Bulbar Palsy Research Articles

Steroid-responsive Multifocal Motor Neuropathy with Cranial Manifestations

The typical presentation of multifocal motor neuropathy (MMN) is progressive asymmetric limb weakness. Cranial neuropathy is rare. We report a 28-year-old woman with cranial and bulbar palsies but with typical electrophysiological features of MMN by multifocal motor conduction blocks and serological markers of anti-ganglioside GM1 antibodies. The previous consensus on the treatment of MMN is intravenous immunoglobulins, but our patient responded to oral steroids and had clinical and electrophysiological improvement under continuous low-dose prednisolone treatment. In summary, MMN is a treatable chronic inflammatory disease of peripheral nerves. Cranial neuropathies can be its initial presentation. Electromyography studies are crucial for MMN diagnosis and helpful in monitoring disease activity and treatment responses. Although the previous guideline did not suggest using steroids for MMN, with careful patient selection, low-dose oral steroids can be an effective treatment in patients with relatively minor symptoms.

Unusual Presentation of Double-seronegative Myasthenia Gravis with Positive Anti-LRP4 Antibody: Diagnostic Utility of a Videofluoroscopic Swallowing Study.

An 86-year-old woman was admitted to our hospital with cryptogenic progressive dyspnea and dysphagia following a tracheostomy procedure 4 months prior to presentation. She exhibited fluctuating diplopia, bilateral vocal fold paralysis, normal nerve test results, negative findings for serum anti-acetylcholine receptor and anti-muscle-specific kinase antibodies, and positive findings for anti-LDL-receptor related protein 4 (LRP4). A videofluoroscopic swallowing study (VFSS) with edrophonium revealed an improvement in bulbar paralysis. Consequently, the patient was diagnosed with double-seronegative myasthenia gravis (DSN-MG) and began immunomodulatory therapy. This case emphasizes the diagnostic challenges of bulbar-type DSN-MG and underscores the value of a VFSS with edrophonium for diagnosing this condition.

The clinical practice guideline for the management of amyotrophic lateral sclerosis in Japan-update 2023.

Amyotrophic lateral sclerosis (ALS) is an adult-onset intractable motor neuron disease characterized by selective degeneration of cortical neurons in the frontotemporal lobe and motor neurons in the brainstem and spinal cord. Impairment of these neural networks causes progressive muscle atrophy and weakness that spreads throughout the body, resulting in life-threatening bulbar palsy and respiratory muscle paralysis. However, no therapeutic strategy has yet been established to halt ALS progression. Although evidence for clinical practice in ALS remains insufficient, novel research findings have steadily accumulated in recent years. To provide updated evidence-based or expert consensus recommendations for the diagnosis and management of ALS, the ALS Clinical Practice Guideline Development Committee, approved by the Japanese Society of Neurology, revised and published the Japanese clinical practice guidelines for the management of ALS in 2023. In this guideline, disease-modifying therapies that have accumulated evidence from randomized controlled trials were defined as "Clinical Questions," in which the level of evidence was determined by systematic reviews. In contrast, "Questions and Answers" were defined as issues of clinically important but insufficient evidence, according to reports of a small number of cases, observational studies, and expert opinions. Based on a literature search performed in February 2022, recommendations were reached by consensus, determined by an independent panel, reviewed by external reviewers, and submitted for public comments by Japanese Society of Neurology members before publication. In this article, we summarize the revised Japanese guidelines for ALS, highlighting the regional and cultural diversity of care processes and decision-making. The guidelines cover a broad range of essential topics such as etiology, diagnostic criteria, disease monitoring and treatments, management of symptoms, respiration, rehabilitation, nutrition, metabolism, patient instructions, and various types of care support. We believe that this summary will help improve the daily clinical practice for individuals living with ALS and their caregivers.

