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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 -
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 -
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 -
Neural Regeneration Research Feb 2016Tongguan Liqiao acupuncture therapy has been shown to effectively treat dysphagia after stroke-based pseudobulbar paralysis. We presumed that this therapy would be...
Tongguan Liqiao acupuncture therapy has been shown to effectively treat dysphagia after stroke-based pseudobulbar paralysis. We presumed that this therapy would be effective for dysphagia after bulbar paralysis in patients with brainstem infarction. Sixty-four patients with dysphagia following brainstem infarction were recruited and divided into a medulla oblongata infarction group (n = 22), a midbrain and pons infarction group (n = 16), and a multiple cerebral infarction group (n = 26) according to their magnetic resonance imaging results. All patients received Tongguan Liqiao acupuncture for 28 days. The main acupoints were Neiguan (PC6), Renzhong (DU26), Sanyinjiao (SP6), Fengchi (GB20), Wangu (GB12), and Yifeng (SJ17). Furthermore, the posterior pharyngeal wall was pricked. Before and after treatment, patient swallowing functions were evaluated with the Kubota Water Test, Fujishima Ichiro Rating Scale, and the Standard Swallowing Assessment. The Barthel Index was also used to evaluate their quality of life. Results showed that after 28 days of treatment, scores on the Kubota Water Test and Standard Swallowing Assessment had decreased, but scores on the Fujishima Ichiro Rating Scale and Barthel Index had increased in each group. The total efficacy rate was 92.2% after treatment, and was most obvious in patients with medulla oblongata infarction (95.9%). These findings suggest that Tongguan Liqiao acupuncture therapy can repair the connection of upper motor neurons to the medulla oblongata motor nucleus, promote the recovery of brainstem infarction, and improve patient's swallowing ability and quality of life.
PubMed: 27073382
DOI: 10.4103/1673-5374.177737 -
Frontiers in Neurology 2019To investigate the anatomical characteristics, clinical manifestations, and imaging features of bilateral cerebral peduncular infarction. A retrospective analysis was...
To investigate the anatomical characteristics, clinical manifestations, and imaging features of bilateral cerebral peduncular infarction. A retrospective analysis was performed on 11 patients diagnosed with bilateral cerebral peduncular infarction in the Affiliated Hospital of Xuzhou Medical University from December 2014 to December 2018. Their clinical and imaging features were analyzed and summarized in combination with the relevant national and international literature. Among all the patients, there were eight cases with a history of hypertension, four cases with a history of diabetes mellitus, and four cases with a history of smoking. Conscious disturbance was observed in nine cases, quadriplegia in seven cases, pseudobulbar paralysis in three cases, and ataxia in one case. Brain magnetic resonance (MR) scans of bilateral cerebral peduncles showed patchy abnormal shadows with a hypointense signal on T1-weighted imaging (T1WI) and apparent diffusion coefficient (ADC) and hyperintense signal on T2-weighted imaging (T2WI), fluid-attenuated inversion recovery (FLAIR), and diffusion-weighted imaging (DWI). Computed tomography angiography (CTA) scans of head and neck showed severe stenosis or occlusion of vertebral artery, basilar artery, or posterior cerebral artery. All the patients received standardized treatment for cerebral infarction. Six patients died while five were left disabled. Bilateral cerebral peduncle infarction may be related to cerebral perfusion insufficiency caused by the stenosis or occlusion of vertebrobasilar artery and its branches. The main clinical manifestations are locked-in syndrome and persistent vegetative state. The specific imaging feature of "Mickey Mouse ear"-like infarction is associated with a poor prognosis.
PubMed: 31708855
DOI: 10.3389/fneur.2019.01107 -
European Journal of Case Reports in... 2021Foix-Chavany-Marie syndrome (FCMS) is a type of pseudobulbar palsy that affects facio-pharyngo-glosso-masticatory muscles.
INTRODUCTION
Foix-Chavany-Marie syndrome (FCMS) is a type of pseudobulbar palsy that affects facio-pharyngo-glosso-masticatory muscles.
MATERIALS AND METHODS
A 62-year-old man was admitted to the emergency department after 9 hours of acute dysarthria and dysphagia. MRI showed restricted diffusion in the right operculum on diffusion-weighted imaging (DWI). No thrombolytic therapy was given. The patient had a history of mechanical aortic valve replacement under anticoagulation with a vitamin K antagonist. Work-up demonstrated suboptimal levels of INR. Due to severe dysphagia during hospitalization, a percutaneous endoscopic gastrostomy (PEG) was performed.
RESULTS
The patient was discharged 5 days later, with a modified Rankin scale (mRs) score of 3, and secondary stroke prevention. He had achieved an excellent functional outcome (mRs 1) at 6-month follow-up.
CONCLUSION
Our patient had a satisfactory recovery due to prompt diagnosis, secondary stroke prevention, and compliance with treatment.
