brb3.2051 -
Cureus Jan 2021Pediatric akinetic mutism syndrome is a clinical disease resulting from cerebellar injury and characterized by the absence of speech or reduced speech, emotional... (Review)
Review
Pediatric akinetic mutism syndrome is a clinical disease resulting from cerebellar injury and characterized by the absence of speech or reduced speech, emotional lability, there may also be hypotonia, oropharyngeal dysfunction/dysphagia, bladder and intestinal incontinence, or other behavioral disorders and neurological signals. It is described as the most recurrent complication in children, after posterior fossa tumor surgery, mainly related to cerebellar midline injuries. An increasing number of research and prospective reviews have provided valuable information on cerebellar mutism syndrome in recent years. The purpose of this review was to elucidate the pathophysiological basis and the predictive factors for this syndrome. Most cases of mutism are due to injury cerebellar tracts and cerebellar-cerebral circuits, involving particularly distinct points of the dentate-thalamus-cortical and dentato-rubro-thalamus-cortical. Advanced neuroimaging techniques, such as tractography and perfusion studies, have contributed to demonstrating changes in these pathways in patients with pediatric cerebellar mutism.
PubMed: 33542880
DOI: 10.7759/cureus.12593 -
Prion Dec 2021Methionine/methionine type 1 (MM1-type) sporadic Creutzfeldt-Jakob disease (sCJD), known as the 'classic type,' shows typical clinicopathological sCJD findings. In...
Methionine/methionine type 1 (MM1-type) sporadic Creutzfeldt-Jakob disease (sCJD), known as the 'classic type,' shows typical clinicopathological sCJD findings. In general, patients reach an akinetic mutism state within a few months of disease onset and die soon after if supportive therapies are not administered. Here, we describe remarkable neuropathologic observations of MM1-type sCJD in a 48-year-old, Japanese man with an unusually prolonged akinetic mutism state. In the early disease stages, the patient exhibited abnormal behaviour with gait disturbance and rapidly progressive cognitive dysfunction. Diffusion-weighted magnetic resonance imaging revealed extensive cerebral cortical hyperintensity. Prion protein (PrP) gene analysis revealed no mutations, and the polymorphic codon 129 exhibited methionine homozygosity. Although the patient remained stable with tube feeding for more than 2 years after reaching the akinetic mutism state, he died because of central respiratory failure 30 months after disease onset. Neuropathologic investigation showed extensive devastating lesions, such as status spongiosus, and typical spongiform changes could no longer be observed in the cerebral neocortex. Conspicuous pyramidal tract degeneration was observed. However, the regions commonly preserved in MM1-type sCJD pathology were still relatively preserved. Immunostaining revealed extensive diffuse synaptic-type PrP deposition in the grey matter. The pathological findings suggested that sCJD is a neurodegenerative disease that shows system degeneration; there are primary and secondary degenerative regions and distinct preserved regions, even in cases with prolonged disease duration. In addition, it is considered that there is a limited survival period for MM1-type sCJD, even if active symptomatic treatment is provided.
Topics: Akinetic Mutism; Creutzfeldt-Jakob Syndrome; Humans; Male; Methionine; Middle Aged; Neurodegenerative Diseases; Prion Proteins
PubMed: 33472525
DOI: 10.1080/19336896.2020.1868931 -
Neurosciences (Riyadh, Saudi Arabia) Oct 2020The authors report a previously healthy 23-year-old male patient who presented with subarachnoid hemorrhage and was found to have a ruptured right distal anterior...
The authors report a previously healthy 23-year-old male patient who presented with subarachnoid hemorrhage and was found to have a ruptured right distal anterior cerebral artery aneurysm. He was treated by endovascular coiling technique, which was uneventful perioperatively. After a few days of mechanical ventilation and upon extubation, he expressed symptoms of apathy, drowsiness, lack of motivation, and lack of spontaneous motor function consistent with akinetic mutism. The magnetic resonance imaging of the brain revealed infarction of the whole body of corpus callosum. He remained in akinetic mutism status for twenty-one days before he started to show improvement until he fully recovered in 3 months. The authors report a unique finding where akinetic mutism resulted from infarction of the corpus callosum rather than medial frontal lobe (cingulate gyrus).