Relationships among Speech Intelligibility, Speech Rate, and Maximum Tongue Pressure in Patients with Bulbar Paralysis Type of Amyotrophic Lateral Sclerosis

Relationships among Speech Intelligibility, Speech Rate, and Maximum Tongue Pressure in Patients with Bulbar Paralysis Type of Amyotrophic Lateral Sclerosis

Outcome of Guillain-Barré syndrome with bulbar palsy

Outcome of Guillain-Barré syndrome with bulbar palsy

A Case with Anti-ganglioside Antibodies Showing Multiple Cranial Nerve Palsies Detected on Gadolinium-enhanced Magnetic Resonance Imaging.

The anti-GQ1b IgG antibody is often accompanied by other anti-ganglioside antibodies, which induces various neurological symptoms. We herein report a patient with anti-ganglioside antibodies, including anti-GQ1b IgG and anti-GT1a IgG antibodies, showing bilateral ophthalmoplegia, facial nerve palsies, dysarthria, dysphagia, dysesthesia in both hands, and enhancement of the bilateral oculomotor, abducens, and facial nerves on gadolinium (Gd)-enhanced T1-weighted brain magnetic resonance imaging (MRI). He was first treated with intravenous immunoglobulin, which improved ophthalmoplegia, bulbar palsies, and dysesthesia of hands, but the facial nerve palsies worsened, and Gd enhancement of the brain nerves persisted. High-dose methylprednisolone therapy subsequently improved the facial nerve palsies and Gd enhancement of the cranial nerves. This is the first case with anti-ganglioside antibodies presenting with multiple cranial nerve palsies that was followed to track the changes in the Gd enhancement of cranial nerves on MRI.

Case 319: Multisystemic Smooth Muscle Dysfunction Syndrome.

A 7-year-old Chinese girl presented to a local hospital with a 5-day history of progressive right-sided hemiplegia, expressive aphasia, mild bulbar palsy, and reduced general responsiveness. At presentation, her Glasgow Coma Scale was 11/15 (E4 V1M6). Notably, she had two strokelike episodes approximately 7 and 3 months prior to the current episode, with headache, reduced movement, and numbness in the left hand. She also had an extensive medical history at a young age, including congenital mydriasis, patent ductus arteriosus with ligation, dysautonomia, low blood pressure, hypotonic bladder requiring intermittent catheterization, poor bowel transit, and gallstones. Her immunization record was up to date, and her development was otherwise unremarkable. Her parents and younger sibling were healthy. Her blood tests revealed a mildly increased venous lactate level at 2.3 mmol/L (normal range, 0.7-2.1 mmol/L), without acidosis. Results of a coagulopathy work-up (clotting profile and protein C, protein S, antithrombin 3, and fibrinogen levels) were normal. MRI and MR angiography of the brain were performed at presentation.

Anti-Kv1.4 Antibody-positive Nivolumab-induced Myasthenia Gravis and Myositis Presenting with Bilateral Ptosis and Demonstrating Different Pathophysiologies.

Nivolumab blocks inhibitors of T-cell activation and restores antitumor immunity but promotes T-cell activity in host tissues by blocking inhibition of the T-cell function, resulting in immune-related adverse effects. We herein report an 80-year-old man presenting with nivolumab-related myasthenia gravis with anti-muscular voltage-gated potassium channel-complex (Kv1.4) antibodies. On day 29 after nivolumab administration, he simultaneously developed rapidly progressing right ptosis and left facial paralysis. Nivolumab administration was discontinued. He subsequently presented with bulbar paralysis, dyspnea, and muscle weakness and received intravenous immunoglobulin, methylprednisolone, and plasma exchange. The severity of nivolumab-related myasthenia gravis with anti-Kv1.4 antibodies presented with diverse clinical findings.

A - 101 A Neuropsychological Case Study of Progressive Bulbar Palsy.

