-
Neurology Oct 2009To systematically review evidence bearing on the management of patients with amyotrophic lateral sclerosis (ALS). (Review)
Review
Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: multidisciplinary care, symptom management, and cognitive/behavioral impairment (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology.
OBJECTIVE
To systematically review evidence bearing on the management of patients with amyotrophic lateral sclerosis (ALS).
METHODS
The authors analyzed studies from 1998 to 2007 to update the 1999 practice parameter. Topics covered in this section include breaking the news, multidisciplinary clinics, symptom management, cognitive and behavioral impairment, communication, and palliative care for patients with ALS.
RESULTS
The authors identified 2 Class I studies, 8 Class II studies, and 30 Class III studies in ALS, but many important areas have been little studied. More high-quality, controlled studies of symptomatic therapies and palliative care are needed to guide management and assess outcomes in patients with ALS.
RECOMMENDATIONS
Multidisciplinary clinic referral should be considered for managing patients with ALS to optimize health care delivery and prolong survival (Level B) and may be considered to enhance quality of life (Level C). For the treatment of refractory sialorrhea, botulinum toxin B should be considered (Level B) and low-dose radiation therapy to the salivary glands may be considered (Level C). For treatment of pseudobulbar affect, dextromethorphan and quinidine should be considered if approved by the US Food and Drug Administration (Level B). For patients who develop fatigue while taking riluzole, withholding the drug may be considered (Level C). Because many patients with ALS demonstrate cognitive impairment, which in some cases meets criteria for dementia, screening for cognitive and behavioral impairment should be considered in patients with ALS (Level B). Other management strategies all lack strong evidence.
Topics: Amyotrophic Lateral Sclerosis; Cognition Disorders; Dementia; Evidence-Based Medicine; Fatigue; Humans; Muscle Cramp; Palliative Care; Patient Care Team; Pseudobulbar Palsy; Sialorrhea; Terminal Care; Truth Disclosure
PubMed: 19822873
DOI: 10.1212/WNL.0b013e3181bc01a4 -
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 -
Developmental Medicine and Child... Feb 2000Foix-Chavany-Marie syndrome (FCMS) is a distinct clinical picture of suprabulbar (pseudobulbar) palsy due to bilateral anterior opercular lesions. Symptoms include... (Review)
Review
Foix-Chavany-Marie syndrome (FCMS) is a distinct clinical picture of suprabulbar (pseudobulbar) palsy due to bilateral anterior opercular lesions. Symptoms include anarthria/severe dysarthria and loss of voluntary muscular functions of the face and tongue, and problems with mastication and swallowing with preservation of reflex and autonomic functions. FCMS may be congenital or acquired as well as persistent or intermittent. The aetiology is heterogeneous; vascular events in adulthood, nearly exclusively affecting adults who experience multiple subsequent strokes; CNS infections; bilateral dysgenesis of the perisylvian region; and epileptic disorders. Of the six cases reported here, three children had FCMS as the result of meningoencephalitis, two children had FCMS due to a congenital bilateral perisylvian syndrome, and one child had intermittent FCMS due to an atypical benign partial epilepsy with partial status epilepticus. The congenital dysgenetic type of FCMS and its functional epileptogenic variant share clinical and EEG features suggesting a common pathogenesis. Consequently, an increased vulnerability of the perisylvian region to adverse events in utero is discussed. In honour of Worster-Drought, who described the clinical entity in children 40 years ago, the term Worster-Drought syndrome is proposed for this unique disorder in children.
Topics: Adolescent; Brain; Brain Diseases; Bulbar Palsy, Progressive; Child; Child, Preschool; Cranial Nerve Diseases; Deglutition Disorders; Developmental Disabilities; Diagnosis, Differential; Female; Humans; Infant; Male; Meningoencephalitis; Speech Disorders; Syndrome; Tomography, X-Ray Computed
PubMed: 10698330
DOI: 10.1017/s0012162200000232 -
Neurology and Clinical Neuroscience May 2017Early clinical diagnosis of progressive supranuclear palsy (PSP) remains challenging.
BACKGROUND AND AIM
Early clinical diagnosis of progressive supranuclear palsy (PSP) remains challenging.
AIM
We attempted to identify any sign or symptom to diagnose PSP earlier.
METHODS
A total of 401 patients, 40 with PSP and 361 with other neurodegenerative disorders, were included. We followed these patients for at least 1 year since 2009. We reviewed the signs and symptoms of patients with PSP in a standardized manner, and observed four manifestations: "vertical supranuclear gaze abnormality," "movement disorders," "pseudobulbar palsy" and "dementia of frontal type." Features, such as symmetric parkinsonism, freezing of gait, postural instability, dysarthria and/or dysphagia, or dementia of frontal type, were considered core clinical features.