LEARNING POINTS
In the presence of acute dysarthria and dysphagia, Foix-Chavany-Marie syndrome (FCMS) should be considered.FCMS may occur in the presence of unilateral opercular stroke.Swallowing and speech therapy play an essential role in rehabilitation after the acute setting.
PubMed: 33987126
DOI: 10.12890/2021_002462 -
BMJ Case Reports Oct 2021We present a case of a 73-year-old man who developed sudden onset dysarthria, dysphagia and bilateral facial weakness with automato-voluntary dissociation, which...
We present a case of a 73-year-old man who developed sudden onset dysarthria, dysphagia and bilateral facial weakness with automato-voluntary dissociation, which deteriorated rapidly to anarthria and aphonia within a few days. MRI scan of the head showed acute infarct in right internal capsule and an old infarct in the left corona radiata while the rest of the investigations were normal. Based on these findings, diagnosis was thought to be subopercular syndrome. He recovered significantly in a few weeks' time.
Topics: Aged; Dysarthria; Humans; Internal Capsule; Magnetic Resonance Imaging; Male; Pseudobulbar Palsy; Syndrome
PubMed: 34711624
DOI: 10.1136/bcr-2021-245613 -
European Journal of Neurology May 2016Familial Creutzfeldt-Jakob disease (fCJD) in Jews of Libyan ancestry is caused by an E200K mutation in the PRNP gene. The typical presenting symptoms include cognitive...
BACKGROUND AND PROPOSE
Familial Creutzfeldt-Jakob disease (fCJD) in Jews of Libyan ancestry is caused by an E200K mutation in the PRNP gene. The typical presenting symptoms include cognitive decline, behavioral changes and gait disturbances; however, some patients may have an unusual presentation such as a stroke-like presentation, alien hand syndrome or visual disturbances. The aim of this paper is to describe uncommon presentations in our series of consecutive patients with E200K fCJD.
METHODS
The study group included consecutive fCJD patients followed up as part of a longitudinal prospective study ongoing since 2003 or hospitalized since 2005. The clinical diagnosis of probable CJD was based on accepted diagnostic criteria and supported by typical magnetic resonance imaging, electroencephalographic findings, elevated cerebrospinal fluid tau protein levels and by genetic testing for the E200K mutation. Disease symptoms and signs were retrieved from the medical files.
RESULTS
The study population included 77 patients (42 men) with a mean age of disease onset of 60.6 ± 7.2 years. The most prevalent presenting symptoms were cognitive decline followed by gait impairment and behavioral changes. However, six patients had an unusual presentation including auditory agnosia, monoparesis, stroke-like presentation, facial nerve palsy, pseudobulbar syndrome and alien hand syndrome.
CONCLUSIONS
Our case series illustrates the wide phenotypic variability of the clinical presentation of patients with fCJD and widens the clinical spectrum of the disease. A high level of clinical suspicion may prove useful in obtaining early diagnosis and therefore avoiding costly and inefficient diagnostic and therapeutic strategies.
Topics: Aged; Animals; Cognition Disorders; Creutzfeldt-Jakob Syndrome; Female; Humans; Jews; Magnetic Resonance Imaging; Male; Middle Aged; Movement Disorders; Mutation; Prion Proteins; Prospective Studies; Symptom Assessment
PubMed: 26806765
DOI: 10.1111/ene.12955 -
BMJ Case Reports Jan 2021A 5-year-old male child of consanguineous parentage, without any adverse perinatal history, presented with progressive cognitive regression predominantly in the language...
A 5-year-old male child of consanguineous parentage, without any adverse perinatal history, presented with progressive cognitive regression predominantly in the language and attention domains, for 2 years. He had simultaneous pyramidal and extrapyramidal involvement, frequent generalised tonic-clonic seizures and recurrent respiratory tract infections. Examination was significant for vertical supranuclear gaze palsy, coarse facial features and splenomegaly. Given the clinical features, in the background of consanguinity and mother's history of spontaneous pregnancy losses, inborn errors of metabolism were suspected. Following relevant investigations including tailored genetic study, Niemann-Pick disease type C (NPC) was diagnosed. Interestingly, MRI brain showed bilateral T2/fluid-attenuated inversion recovery claustrum hyperintensities, which are more commonly associated with autoimmune encephalitis and febrile infection-related epilepsy syndrome and not reported previously in NPC. Additionally, language regression as a presenting manifestation in NPC as opposed to classical dysarthria makes this case truly unique.
Topics: Attention; Child, Preschool; Claustrum; Cognitive Dysfunction; Consanguinity; Dystonia; Electroencephalography; Humans; Language; Magnetic Resonance Imaging; Male; Muscle Spasticity; Niemann-Pick Disease, Type C; Pseudobulbar Palsy; Respiratory Tract Infections; Seizures; Splenomegaly
PubMed: 33495167
DOI: 10.1136/bcr-2020-239630