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Neurocase Feb 2024We report on a patient with delayed post-hypoxic leukoencephalopathy (DPHL) who showed akinetic mutism and gait disturbance, neural injuries that were demonstrated on...
We report on a patient with delayed post-hypoxic leukoencephalopathy (DPHL) who showed akinetic mutism and gait disturbance, neural injuries that were demonstrated on diffusion tensor tractography (DTT). A patient was exposed to carbon monoxide (CO) and rapidly recovered; however, two weeks after onset, he began to show cognitive impairment and gait disturbance. At six weeks after CO exposure, he showed akinetic mutism and gait inability. DTT at 6-weeks post-exposure showed discontinuations in neural connectivities of the caudate nucleus to the medial prefrontal and orbitofrontal cortex in both hemispheres. In addition, the corticoreticulospinal tract revealed severe thinning in both hemispheres.
Topics: Humans; Akinetic Mutism; Male; Leukoencephalopathies; Gait Disorders, Neurologic; Diffusion Tensor Imaging; Hypoxia, Brain; Middle Aged; Adult
PubMed: 38725351
DOI: 10.1080/13554794.2024.2353125 -
Neurological Sciences : Official... May 2024Cerebellar mutism syndrome (CMS) is a frequent complication of surgical intervention on posterior fossa in children. It has been only occasionally reported in adults and... (Review)
Review
Cerebellar mutism syndrome (CMS) is a frequent complication of surgical intervention on posterior fossa in children. It has been only occasionally reported in adults and its features have not been fully characterized. In children and in young adults, medulloblastoma is the main reason for neurosurgery. A single case of postsurgical CMS is presented in an adult patient with a cerebellar hemorrhage and a systematic review of the published individual cases of CMS in adults was done. Literature review of individual cases found 30 patients, 18/30 (60%) males, from 20 to 71 years at diagnosis. All but one case was post-surgical, but in one of the post-surgical cases iatrogenic basilar artery occlusion was proposed as cause for CMS. The causes were: primary tumors of the posterior fossa in 16/22 (72.7%) metastasis in 3/30 (10%), ischemia in 3/30 (10%) cerebellar hemorrhage in 3/30 (10%), and benign lesions in 2/30 (6.7%) patients. 8/30 patients (26.7%) were reported as having persistent or incomplete resolution of CMS within 12 months. CMS is a rare occurrence in adults and spontaneous cerebellar hemorrhage has been reported in 3/30 (10%) adult patients. The generally accepted hypothesis is that CMS results from bilateral damage to the dentate nucleus or the dentate-rubro-thalamic tract, leading to cerebro-cerebellar diaschisis. Several causes might contribute in adults. The prognosis of CMS is slightly worse in adults than in children, but two thirds of cases show a complete resolution within 6 months.
PubMed: 38724752
DOI: 10.1007/s10072-024-07571-z -
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 -
BJPsych Open Apr 2024Catatonia is a neuropsychiatric disorder characterised by psychomotor changes that can affect individuals across the lifespan. Although features of catatonia have been...
BACKGROUND
Catatonia is a neuropsychiatric disorder characterised by psychomotor changes that can affect individuals across the lifespan. Although features of catatonia have been described in adults, the most common clinical symptoms among paediatric patients with catatonia are not well characterised.
AIMS
The goal of this study was to characterise the symptoms of catatonia demonstrated by paediatric patients, and to explore demographic and diagnostic factors associated with greater catatonia severity.
METHOD
We conducted a multicentre retrospective cohort study, from 1 January 2018 to 6 January 2023, of patients aged 18 and younger with a clinical diagnosis of catatonia and symptom assessment using the Bush Francis Catatonia Rating Scale (BFCRS).
RESULTS
A total of 143 patients met inclusion criteria. The median age was 15 (interquartile range: 13-16) years and 66 (46.2%) patients were female. Neurodevelopmental disabilities were present in 55 (38.5%) patients. Patients demonstrated a mean of 6.0 ± 2.1 signs of catatonia on the Bush Francis Catatonia Screening Item, with a mean BFCRS score of 15.0 ± 5.9. Among the 23 items of the BFCRS, six were present in >50% of patients (staring, mutism, immobility/stupor, withdrawal, posturing/catalepsy, rigidity), and four were present in <20% of cases (waxy flexibility, mitgehen, gegenhalten, grasp reflex). In an adjusted model, patients with neurodevelopmental disorders demonstrated greater BFCRS severity than those with other diagnoses.
