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Experimental and Therapeutic Medicine Oct 2017The present study aimed to investigate the efficacy of endoscopy in the treatment of post-shunt placement for slit ventricle syndrome (SVS). Endoscopic surgery was...
The present study aimed to investigate the efficacy of endoscopy in the treatment of post-shunt placement for slit ventricle syndrome (SVS). Endoscopic surgery was performed on 18 patients with SVS between October 2004 and December 2012. Sex, age, causes of the hydrocephalus, ventricular size and imaging data were collected and analyzed. All patients were divided into two groups according to ventricular size and underwent endoscopic surgeries, including endoscopic third ventriculostomy (ETV), endoscopic aqueductoplasty and cystocisternostomy. All treated patients were observed postoperatively for a period of 2 to 3 weeks, and outpatient follow-up was subsequently scheduled for >12 months. Clinical results, including catheter adherence, shunt removal and complications, were analyzed during the follow-up period. The success rate of endoscopic surgery was indicated to be 82.7%. Syndromes caused by aqueductal stenosis in 15 patients who underwent ETV were relieved; however, syndromes in the 3 patients with cerebral cysticercosis, suprasellar arachnoid cysts, pinea larea glioma and communicating hydrocephalus, respectively, were not relieved and underwent shunt placement again. Brain parenchyma, choroid plexus and ependymal tissue were the predominant causes for catheter obstruction and the obstruction rate was indicated to be 77.8% (14/18). Complications, such as pseudobulbar paralysis, infection and intraventricular hemorrhage arose in 3 patients. The present study indicates that endoscopic treatments are effective and ETV may be considered as a recommended option in the treatment of post-shunt placement SVS in hydrocephalus patients.
PubMed: 29042922
DOI: 10.3892/etm.2017.4973 -
Neurology Feb 2024A 5-year-old boy presented with subacute motor regression since age 2.5 years. Examination revealed spasticity of bilateral lower extremities, generalized dystonia, and...
A 5-year-old boy presented with subacute motor regression since age 2.5 years. Examination revealed spasticity of bilateral lower extremities, generalized dystonia, and pseudobulbar palsy. Investigations revealed raised plasma lactate (2.5 mmol/L, normal range 0.8-1.5 mmol/L) and no evidence of sideroblastic anemia. Neuroimaging showed cavitating leukoencephalopathy with involvement of long tracts (corticospinal, spinothalamic tracts) and dorsolateral columns of cervicothoracic cord (Figures 1 and 2). A next-generation sequencing test identified a novel homozygous missense variant (c.171C > A, p.Phe57Leu) in exon 1 of the Glutaredoxin-5 (GLRX5) gene.
Topics: Male; Humans; Child, Preschool; Hyperglycinemia, Nonketotic; Glutaredoxins; Mutation, Missense; Homozygote; Exons
PubMed: 38175985
DOI: 10.1212/WNL.0000000000208105 -
Journal of Stroke and Cerebrovascular... Mar 2016The purpose of this study was to analyze clinical features and related factors of poststroke pathological laughing and crying (PSPLC) and to differentiate PSPLC patients...
OBJECTIVES
The purpose of this study was to analyze clinical features and related factors of poststroke pathological laughing and crying (PSPLC) and to differentiate PSPLC patients with and without pseudobulbar signs.
METHODS
We performed a case-control study in which 56 patients with PSPLC were matched to 56 control stroke patients by age and gender. The pathological laughing and crying scale was used to identify patients with PSPLC. Characteristics of PSPLC outbursts, presence of pseudobulbar signs and autonomic symptoms, lesion locations, and different clinical data were analyzed. Mild cognitive impairment (MCI) was evaluated by the Montreal Cognitive Assessment. Poststroke anger proneness (PSAP) was evaluated by comparison of the patients' premorbid states.
RESULTS
Significantly more patients in the PSPLC group showed MCI, PSAP, and pseudobulbar signs than those in the control group. Most patients with PSPLC showed bilateral multiple lesions and the pons (especially the bilateral paramedian basal and basal-tegmental areas) stood out as the most important lesion location. Logistic regression analysis showed that pontine lesion, MCI, and PSAP were independently related to PSPLC; however, the presence of pseudobulbar signs was not related. PSPLC patients with pseudobulbar signs showed more recurrent strokes in the previous 2 years, more severe neurological deficits, as well as higher severity of PSPLC. In addition, more patients in the group with pseudobulbar signs showed concomitant autonomic symptoms.