Topics: Akinetic Mutism; Aneurysm, Ruptured; Cerebral Arterial Diseases; Cerebral Infarction; Corpus Callosum; Endovascular Procedures; Humans; Intracranial Aneurysm; Male; Recovery of Function; Subarachnoid Hemorrhage; Young Adult
PubMed: 33459293
DOI: 10.17712/nsj.2020.5.20200071 -
Journal of Neurology Sep 2021To systematically describe central (CNS) and peripheral (PNS) nervous system complications in hospitalized COVID-19 patients. (Observational Study)
Observational Study
OBJECTIVE
To systematically describe central (CNS) and peripheral (PNS) nervous system complications in hospitalized COVID-19 patients.
METHODS
We conducted a prospective, consecutive, observational study of adult patients from a tertiary referral center with confirmed COVID-19. All patients were screened daily for neurological and neuropsychiatric symptoms during admission and discharge. Three-month follow-up data were collected using electronic health records. We classified complications as caused by SARS-CoV-2 neurotropism, immune-mediated or critical illness-related.
RESULTS
From April to September 2020, we enrolled 61 consecutively admitted COVID-19 patients, 35 (57%) of whom required intensive care (ICU) management for respiratory failure. Forty-one CNS/PNS complications were identified in 28 of 61 (45.9%) patients and were more frequent in ICU compared to non-ICU patients. The most common CNS complication was encephalopathy (n = 19, 31.1%), which was severe in 13 patients (GCS ≤ 12), including 8 with akinetic mutism. Length of ICU admission was independently associated with encephalopathy (OR = 1.22). Other CNS complications included ischemic stroke, a biopsy-proven acute necrotizing encephalitis, and transverse myelitis. The most common PNS complication was critical illness polyneuromyopathy (13.1%), with prolonged ICU stay as independent predictor (OR = 1.14). Treatment-related PNS complications included meralgia paresthetica. Of 41 complications in total, 3 were para/post-infectious, 34 were secondary to critical illness or other causes, and 4 remained unresolved. Cerebrospinal fluid was negative for SARS-CoV-2 RNA in all 5 patients investigated.
CONCLUSION
CNS and PNS complications were common in hospitalized COVID-19 patients, particularly in the ICU, and often attributable to critical illness. When COVID-19 was the primary cause for neurological disease, no signs of viral neurotropism were detected, but laboratory changes suggested autoimmune-mediated mechanisms.
Topics: Adult; COVID-19; Follow-Up Studies; Humans; Peripheral Nervous System; Prospective Studies; RNA, Viral; SARS-CoV-2; Stroke
PubMed: 33438076
DOI: 10.1007/s00415-020-10380-x -
Neurology Mar 2021
Topics: Adolescent; Akinetic Mutism; Anorexia; Autoantibodies; Brain; COVID-19; Electroencephalography; Encephalitis; Fecal Incontinence; Female; Glucocorticoids; Hallucinations; Humans; Immunoglobulins, Intravenous; Immunologic Factors; Magnetic Resonance Imaging; Methylprednisolone; Muscle Rigidity; Paranoid Disorders; Recovery of Function; Sleep Initiation and Maintenance Disorders; Tremor; Urinary Incontinence
PubMed: 33397771
DOI: 10.1212/WNL.0000000000011476 -
Behavioural Neurology 2020To study the clinical manifestations, magnetic resonance imaging (MRI) findings, and prognosis of delayed encephalopathy after carbon monoxide poisoning (DEACMP).
OBJECTIVE
To study the clinical manifestations, magnetic resonance imaging (MRI) findings, and prognosis of delayed encephalopathy after carbon monoxide poisoning (DEACMP).
METHODS
The medical records of 20 patients with DEACMP were retrospectively reviewed. All the patients received hyperbaric oxygen treatment and other treatments as necessary.