RESULTS
In patients with PSP, "movement disorders" was the most common manifestation, whereas "vertical supranuclear gaze abnormality" was uncommon during the early disease course. A total of 16 patients fulfilled the National Institute for Neurological Disorders and Stroke and Society for PSP criteria for possible PSP at their first clinic visit. Of the remaining 24 patients, 15 presented with one or more core clinical features before fulfilling the criteria for possible PSP; nine patients had a clinical diagnosis of PSP but never fulfilled the criteria. A total of 49 of the 361 patients with other neurodegenerative disorders had core clinical features. A comparison showed that freezing of gait differentiated the groups the best over the disease course.
CONCLUSION
Freezing of gait is an early feature that might improve the clinical diagnosis of PSP, whereas vertical supranuclear gaze abnormality is not.
PubMed: 28702192
DOI: 10.1111/ncn3.12122 -
Experimental and Therapeutic Medicine Jul 2022Rare neurodegenerative disorders may be considered in the differential diagnosis of Parkinsonism in patients with schizophrenia who show worsening signs of Parkinsonism...
Rare neurodegenerative disorders may be considered in the differential diagnosis of Parkinsonism in patients with schizophrenia who show worsening signs of Parkinsonism under treatment with antipsychotics. To the best of our knowledge, the present study is the first report describing probable progressive supranuclear palsy (PSP) in a patient with chronic schizophrenia. A 64-year-old man presented with hallucinations, delusions and asociality. He had received treatment with both typical and atypical antipsychotics for ~13 years. He began experiencing short-term memory impairment and bradykinesia two years before presentation, and then showed increased dysphagia, upper-limb muscle rigidity, extrapyramidal symptoms, vision loss and photophobia. Psychological manifestations included chronic depression, irritability and, occasionally, euphoria. His gait worsened, leading to repeated falls. Antipsychotics were discontinued, and the patient was almost completely dependent on a wheelchair in daily life. In a neurology consultation, he was diagnosed with probable progressive supranuclear palsy-Richardson's syndrome presenting as vertical supranuclear gaze palsy and prominent postural instability with falls. Brain magnetic resonance imaging (MRI) revealed atrophy of the mesencephalic tegmentum, and I-ioflupane single-photon emission computed tomography (SPECT) revealed reduced bilateral striatal reuptake. Overall, PSP should be considered in patients with schizophrenia with worsening Parkinsonism, especially when it is accompanied by supranuclear ophthalmoplegia, pseudobulbar palsy, dysarthria and dystonic stiffness of the neck and upper body. In the present case, the combination of brain MRI and I-ioflupane SPECT helped to discriminate PSP from other Parkinsonian syndromes, including drug-induced Parkinsonism, in the differential diagnosis.
PubMed: 35761809
DOI: 10.3892/etm.2022.11411 -
Medicina Oral, Patologia Oral Y Cirugia... Mar 2006Facial nerve paralysis (FNP) is the most common cranial nerve disorders and it results in a characteristic facial distortion that is determined in part by the nerves... (Review)
Review
Facial nerve paralysis (FNP) is the most common cranial nerve disorders and it results in a characteristic facial distortion that is determined in part by the nerves branches involved. With multiples etiologies, these included trauma, tumor formation, idiopathic conditions, cerebral infarct, pseudobulbar palsy and viruses. FNP during dental treatment is very rare and can be associated with the injection of local anesthetic, prolonged attempt to remove a mandibular third molar and subsequent infection. We report a case of a 21 years-old black woman who developed a Bell's palsy after an impacted third molar surgery under local anaesthesia, present a FNP classified like a grade IV by the House-Brackmann's grading system. The treatment was based of prescription of a cytidine and uridine complex (NUCLEO CMP tm) one tablet twice per day and a close follow up. Three months later that had beginning the treatment, the patient recovery her normal facial muscle activity.
Topics: Adult; Facial Nerve Diseases; Facial Paralysis; Female; Humans; Mandible; Molar, Third; Oral Surgical Procedures; Tooth, Impacted
PubMed: 16505799
DOI: No ID Found -
African Health Sciences Mar 2021Pseudobulbar palsy (PBP) is characterized by supranuclear lesions in the corticobulbar pathway. Neoplasia, inflammatory, demyelinating, and stroke are possible... (Review)
Review
INTRODUCTION
Pseudobulbar palsy (PBP) is characterized by supranuclear lesions in the corticobulbar pathway. Neoplasia, inflammatory, demyelinating, and stroke are possible etiologies of this disorder.