CONCLUSIONS
Catatonia was diagnosed in a range of mental health conditions. Further research is needed to define optimal diagnostic criteria for catatonia in paediatric patients, and clarify the clinical course of the disorder.
PubMed: 38686558
DOI: 10.1192/bjo.2024.61 -
Child's Nervous System : ChNS :... Jul 2024
Highlighting the significance of the dentate nucleus: insights from a multicentered retrospective review on cerebellar mutism in pediatric posterior fossa tumor resection.
Topics: Humans; Mutism; Infratentorial Neoplasms; Retrospective Studies; Cerebellar Nuclei; Child; Female; Male; Neurosurgical Procedures
PubMed: 38683396
DOI: 10.1007/s00381-024-06428-2 -
Child's Nervous System : ChNS :... Jul 2024The Posterior Fossa Society, an international multidisciplinary group, hosted its first global meeting designed to share the current state of the evidence across the...
PURPOSE
The Posterior Fossa Society, an international multidisciplinary group, hosted its first global meeting designed to share the current state of the evidence across the multidisciplinary elements of pediatric post-operative cerebellar mutism syndrome (pCMS). The agenda included keynote talks from world-leading speakers, compelling abstract presentations and engaging discussions led by members of the PFS special interest groups.
METHODS
This paper is a synopsis of the first global meeting, a 3-day program held in Liverpool, England, UK, in September 2022.
RESULTS
Topics included nosology, patient and family experience, cerebellar modulation of cognition, and cerebellar cognitive affective syndrome. In addition, updates from large-scale studies were shared as well as abstracts across neuroradiology, neurosurgery, diagnosis/scoring, ataxia, and rehabilitation.
CONCLUSIONS
Based on data-driven evidence and discussions, each special interest group created research priorities to target before the second global meeting, in the spring of 2024.
Topics: Humans; Mutism; Cerebellar Diseases; Congresses as Topic; Societies, Medical; Cranial Fossa, Posterior
PubMed: 38647662
DOI: 10.1007/s00381-024-06411-x -
Neurosurgical Review Apr 2024Segmentation tools continue to advance, evolving from manual contouring to deep learning. Researchers have utilized segmentation to study a myriad of posterior...
BACKGROUND
Segmentation tools continue to advance, evolving from manual contouring to deep learning. Researchers have utilized segmentation to study a myriad of posterior fossa-related conditions, such as Chiari malformation, trigeminal neuralgia, post-operative pediatric cerebellar mutism syndrome, and Crouzon syndrome. Herein, we present a summary of the current literature on segmentation of the posterior fossa. The review highlights the various segmentation techniques, and their respective strengths and weaknesses, employed along with objectives and outcomes of the various studies reported in the literature.
METHODS
A literature search was conducted in PubMed, Embase, Cochrane, and Web of Science up to November 2023 for articles on segmentation techniques of posterior fossa. The two senior authors searched through databases based on the keywords of the article separately and then enrolled joint articles that met the inclusion and exclusion criteria.
RESULTS
The initial search identified 2205 articles. After applying inclusion and exclusion criteria, 77 articles were selected for full-text review after screening of titles/abstracts. 52 articles were ultimately included in the review. Segmentation techniques included manual, semi-automated, and fully automated (atlas-based, convolutional neural networks). The most common pathology investigated was Chiari malformation.
CONCLUSIONS
Various forms of segmentation techniques have been used to assess posterior fossa volumes/pathologies and each has its advantages and disadvantages. We discuss these nuances and summarize the current state of literature in the context of posterior fossa-associated pathologies.
Topics: Humans; Arnold-Chiari Malformation; Cranial Fossa, Posterior; Magnetic Resonance Imaging
PubMed: 38637466
DOI: 10.1007/s10143-024-02366-4 -
Cureus Mar 2024In this case report, we present an 82-year-old female who was diagnosed with catatonia after she exhibited immobility, mutism, withdrawal, and stereotypy during a...