There has been limited literature regarding cognitive dysfunction associated with progressive bulbar palsy. This case study presents the neuropsychological profile of a 66-year-old White male diagnosed with progressive bulbar palsy (evolving primary lateral sclerosis) with speech production difficulties. The patient was referred by his neurologist for a neuropsychological evaluation of progressively worsening cognitive changes over the past two years, including difficulties with reading directions, spelling, structuring sentences, thinking of words to write down, and counting. He also described progressively worsening speech production difficulties. During the evaluation, the patient communicated solely through written means. Available MRI results demonstrated subtle evidence of anterior temporal atrophy bilaterally. Additional relevant history includes chronic obstructive pulmonary disease and a remote history of recreational opioid use. Given the patient's speech production difficulties, measures were selected to include those that did not require verbal responses. For the few measures that did require verbal responses, administration was adjusted to allow him to provide written responses. On evaluation, he demonstrated intact orientation, processing speed, receptive language, and visuospatial functioning. In contrast, he demonstrated relative weaknesses on measures of attention, executive functioning (i.e., problem solving and cognitive flexibility), and free recall of information (with intact recognition). Behavioral features were also noted during the evaluation, including impulsivity and disorganization. The case provides preliminary data regarding possible cognitive profiles associated with progressive bulbar palsy, including possible areas of cognitive strengths and weaknesses. This case also highlights the need for further investigation of cognitive profiles of the condition which may assist with treatment planning.

Clinical Profile and Predictors of Outcome of Guillain Barre Syndrome Variants among Children Admitted in the Pediatric Department of a Tertiary Care Hospital, Karachi

Background: Guillain Barre Syndrome (GBS) is one of the leading cause of Acute Flaccid Paralysis presenting in pediatric emergency, marking incidents in Asian countries as 3-4 per 100, 000 population. To improve outcome, an accurate and early recognition of predictors of bad prognosis is required. Objective: To identify requirement of intensive monitoring and aggressive treatment to help the health system in decreasing morbidity and mortality associated with Guillain Barre Syndrome. Materials and Methods: This is a cross-sectional study, conducted at Dr. RKMP Civil Hospital Karachi. Medical records of patients >3 months to 12 years of age, admitted with diagnosis of Guillian Barre syndrome from Jan 2017 to June 2022 were reviewed. Data was analyzed in SPSS version 23. For independent variables, frequency and percentage was used. Results: A total of 46 patients were enrolled in the study, mean age of study participants was 80.26 ± 31.7 months. The most common variant of GBS identified was AIDP in 19 (41.3%) followed by ASMAN 14 (30.4%). A positive association between winter season with 2.7 (95% CI 1.4-5.8) and progression within 7 days with 3.2 (95% CI 1.9-6.7) was found with mortality. Conclusion: Acute inflammatory demyelinating polyneuropathy was the most common variant of Gullian-Barre syndrome with male predominance. Presentation in winter seasons and progression of disease in less than 7 days are risk factors for mortality. Bulbar palsy is an independent risk factor for mechanical ventilation, irrespective of GBS variant. Keywords: Acute inflammatory demyelinating polyneuropathy (AIDP), Guillain Barre Syndrome (GBS), Pediatric population, Bulbar palsay, Areflexia, Acute motor axonal neuropathy (AMAN).

Benefit of high-dose oral riboflavin therapy in riboflavin transporter deficiency.

Riboflavin transporter deficiency (RTD) is a progressive inherited neuropathy of childhood onset, characterised by pontobulbar palsy, sensorineural deafness, sensory ataxia, muscle weakness, optic atrophy and respiratory failure. Riboflavin supplementation is beneficial in short-term reports, but the quantum of benefit in various clinical domains is not well understood. A PubMed search was conducted, which identified 94 genetically confirmed cases of RTD who received riboflavin supplementation and had follow-up assessments. Information on the clinical and functional status before and after riboflavin supplementation was collected and analysed. Seventy-six of the 94 patients (80.9%) showed an overall improvement after riboflavin supplementation, and the remaining (19.1%) were stable, though some patients had deteriorations in individual domains with no reported deaths. The domains that had the highest rates of response to riboflavin supplementation were gross motor function (93.3% improved), bulbar palsy (91.3%) and ataxia (90.0%). Improvements were also seen in limb muscle weakness, audiology, facial nerve palsy and respiratory function. Despite treatment, many patients required assistance to ambulate and had severe or profound hearing loss and some remained gastrostomy or tracheostomy dependent. Riboflavin supplementation is a lifesaving intervention for patients with RTD and results in a profound improvement in several functional domains, with early diagnosis and treatment further improving outcomes. Despite treatment, patients are left with residual disability. There is a need to accurately measure functional outcomes in children with RTD and develop additional disease-modifying therapies.