CONCLUSIONS
PSPLC, MCI, and PSAP could be manifestations of a more general disorder, in which pontine lesion plays an important role. PSPLC patients with pseudobulbar signs and those without show different features.
Topics: Aged; Case-Control Studies; Cognition Disorders; Crying; Female; Follow-Up Studies; Humans; Laughter; Logistic Models; Magnetic Resonance Imaging; Male; Middle Aged; Pons; Pseudobulbar Palsy; Retrospective Studies; Severity of Illness Index; Social Behavior Disorders; Stroke
PubMed: 26683594
DOI: 10.1016/j.jstrokecerebrovasdis.2015.11.003 -
JAMA Internal Medicine Feb 2019In 2010, the US Food and Drug Administration (FDA) approved a combination of dextromethorphan hydrobromide and quinidine sulfate for the treatment of pseudobulbar affect...
Assessment of Use of Combined Dextromethorphan and Quinidine in Patients With Dementia or Parkinson Disease After US Food and Drug Administration Approval for Pseudobulbar Affect.
IMPORTANCE
In 2010, the US Food and Drug Administration (FDA) approved a combination of dextromethorphan hydrobromide and quinidine sulfate for the treatment of pseudobulbar affect after studies in patients with amyotrophic lateral sclerosis (ALS) or multiple sclerosis (MS). This medication, however, may be commonly prescribed in patients with dementia and/or Parkinson disease (PD).
OBJECTIVE
To investigate the prescribing patterns of dextromethorphan-quinidine, including trends in associated costs.
DESIGN, SETTING, AND PARTICIPANTS
This population-based cohort study of patients prescribed dextromethorphan-quinidine used data from 2 commercial insurance databases, Optum Clinformatics Data Mart and Truven Health MarketScan. The Medicare Part D Prescription Drug Program data set was used to evaluate numbers of prescriptions and total reported spending by the Centers for Medicare & Medicaid Services. Patients were included if they were prescribed dextromethorphan-quinidine from October 29, 2010, when the drug was approved, through March 1, 2017, for Optum and December 31, 2015, for Truven. Data were analyzed from December 1, 2017, through August 1, 2018.
MAIN OUTCOMES AND MEASURES
The proportion of patients prescribed dextromethorphan-quinidine with a diagnosis of MS, ALS, or dementia and/or PD, as well as the number of patients with a history of heart failure (a contraindication for the drug).
RESULTS
In the commercial health care databases, 12 858 patients filled a prescription for dextromethorphan-quinidine during the study period. Mean (SD) age was 66.0 (18.5) years, 66.7% were women, and 13.3% had a history of heart failure. Combining results from both databases, few patients had a diagnosis of MS (8.4%) or ALS (6.8%); most (57.0%) had a diagnosis of dementia and/or PD. In the Medicare Part D database, the number of patients prescribed dextromethorphan-quinidine increased 15.3-fold, from 3296 in 2011 to 50 402 in 2016. Reported spending by Centers for Medicare & Medicaid Services on this medication increased from $3.9 million in 2011 to $200.4 million in 2016.
CONCLUSIONS AND RELEVANCE
Despite approval by the FDA for pseudobulbar affect based on studies of patients with ALS or MS, dextromethorphan-quinidine appears to be primarily prescribed for patients with dementia and/or PD.
Topics: Aged; Amyotrophic Lateral Sclerosis; Dementia; Dextromethorphan; Drug Combinations; Excitatory Amino Acid Antagonists; Female; Humans; Male; Middle Aged; Multiple Sclerosis; Parkinson Disease; Pseudobulbar Palsy; Quinidine; United States; United States Food and Drug Administration
PubMed: 30615021
DOI: 10.1001/jamainternmed.2018.6112 -
BioMed Research International 2021To investigate the etiology, clinical as well as neuroimaging characteristics, and outcomes after proper treatment in a series of 18 patients with osmotic demyelination...
OBJECTIVE
To investigate the etiology, clinical as well as neuroimaging characteristics, and outcomes after proper treatment in a series of 18 patients with osmotic demyelination syndrome.