In this case report, we present an 82-year-old female who was diagnosed with catatonia after she exhibited immobility, mutism, withdrawal, and stereotypy during a hospitalization for altered mental status. Fentanyl was found in her urine toxicology, and it was later discovered that she had been taking non-prescription pills from Mexico that were likely the source of the fentanyl. Her catatonia quickly remitted with benzodiazepine treatment. This case underscores previously unknown risks of substance use, which has grown especially important to psychiatric care considering how rampant the opioid epidemic has become. More so, these risks extend beyond opioid use disorders since other non-prescription drugs are commonly laced with fentanyl. Not only does this education need to be given to providers and patients alike, but further research should be conducted to establish and quantify the risk of catatonia with opioid withdrawal.
PubMed: 38633950
DOI: 10.7759/cureus.56396 -
Child's Nervous System : ChNS :... Jul 2024To ascertain the presence of catatonia in cases of pediatric postoperative cerebellar mutism syndrome (PPCMS). (Review)
Review
OBJECTIVE
To ascertain the presence of catatonia in cases of pediatric postoperative cerebellar mutism syndrome (PPCMS).
METHOD
A systematic review of PPCMS case reports of patients aged 0-17 years with sufficient clinical information to extract catatonic phenomena was undertaken following PRISMA guidelines. Standardized catatonia rating scales were applied to selected cases retrospectively to ascertain whether diagnostic criteria for catatonia were met. A case known to the authors is also presented.
RESULTS
Two hundred twenty-one suitable full-text articles were identified. Following screening and application of inclusion criteria, 51 articles were selected plus seven more from their references, reporting on 119 subjects. All cases met Bush and Francis (BF) diagnostic criteria for catatonia, 92.5% Pediatric Catatonia Rating Scale (PCRS), 52.9% ICD-11, and 44.5% DSM-5. All patients presented with mutism. The next most frequent signs were immobility/stupor (77.3%), withdrawal (35.3%), mannerisms (23.5%), and excitement/agitation (18.5%). Most cases presented with stuporous catatonia (75.6%). Catatonia most frequently occurred following resection of medulloblastoma (64.7%). Preoperative hydrocephalus occurred in 89 patients (74.8%).
CONCLUSION
Catatonia was frequent in this PPCMS sample, with a predominant stuporous variant; it should be considered in patients with PPCMS and assessed with reliable and validated instruments for prompt diagnosis and management.
Topics: Adolescent; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Catatonia; Cerebellar Diseases; Mutism; Postoperative Complications
PubMed: 38630268
DOI: 10.1007/s00381-024-06392-x -
Child's Nervous System : ChNS :... Apr 2024This study aims to provide an exhaustive analysis of pediatric low-grade gliomas (pLGGs) in the cerebellar hemispheres, focusing on incidence, clinical characteristics,... (Review)
Review
PURPOSE
This study aims to provide an exhaustive analysis of pediatric low-grade gliomas (pLGGs) in the cerebellar hemispheres, focusing on incidence, clinical characteristics, surgical outcomes, and prognosis. It seeks to enhance understanding and management of pLGGs in the pediatric population.
METHODS
We conducted an observational, descriptive, retrospective, and cross-sectional study at a pediatric hospital, reviewing medical records of 30 patients with cerebellar hemispheric pLGGs treated from December 2014 to January 2023. Data collection included demographics, clinical presentation, imaging findings, surgical approach, postoperative complications, histopathological diagnosis, hydrocephalus management, and follow-up. Molecular markers and adjuvant therapies were also analyzed.
RESULTS
The cohort predominantly presented with cerebellar symptoms, with 60% showing hydrocephalus at diagnosis. MRI with gadolinium was crucial for diagnosis. Surgical focus was on achieving gross total resection (GTR), accomplished in 70% of cases. Postsurgical hydrocephalus was less common, and cerebellar mutism was not reported. While a complete molecular analysis was not performed in all cases, available data suggest significant influence of molecular markers on prognosis and therapeutic options of pLGGs.
CONCLUSIONS
This study highlights the unique clinical and molecular characteristics of cerebellar hemispheric pLGGs in children. The lower incidence of postoperative hydrocephalus and absence of cerebellar mutism are notable findings. Emphasizing a multidisciplinary approach, our findings contribute to a deeper understanding of pediatric pLGGs, underscoring the need for personalized treatment strategies and vigilant follow-up.
PubMed: 38607550
DOI: 10.1007/s00381-024-06394-9