Intrathecal Baclofen to Improve Functional Status in ALS: A Case Report

Background: Intrathecal pumps are well known to benefit patients with chronic pain as well as spasticity. Intrathecal baclofen (ITB) can offer doses 100-1000 times smaller with similar efficacy, compared to oral baclofen. Only 2 previous reports detailed improvement in functional status after patients with amyotrophic lateral sclerosis (ALS) received ITB. Case Report: Our patient presented with progressive bulbar palsy, further progressing to ALS. His lower extremity spasticity and tremors continued to progress over 3 years despite increased baclofen. At the time of implant, he expressed whole body tremors and spasticity to bilateral lower extremities, complicated by falls. Prior to the trial, the patient ambulated 50 feet. ITB was started at a rate of 100 mcg/day. After the implant, the patient’s ambulation distance increased to 100 feet. Conclusion: The patient and his wife reported resolution of his tremors and improvement in spasticity. This report details the functional improvement obtained from ITB in a patient with ALS. Key words: Amyotrophic lateral sclerosis (ALS), intrathecal, baclofen, functional status, chronic pain, interventional pain

Clinical Analysis of 2 Cases of Late-onset Myasthenia Gravis

Objective: Improve the recognition ability of late-onset myasthenia gravis, reduce misdiagnosis and improve prognosis. Methods: The data of 2 patients with late-onset myasthenia gravis were collected, including basic information, clinical features, auxiliary examinations, treatment and effects. Results:: Both male patients were elderly. The clinical manifestations were bulbar palsy with diplopia or limb weakness. Symptoms were mild in the morning and severe in the evening, and the neostigmine test was positive. According to the criteria, myasthenia gravis was diagnosed, and pyridostigmine treatment was effective. The severity of the condition was different. Tests for myasthenia gravis antibodies, thyroid function, autoimmune antibodies, and tumor markers were also different. Follow-up of treatment effect was required for prognosis. Conclusion: Late-onset myasthenia gravis is easily misdiagnosed. Neurological examination can help to detect skeletal muscle involvement, and medical history can help to detect clinical features. The auxiliary examinations of myasthenia gravis have clinical significance for the diagnosis, treatment and prognosis.

An Analysis of Respiratory Muscle Paralysis of Adult Patients in Guillain-Barré Syndrome: A Retrospective Analysis.

Respiratory muscle paralysis is known as a very common complication of Guillain-Barré syndrome (GBS). However, most research has focused on its later stages rather than its earlier stages, including the prognosis of patients with this condition, or factors that act as early predictors of risk. Therefore, our study aimed to identify early predictors of respiratory muscle paralysis in patients with GBS and determine the short-term prognosis of such patients. We recruited 455 GBS patients (age ≥ 18) who had been hospitalized in the First Affiliated Hospital of Harbin Medical University between 2016 and 2021, retrospectively. We recorded clinical and laboratory data and used linear and logistic regression analysis to investigate the relationship between early clinical, examination results, and subsequent respiratory muscle paralysis. Among the 455 patients, 129 were assigned to a respiratory muscle paralysis group and 326 were assigned to a non-respiratory muscle paralysis group. Compared with the non-affected group, the time from onset to admission was shorter (p = 0.0003), and the Medical Research Council (MRC) score at admission and discharge was smaller in the affected group (p < 0.0001). Compared with the non-affected group, the affected group had higher Hughes and Erasmus GBS Respiratory Insufficiency Score (EGRIS) scores at admission and longer hospital stays (p < 0.0001). Patients in the affected group were more likely to have bulbar palsy and lung infections (p < 0.0001). To conclude, bulbar palsy, a higher EGRIS score and Hughes score at admission, a lower MRC score, and a shorter time between onset and admission, are all predictive risk factors for respiratory muscle paralysis in patients with GBS. An increase in any of these factors increases the risk of muscle paralysis. Patients with respiratory muscle paralysis have a poorer short-term prognosis than those without respiratory muscle paralysis. Therefore, we should attempt to identify patients with one or more of these characteristics in the early stages of admission, provide ventilation management, and administer IMV treatment if necessary.