METHODS
Medical records, including video records, of 18 patients with osmotic demyelination syndrome were retrospectively examined. Demographic and clinical information, imaging results, plans of management, and outcomes during the follow-up period were collected and analyzed.
RESULTS
Eighteen patients, including 10 males and 8 females, were included in the present study. The mean age at diagnosis of CNS insult was 47.4 ± 13.3 years (ranged from 30 to 78 years). Etiologies included rapidly corrected hyponatremia (50%), alcoholism (27.8%), and others. Neurological manifestations included encephalopathy (61.1%), dysphonia (50%), extrapyramidal symptoms (38.9%), and seizures (22.2%). Neuroimaging results showed that 6 patients (33.3%) had central pontine myelinolysis, 5 (27.8%) had extrapontine myelinolysis, and 7 (38.9%) had both. After treatment, 12 patients showed improvement and the other 6 did not. Among these patients, those who showed symptoms of encephalopathy had a favorable outcome. The majority of those who presented with mental retardation, seizures, and no other symptoms recovered better than their counterparts who had other symptoms. Nine out of 11 patients with pseudobulbar paralysis and/or extrapyramidal symptoms showed improvement, but the other 2 did not show improvement. Five patients who did not improve after treatment during admission were followed up for 1-3 months with rehabilitation training recommended, and it was found that 3 showed significant improvement after training, and the other 2 did not respond to this training.
CONCLUSIONS
Osmotic demyelination syndrome is a complex disease entity due to a variety of etiologies, manifesting with symptoms involving diverse systems of the brain. Early identification and removal/correction of conditions leading to osmotic demyelination syndrome are the key to prevent and/or manage this disease.
Topics: Adult; Aged; Brain; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Myelinolysis, Central Pontine; Neuroimaging; Osmosis; Prognosis; Retrospective Studies; Treatment Outcome
PubMed: 34136577
DOI: 10.1155/2021/9944632 -
Annals of Neurology Sep 2015Duplication of the LMNB1 gene encoding lamin B1 causes adult-onset autosomal-dominant leukodystrophy (ADLD) starting with autonomic symptoms, which are followed by...
OBJECTIVE
Duplication of the LMNB1 gene encoding lamin B1 causes adult-onset autosomal-dominant leukodystrophy (ADLD) starting with autonomic symptoms, which are followed by pyramidal signs and ataxia. Magnetic resonance imaging (MRI) of the brain reveals characteristic findings. This is the first longitudinal study on this disease. Our objective is to describe the natural clinical and radiological course of LMNB1-related ADLD.
METHODS
Twenty-three subjects in two families with LMNB1 duplications were studied over two decades with clinical assessment and MRI of the brain and spinal cord. They were 29 to 70 years old at their first MRI. Repeated MRIs were performed in 14 subjects over a time period of up to 17 years.
RESULTS
Pathological MRI findings were found in the brain and spinal cord in all examinations (i.e., even preceding clinical symptoms). MRI changes and clinical symptoms progressed in a definite order. Autonomic dysfunction appeared in the fifth to sixth decade, preceding or together with gait and coordination difficulties. Motor signs developed ascending from spastic paraplegia to tetraplegia and pseudobulbar palsy in the seventh decade. There were clinical, radiological, and neurophysiological signs of myelopathy. Survival lasted more than two decades after clinical onset.
INTERPRETATION
LMNB1-related ADLD is a slowly progressive neurological disease. MRI abnormalities of the brain and spinal cord can precede clinical symptoms by more than a decade and are extensive in all symptomatic patients. Spinal cord involvement is a likely contributing factor to early autonomic symptoms and spastic paraplegia.
Topics: Adult; Aged; Brain; Female; Humans; Lamin Type B; Longitudinal Studies; Male; Middle Aged; Pelizaeus-Merzbacher Disease; Radiography; Spinal Cord; Survival Rate
PubMed: 26053668
DOI: 10.1002/ana.24452 -
Zhurnal Nevrologii I Psikhiatrii Imeni... 2022This paper describes two cases of congenital bilateral perisylvian syndrome (CBPS), a rare disorder of late neuronal migration, which is characterized by language delay,...