CASE REPORT
We report an elderly female who presented with dysarthria. She was dysarthric with a hypernasal voice, no apraxia or aphasia was observed. Tongue movements were slow with limited amplitude. Her soft palate dropped bilaterally; gag reflex was present. Also, she reported swallowing difficulty and choking with her saliva. Bilateral vertical and horizontal gaze were intact to either voluntary or oculocephalic movements. A cranial CT scan was suggestive of artery of Percheron (AOP) infarction. Brain magnetic resonance imaging showed hypersignal on diffusion-weighted and T2-weighted images and hyposignal on apparent diffusion coefficient in both thalami. CT angiography scan revealed an AOP originating from the left posterior cerebral artery. The swallowing study with a videofluoroscopic demonstrated oral and pharyngeal phases with severe dysfunction.
CONCLUSION
To the authors' knowledge, there are two cases of individuals with artery of Percheron infarction who developed PBP associated with other clinical syndromes. Still, isolated PBP following infarction of Percheron's artery was not reported. We hypothesized that the PBP may have occurred because of the existence of vascular territory variations in the perforating arteries that arise from the AOP.
Topics: Aged; Arteries; Brain; Cerebral Infarction; Computed Tomography Angiography; Diffusion Magnetic Resonance Imaging; Dysarthria; Female; Humans; Infarction; Magnetic Resonance Imaging; Neuroimaging; Pseudobulbar Palsy; Thalamus; Tomography, X-Ray Computed
PubMed: 34394294
DOI: 10.4314/ahs.v21i1.22 -
Evidence-based Complementary and... 2023The objective is to evaluate the clinical efficacy of cross electro-nape-acupuncture (CENA) in the treatment of pseudobulbar palsy in patients with tracheotomy...
A Multicentre Randomized Controlled Clinical Study of Cross Electro-Nape-Acupuncture (CENA) for the Treatment of Pseudobulbar Palsy in Patients with Tracheotomy Intubation for Severe Cerebral Haemorrhage.
OBJECTIVE
The objective is to evaluate the clinical efficacy of cross electro-nape-acupuncture (CENA) in the treatment of pseudobulbar palsy in patients with tracheotomy intubation for severe cerebral haemorrhage and to provide an innovative acupuncture method for the treatment of such patients.
METHODS
A total of 126 patients from six trial centres who met the inclusion criteria were randomly divided into three groups according to the random number table method in the ratio of 1 : 1 : 1, with 42 patients in each group, and the three groups were divided into CENA group, electro-acupuncture group, and acupuncture group. Each group's acupuncture treatment lasted for 30 minutes, and the needles were removed at the end of the treatment. Acupuncture was performed once a week on Sunday only and twice a day from Monday to Saturday, a total of 4 weeks of treatment. The SWT, FDA, ChSWAL-QOL, and TCRGS scores of the three groups of patients before and after treatment were compared to evaluate the effect of CENA on remodelling the function of swallowing reflex and cough reflex and promoting the recovery of dysarthria and swallowing quality of life in pseudobulbar palsy in patients with tracheotomy intubation for severe cerebral haemorrhage.
RESULTS
After treatment, the WST and TCRGS grade scores decreased and the FDA and ChSWAL-QOL scores increased significantly in all three groups compared with the pretreatment scores and were statistically significant. There was a significant difference between the three groups for these four indicators after treatment; the comparison between groups showed significant differences in the CENA group compared to the electro-acupuncture and acupuncture groups. The efficiency of the CENA group was significantly better than that of the electro-acupuncture and acupuncture groups.
CONCLUSION
Compared with the acupuncture and electro-acupuncture groups, the CENA could better promote the remodelling of swallowing function and cough reflex function, promote the recovery of dysarthria, and better improve the quality of life of patients with pseudobulbar palsy from tracheotomy intubation in severe cerebral haemorrhage.
PubMed: 37152374
DOI: 10.1155/2023/9304934 -
The Lancet. Neurology Dec 2018Understanding how prevalence, incidence, and mortality of motor neuron diseases change over time and by location is crucial for understanding the causes of these...
BACKGROUND
Understanding how prevalence, incidence, and mortality of motor neuron diseases change over time and by location is crucial for understanding the causes of these disorders and for health-care planning. Our aim was to produce estimates of incidence, prevalence, and disability-adjusted life-years (DALYs) for motor neuron diseases for 195 countries and territories from 1990 to 2016 as part of the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2016.