Pathogenesis, clinical features and treatment of anti‐IgLON5 disease

AbstractAnti‐immunoglobulin‐like cell adhesion molecule 5 (IgLON5) disease is an autoimmune encephalitis that targets the cell adhesion molecule, IgLON5. The disease presents with various clinical features, including sleep disorders, bulbar palsy, movement disorders, cognitive dysfunction and neuromuscular manifestations. Sleep disorders are characterized by parasomnias and sleep‐disordered breathing (stridor and sleep apnea). Bulbar palsy includes dysarthria, dysphagia, vocal cord paralysis and stridor. Movement disorders include a variety of symptoms and signs, such as chorea, dystonia, rigidity, tremor, myoclonus and myorhythmia. Cognitive dysfunction includes executive dysfunction, impairment of attention, and verbal and visual memory dysfunction. Neuromuscular manifestations include fasciculations in the tongue and peripheral muscles, limb weakness, and muscle atrophy. Some patients resemble those with neurodegenerative diseases, such as progressive supranuclear palsy or amyotrophic lateral sclerosis. On video polysomnography, undifferentiated non‐rapid eye movement sleep and poorly structured N2 sleep are characteristic. Brain magnetic resonance imaging and cerebrospinal fluid studies are often normal or non‐specific. Human leukocyte antigen testing shows that HLA‐DRB1*10:01‐DQB1*05:01 is highly associated with the disease. Pathologically, neuronal deposition of both hyperphosphorylated 3‐repeat and 4‐repeat tau isoforms, neuronal loss, and gliosis in the hypothalamus, brainstem tegmentum, and upper cervical cord are observed. Some patients are responsive to immunotherapies, such as steroids, intravenous immunoglobulin, plasma exchange therapy and rituximab. Factors associated with a favorable response to immunotherapies include early initiation of treatment, cerebrospinal fluid inflammation and immunoglobulin G1 (IgG1) predominance of IgLON5 antibody compared with immunoglobulin G4 (IgG4). Anti‐IgLON5 disease should be suspected in patients with atypical movement disorders complicated by sleep disturbances.

Case 319.

A 7-year-old Chinese girl presented to a local hospital with a 5-day history of progressive right-sided hemiplegia, expressive aphasia, mild bulbar palsy, and reduced general responsiveness. At presentation, her Glasgow Coma Scale was 11/15 (E4 V1M6). Notably, she had two strokelike episodes approximately 7 and 3 months prior to the current episode, with headache, reduced movement, and numbness in the left hand. She also had an extensive medical history at a young age, including congenital mydriasis, patent ductus arteriosus with ligation, dysautonomia, low blood pressure, hypotonic bladder requiring intermittent catheterization, poor bowel transit, and gallstones. Her immunization record was up to date, and her development was otherwise unremarkable. Her parents and younger sibling were healthy. Her blood tests revealed a mildly increased venous lactate level at 2.3 mmol/L (normal range, 0.7-2.1 mmol/L), without acidosis. Results of a coagulopathy work-up (clotting profile and protein C, protein S, antithrombin 3, and fibrinogen levels) were normal. MRI (Fig 1) and MR angiography of the brain (Fig 2) were performed at presentation.

Anti-GT1a and anti-GQ1b immunoglobulin G antibody positivity with overlapping Miller Fisher/Guillain-Barré syndromes and prominent headache: a case report.