RESULTS
The patients had diverse clinical manifestations, including memory deficits, personality changes, cognitive or executive function deficits, mood disorders, Parkinsonism, dystonia or other motor impairments, and akinetic mutism. MRI revealed lesions in the bilateral cerebral white matter and/or basal ganglia. Except for the pathologically confirmed DEACMP, epileptic seizure, hemiplegia, and vegetative state, the remaining symptoms had been improved, especially the cognitive impairment, which had been decreased from 95% to 25% and psychiatric symptoms also decreased from 95% to 55% at the 6-month follow-up.
CONCLUSIONS
The prognosis of patients with DEACMP was poor, and they had a relatively severe disability. The early use of hyperbaric oxygen is of great significance to improve clinical efficacy and get a better prognosis.
Topics: Brain Diseases; Carbon Monoxide Poisoning; Humans; Magnetic Resonance Imaging; Prognosis; Retrospective Studies
PubMed: 33376556
DOI: 10.1155/2020/1719360 -
Case Reports in Neurology 2020The cortical silent period (CSP) induced by transcranial magnetic stimulation (TMS) has been reported to be prolonged in 2 Creutzfeldt-Jakob disease (CJD) patients who...
The cortical silent period (CSP) induced by transcranial magnetic stimulation (TMS) has been reported to be prolonged in 2 Creutzfeldt-Jakob disease (CJD) patients who presented with periodic myoclonus. Herein, we will show a prominent prolongation of TMS-induced CSP in a patient with CJD who did not have periodic myoclonus. The patient was a 66-year-old woman who developed rapidly progressive dementia. No myoclonic jerks were observed. Brain magnetic resonance imaging showed high-intensity lesions in the cerebral cortex, basal ganglia, and thalamus on diffusion-weighted images. Electroencephalography (EEG) showed diffuse and continuous slow waves, but no periodic synchronous discharges (PSDs). A TMS study revealed that the duration of CSP was prominently prolonged: the duration of CSP (370 ms) equaled that of the mean + 6.5 SD of the normal value. One month after admission, the patient exhibited akinetic mutism and developed periodic myoclonus in her limbs. The clinical course was compatible with CJD. To date, CSP has been measured in only 2 CJD patients. The common findings in both cases were marked prolongation of CSP, periodic myoclonus, and PSD on EEG. In short, we demonstrated that TMS-induced CSP was prominently prolonged even at the early stage of CJD without periodic myoclonus or PSD. In other disorders, the CSP has not been reported to be comparably prolonged to that of CJD patients. Therefore, we conclude that TMS-induced CSP could be prominently prolonged even in the early stage of CJD. The marked prolongation of the CSP might be an early biomarker of CJD.
PubMed: 33362525
DOI: 10.1159/000510395 -
Neuropathology : Official Journal of... Feb 2021We report clinicopathological findings of a patient with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes/Leigh syndrome (MELAS/LS) associated...
Clinicopathological findings of a mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes/Leigh syndrome overlap patient with a novel m.3482A>G mutation in MT-ND1.
We report clinicopathological findings of a patient with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes/Leigh syndrome (MELAS/LS) associated with a novel m.3482A>G mutation in MT-ND1. A 41-year-old woman had experienced multiple stroke-like episodes since age 16. She developed akinetic mutism two months before admission to our hospital. Neurological examination revealed akinetic mutism, bilateral deafness, and muscular atrophy. Cerebrospinal fluid tests revealed elevated pyruvate and lactate levels. Fluid-attenuated inversion recovery images on magnetic resonance imaging showed hyperintense areas in the right frontal and both sides of temporal and occipital lobes, both sides of the striatum, and the midbrain. Muscle biopsy revealed strongly succinate dehydrogenase-reactive blood vessels. L-arginine therapy improved her consciousness and prevented further stroke-like episodes. However, she died from aspiration pneumonia. Postmortem autopsy revealed scattered infarct-like lesions with cavitation in the cerebral cortex and necrotic lesions in the striatum and midbrain. The patient was pathologically confirmed as having MELAS/LS based on two characteristic clinicopathological findings: presenting MELAS/LS overlap phenotype and effectiveness of L-arginine treatment.
Topics: Acidosis, Lactic; Adult; Fatal Outcome; Female; Humans; Leigh Disease; Mitochondrial Encephalomyopathies; Mutation; NADH Dehydrogenase; Stroke
PubMed: 33300189
DOI: 10.1111/neup.12709