METHODS
The motor neuron diseases included in this study were amyotrophic lateral sclerosis, spinal muscular atrophy, hereditary spastic paraplegia, primary lateral sclerosis, progressive muscular atrophy, and pseudobulbar palsy. Incidence, prevalence, and DALYs were estimated using a Bayesian meta-regression model. We analysed 14 165 site-years of vital registration cause of death data using the GBD 2016 cause of death ensemble model. The 84 risk factors quantified in GBD 2016 were tested for an association with incidence or death from motor neuron diseases. We also explored the relationship between Socio-demographic Index (SDI; a compound measure of income per capita, education, and fertility) and age-standardised DALYs of motor neuron diseases.
FINDINGS
In 2016, globally, 330 918 (95% uncertainty interval [UI] 299 522-367 254) individuals had a motor neuron disease. Motor neuron diseases have caused 926 090 (881 566-961 758) DALYs and 34 325 (33 051-35 364) deaths in 2016. The worldwide all-age prevalence was 4·5 (4·1-5·0) per 100 000 people, with an increase in age-standardised prevalence of 4·5% (3·4-5·7) over the study period. The all-age incidence was 0·78 (95% UI 0·71-0·86) per 100 000 person-years. No risk factor analysed in GBD showed an association with motor neuron disease incidence. The largest age-standardised prevalence was in high SDI regions: high-income North America (16·8, 95% UI 15·8-16·9), Australasia (14·7, 13·5-16·1), and western Europe (12·9, 11·7-14·1). However, the prevalence and incidence were lower than expected based on SDI in high-income Asia Pacific.
INTERPRETATION
Motor neuron diseases have low prevalence and incidence, but cause severe disability with a high fatality rate. Incidence of motor neuron diseases has geographical heterogeneity, which is not explained by any risk factors quantified in GBD, suggesting other unmeasured risk factors might have a role. Between 1990 and 2016, the burden of motor neuron diseases has increased substantially. The estimates presented here, as well as future estimates based on data from a greater number of countries, will be important in the planning of services for people with motor neuron diseases worldwide.
FUNDING
Bill & Melinda Gates Foundation.
Topics: Age Distribution; Aged; Aged, 80 and over; Bayes Theorem; Cause of Death; Disabled Persons; Female; Global Burden of Disease; Humans; Incidence; Life Expectancy; Male; Middle Aged; Motor Neuron Disease; Prevalence
PubMed: 30409709
DOI: 10.1016/S1474-4422(18)30404-6 -
Surgical Neurology Oct 1997Papillary tumors of the temporal bone are very rare but aggressive neoplasms. In the past, a middle-ear origin was presumed. Only recently convincing evidence exists... (Review)
Review
BACKGROUND
Papillary tumors of the temporal bone are very rare but aggressive neoplasms. In the past, a middle-ear origin was presumed. Only recently convincing evidence exists that these tumors in fact arise from the endolymphatic sac.
METHODS
We present a case of an endolymphatic sac tumor (ELST) with detailed clinical, imaging, operative, and pathologic data. The literature on this rare tumor type is reviewed.
RESULTS
This 63-year-old woman had a progressive mass lesion in the temporal bone for a period of more than 35 years, resulting in unilateral fifth to eleventh cranial nerve palsy, progressive ataxia, and a pyramidal and pseudobulbar syndrome. Computerized tomography (CT) and magnetic resonance imaging (MRI) showed a tumor invading the pars squamosa and petrosa of the temporal bone, and extending into the middle and posterior fossa. Angiography demonstrated a hypervascular tumor mass. The patient underwent surgery, with nonradical removal of a tumor. Histologic examination demonstrated a papillary ELST. A search through the literature revealed 36 patients with ELST, based on convincing anatomic and histologic considerations.
CONCLUSIONS
It is important to make a distinction between ELST and the more benign middle-ear adenomas, since this leads to a different treatment and prognosis. ELST frequently invades the surrounding structures and extends intracranially. The treatment of choice is a radical resection, although complete resection is impossible in most of the cases. The value of adjunctive radiation therapy remains controversial.
Topics: Adenoma; Carotid Artery, Internal; Cerebral Angiography; Craniopharyngioma; Ear Neoplasms; Endolymphatic Sac; Female; Follow-Up Studies; Humans; Magnetic Resonance Imaging; Middle Aged; Neoplasm Invasiveness; Skull Neoplasms; Temporal Bone; Tomography, X-Ray Computed
PubMed: 9315135
DOI: 10.1016/s0090-3019(96)00553-8