Guillain-Barré syndrome (GBS) and Miller Fisher syndrome (MFS) are acute immune-mediated peripheral neuropathies. In addition to their classic presentations, a variety of other signs and symptoms have been reported; however, headache appears to be relatively uncommon. We describe a 53-year-old woman who presented with acute bulbar palsy as the first symptom of overlapping MFS/GBS accompanied by severe headache. The first important clinical impairment of the patient was acute bulbar palsy along with prominent headache, without limb weakness. Although her initial diagnosis was acute bulbar palsy plus, she subsequently developed lower limb diffuse weakness, and her final clinical diagnosis was overlapping MFS/GBS. Anti-ganglioside antibodies were positive for anti-GQ1b and anti-GT1a immunoglobulin G. The patient received intravenous immunoglobulin on day 2 of admission. Early identification of these overlapping syndromes is important for the management of patients, to avoid respiratory failure or severe weakness with axonal degeneration. We therefore remind clinicians of the importance of further examination in patients with headache and acute bulbar palsy of unknown origin.

ID: 205468 Intrathecal Baclofen to Improve Functional Status in ALS: A Case Report

MC is a 56-year-old man who presented in 2017 with progressive bulbar palsy, which progressed to amyotrophic lateral sclerosis (ALS). His lower extremity spasticity, tremors, clonus continued to progress over 3 years despite increased baclofen. He experienced significant fatigue secondary to baclofen despite armodafinil.

Guillain–Barre syndrome after myocardial infarction: a case report and literature review

BackgroundGuillain–Barre syndrome after myocardial infarction occurs infrequently, and its occurrence following percutaneous coronary intervention is extremely rare. Due to the high mortality rate of myocardial infarction and the disability of Guillain–Barre syndrome, early identification of Guillain–Barre syndrome after myocardial infarction and early intervention can decrease the mortality rate, lead to early recovery, and provide a better outcome.Case presentationHerein, we reported a rare case of Guillain–Barre syndrome after myocardial infarction treated with percutaneous coronary intervention. The patient was a 75-year-old woman from China who was admitted to hospital due to sudden loss of consciousness. Electrocardiography showed acute myocardial infarction in the right ventricle and inferior and posterior walls. The patient underwent emergency percutaneous intervention of the posterior collateral artery of the right coronary artery. Soon after, her condition worsened resulting in limb weakness and numbness. Unfortunately, she continued to develop respiratory failure, and treated with intravenous immunoglobulin and ventilator-assisted breathing. A physical examination showed hypotonia of all four limbs, complete quadriplegia, bulbar palsy, dysarthria, and tendon areflexia. Serum immunoglobulin (Ig) G anti-ganglioside antibody analysis was positive with anti-GT1a antibodies (+ +), anti-GM1 antibodies ( +), anti-GM2 antibodies ( +), and anti-GM4 antibodies ( +), and he was diagnosed with Guillain–Barre syndrome after myocardial infarction. She was discharged due to poor response to treatment. The patient died two days after being discharged.ConclusionsMyocardial infarction and/or percutaneous coronary intervention may activate immune-mediated response and cause severe complications. Clinician should be alert to Guillain–Barre syndrome after myocardial infarction and/or percutaneous coronary intervention.

Pharyngeal-Cervical-Brachial Variant of Guillain Barre Syndrome

Guillain-Barre Syndrome (GBS) usually present as1 symmetrical ascending muscle weakness associated with areflexia and flaccidity with or without sensory symptoms. However,2 in some patients it may present atypically and one of the rare variant is Pharyngeal-cervical-brachial variant, usually presented as muscle weakness extending from cervical area to the upper extremities often affected with proximal muscle groups. A 20-year-old male presented in ER with complaints of weakness over bilateral upper limb, dysphagia and difficulty in speaking followed by quadriparesis and breathing difficulty. Diagnosis of PCB variant was made by CSF and nerve conduction study and all other possible differentials were excluded.The patient improved by administration of iv immunoglobulin and other supportive measures. Physicians should think about PCB variant of GBS, whenever a patient presenting with symmetrical upper limb weakness and bulbar palsy.