This paper describes two cases of congenital bilateral perisylvian syndrome (CBPS), a rare disorder of late neuronal migration, which is characterized by language delay, intellectual disorders, epilepsy and bilateral perisylvian polymicrogyria. Pseudobulbar paralysis and orofacial muscles dyspraxia causing drooling and feeding difficulties are common for patients with CBPS. Communicational problems lead to low self-esteem and social maladaptation. Literature data regarding correlation between polymicrogyria topography and speech disorders and articulation impairment severity are presented. The results demonstrate the association of diffuse spreading of bilateral polymicrogyria and more severe speech disorders comparing to mild speech disorders in patients with more local polymicrogyria. Known etiology factors of this syndrome are bilateral cerebral hypoperfusion, brain damage while neuronal migration period, postmigrational vascular insults and gene mutations. Syndrome can be inherited in autosome dominant and X-linked manner. Speech apraxia with normal impressive speech, refractory epileptic seizures and status dysraphicus must be red flags for a physician regarding this syndrome. Overnight video-EEG monitoring and brain MRI confirm a thesis that this syndrome is underdiagnosed in everyday clinical practice.
Topics: Abnormalities, Multiple; Cerebral Cortex; Child; Humans; Intellectual Disability; Magnetic Resonance Imaging; Malformations of Cortical Development; Polymicrogyria; Speech Disorders; Syndrome
PubMed: 36170094
DOI: 10.17116/jnevro202212209221 -
Child's Nervous System : ChNS :... Jun 2020Cerebellar mutism (CM), pseudobulbar palsy, posterior fossa syndrome (PFS), and cerebellar cognitive affective syndrome (CCAS) are terms that have been used, sometimes... (Review)
Review
Pediatric post-operative cerebellar mutism syndrome, cerebellar cognitive affective syndrome, and posterior fossa syndrome: historical review and proposed resolution to guide future study.
BACKGROUND
Cerebellar mutism (CM), pseudobulbar palsy, posterior fossa syndrome (PFS), and cerebellar cognitive affective syndrome (CCAS) are terms that have been used, sometimes interchangeably, to refer to the complex neurological constellation that occurs following surgical removal of cerebellar and fourth ventricular tumors, mostly in children, but also sometimes in adults.
METHODS
This paper reviews the origins of what is now regarded as pediatric post-operative cerebellar mutism, the cerebellar cognitive affective syndrome, and the neurological manifestations of injury to or disruption of brainstem and cerebellar structures. It examines the specific components of each of these phenomena in the context of the evolving understanding of the role of the cerebellum in nervous system function.
RESULTS
Children undergoing surgical management of tumors in the posterior cranial fossa are at risk of experiencing cranial neuropathies, corticospinal damage, cerebellar ataxia and related motor disorders, neuropsychiatric and cognitive changes, and in some patients, mutism. These clinical presentations are differentiated from each other and examined in the context of the relevant anatomical structures and distributed neural circuits. The term posterior fossa syndrome is not sufficiently helpful in distinguishing the different elements of the clinical phenomena from each other, and because of this lack of precision and specificity, there is consensus among investigators in the international Posterior Fossa Society that the designation be retired.
CONCLUSIONS
Using contemporary brain imaging methods and guided by careful clinical observation and meticulous definition of clinical phenomenology, it is now feasible to perform detailed structure function correlation analyses to achieve two critical goals in the care of children with tumors in the posterior cranial fossa. The first goal is to identify and understand the neural circuits responsible for the different manifestations-arousal, cranial neuropathies, long tract signs, cerebellar motor syndrome, cerebellar vestibular syndrome, cerebellar cognitive affective syndrome including emotional dyscontrol, and mutism. The second goal is to transform this knowledge into practical clinical intervention, preventing the complications inherent in the necessary surgery whenever possible, and develop new approaches to treatment with methods including brain modulation targeting interconnected nodes of the damaged neural circuits.
Topics: Adult; Cerebellar Diseases; Cerebellar Neoplasms; Cerebellum; Child; Cognition; Cranial Fossa, Posterior; Humans; Mutism; Postoperative Complications
PubMed: 31240391
DOI: 10.1007/s00381-019-04253-6 -
Zhongguo Zhen Jiu = Chinese Acupuncture... Apr 2022To analyze the acupoint selection rules of acupuncture for pseudobulbar palsy dysphagia using data mining technology.
OBJECTIVE
To analyze the acupoint selection rules of acupuncture for pseudobulbar palsy dysphagia using data mining technology.
METHODS
The literature of acupuncture for pseudobulbar palsy dysphagia published from January 1, 1990 to May 1, 2021 was retrieved from CNKI, SinoMed, Wanfang, VIP, and PubMed databases. Acupuncture prescription database was established. The frequency of acupoint selection was analyzed by Microsoft Excel 2016; Apriori algorithm was used to analyze the association rules and draw the high-frequency acupoint co-occurrence network diagram; SPSS21.0 was used to perform clustering analysis.
RESULTS
A total of 87 literature was included, involving 89 acupuncture prescriptions and 71 acupoints. Fengchi (GB 20) was the most frequently-used acupoint; the commonly-selected meridians were gallbladder meridian, conception vessel, governor vessel and stomach meridian; the acupoints located at the neck were the most frequently-used acupoints; the crossing points were commonly selected among the special acupoints. The most commonly-used acupoint combination was Jinjin (EX-HN 12) plus Yuye (EX-HN 13).
CONCLUSION
The modern acupuncture for pseudobulbar palsy dysphagia usually selects local acupoints, especially the neck acupoints such as Fengchi (GB 20) and Lianquan (CV 23). The acupoints in the front and back are concurrently selected with needles towards the disease location.
Topics: Acupuncture Points; Acupuncture Therapy; Deglutition Disorders; Humans; Meridians; Pseudobulbar Palsy
PubMed: 35403412
DOI: 10.13703/j.0255-2930.20210616-k0003 -
Frontiers in Neurology 2022Up-to-date, accurate information on the disease burden of motor neuron disease (MND) is the cornerstone for evidence-based resource allocation and healthcare planning....
Up-to-date, accurate information on the disease burden of motor neuron disease (MND) is the cornerstone for evidence-based resource allocation and healthcare planning. We aimed to estimate the burden of MND globally from 1990 to 2019, as part of the Global Burden of Disease, Injuries and Risk Factor (GBD) study. Amyotrophic lateral sclerosis, progressive muscular atrophy, primary lateral sclerosis, pseudobulbar palsy, spinal muscular atrophy and hereditary spastic paraplegia- were included for analysis as MNDs. We measured age-standardized incidence, prevalence, death, and disability-adjusted life-years (DALYs) in 204 countries and territories worldwide from 1990 to 2019 using spatial Bayesian analyses. The effects of age, sex, and the sociodemographic index (measures of income per capita, education, and fertility) on incidence, prevalence, death, and disability-adjusted life-years due to MNDs were explored. According to 2019 GBD estimates, there were ~268,673 [95% uncertainty interval (UI), 213,893-310,663] prevalent cases and 63,700 (95% UI, 57,295-71,343) incident cases of MND worldwide. In 2019, MND caused 1,034,606 (95% UI, 979,910-1,085,401) DALYs and 39,081 (95% UI, 36,566-41,129) deaths worldwide. The age-standardized rates of prevalence, incidence, death, and DALYs for MNDs in 2019 were 3.37 (95% UI, 2.9-3.87) per 100,000 people, 0.79 (95% UI, 0.72-0.88) per 100,000 people, 0.48 (95% UI, 0.45-0.51) per 100,000 people, and 12.66 (95% UI, 11.98-13.29) per 100,000 people, respectively. The global prevalence and deaths due to MND in 2019 were increased (1.91% [95% UI, 0.61-3.42] and 12.39% [95% UI, 5.81-19.27], respectively) compared to 1990, without significant change in incidence. More than half of the prevalence and deaths due to MND occurred in three high-income regions (North America, Western Europe, and Australasia). In most cases, the prevalence, incidence, and DALYs of MNDs were high in regions with high sociodemographic index; however, in high-income East Asia, these were relatively low compared to similar sociodemographic index groups elsewhere. The burden of MND increased between 1990 and 2019. Its expected increase in the future highlights the importance of global and national healthcare planning using more objective evidence. Geographical heterogeneity in the MND burden might suggest the influences of sociodemographic status and genetic background in various regions.
PubMed: 35528743
DOI: 10.3389/fneur.2022.864339