Respiratory function in the muscular dystrophies

The purpose of this investigation was to compare the respiratory function of patients with different clinical types of muscular dystrophy (MD). A total of 190 patients representing facioscapulohumeral MD (n = 20), limb-girdle MD (n = 50), Becker MD (n = 20), Duchenne MD (n = 90), and the “intermediate” type of MD (n = 10) were studied using simple spirometric respiratory function tests. The respiratory modifications observed in the 3 adult forms indicate that pulmonary function was almost normal. Respiratory function in Duchenne muscular dystrophy (DMD) was always characterized by a restrictive syndrome which severely impaired pulmonary function. The vital capacity (VC) underwent ascending, plateau, and descending phases during the course of the disease. The VC at the plateau stage may be used as an estimate of life span. The most interesting finding was the high degree of variability in the restrictive syndrome associated with DMD. In the DMD group 30% presented a severe restrictive respiratory syndrome associated with a life span of less than 20 years (Type 1), 40% had a serious restrictive syndrome and variable mortality (Type 2), and the remaining 30% had a moderate restrictive respiratory syndrome (Type 3).     

Respiratory failure secondary to malignant catatonia and klinefelter pulmonary deficits: successful electroconvulsive therapy

Catatonia is a motor syndrome associated with disorders in behavior. Malignant catatonia (MC) is the form of acute catatonia dominated by fever and autonomic instability that may be fatal if inadequately treated. We present a case of MC complicated by respiratory failure in a patient with previously undiagnosed Klinefelter syndrome. Patients with Klinefelter syndrome have one or more extra X-chromosome(s), and mental illness is a recognized association. The use of electroconvulsive therapy in these patients is well recognized, however, to our knowledge, this report is the first for MC in Klinefelter syndrome. We also describe, for the first time, type II respiratory failure as a secondary phenomenon occurring because of the combination of MC and thoracic abnormalities associated with Klinefelter syndrome. Interestingly, this is only the fourth reported case of respiratory failure due to any cause in MC. The positive outcome in this case confirms the efficacy of electroconvulsive therapy for MC and supports its safety for use in patients with Klinefelter syndrome and in those with secondary respiratory failure.     

Acute respiratory distress syndrome in children with severe motor and intellectual disabilities

We report 13 severely disabled children with acute respiratory distress syndrome, who were treated at the Department of Pediatrics, Niigata City General Hospital between 1995 and 2002. The children ranged in age from 1 year to 16 years. All were non-ambulant. Chronic aspiration and gastro-esophageal reflux were recognized in 12 patients. Patients had the rapid onset of dyspnea refractory to oxygen therapy. Diffuse bilateral lung infiltrates were present on chest X-ray. Predisposing events included sepsis (3 patients), pneumomia (7 patients), pancreatitis (1 patient) and two children with other infections. All required mechanical ventilation for periods of 3-26 days and received oxygen for 5-64 days. Steroid therapy and surfactant therapy were given to eight and three patients, respectively. Only one patient developed an air leak complication. Despite intensive care, three children died, one underwent tracheostomy and nine recovered completely. Acute respiratory distress syndrome is a commonly recognized cause of acute respiratory failure following a variety of insults. It is characterized by the acute onset of dyspnea refractory to oxygen therapy, and diffuse lung infiltrates. Children with severe motor and intellectual disabilities had various complications. In this study, chronic aspiration and gastro-esophageal reflux are considered to be one of predisposing factors triggering acute respiratory distress syndrome in children with severe motor and intellectual disabilities. Although acute respiratory distress syndrome was considered to be a not infrequent occurrence, its mortality rate might be low despite the severity of the disease in children with severe motor and intellectual disabilities. Acute respiratory distress syndrome can be a complication seen in severely disabled children.     

Anti-GAD associated post-infectious cerebellitis after COVID-19 infection

Neurological Sciences - The coronavirus disease 2019 (COVID-19), caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), continues to spread rapidly all over the world....     

Primary respiratory failure as the presenting symptom in Lambert–Eaton myasthenic syndrome

Myasthenia gravis can present with rapid respiratory failure as the first manifestation of disease. In the Lambert–Eaton myasthenic syndrome (LEMS), such a manifestation has rarely been reported. We are reporting a patient who developed respiratory failure as the first manifestation of LEMS without associated carcinoma.     

Respiratory function and sleep in children with myotonic dystrophy type 1

Myotonic dystrophy type 1 (DM1) is a rare neuromuscular disease in children causing sleep and respiratory disorders that are poorly described in the literature compared to adult forms.This retrospective observational study was performed at the Armand Trousseau University Hospital, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France. We retrospectively collected data from lung function tests, nocturnal gas exchange recordings, and polysomnography of 24 children with DM1. 39% of the children with DM1 reported respiratory symptoms indicative of sleep disordered breathing. Three patients (12%) presented with a restrictive respiratory pattern, 10 (42%) with a sleep apnoea syndrome, mainly of obstructive origin (2/10 with severe obstructive sleep apnea syndrome), and 11 (45%) with nocturnal alveolar hypoventilation. Non-invasive ventilation (NIV) was indicated in 9 (37.5%) children, although tolerance was poor. No significant deterioration in respiratory function or nocturnal gas exchange was observed during the NIV-free period.This study provides new and useful insights into DM1 disease evolution in children to better adapt for respiratory follow-up and management. This highlights the need for future research to better understand the origin of respiratory and sleep disorders in patients with DM1.     

Neurodegeneration involving putative respiratory neurons in Perry syndrome

The objective of this study was to assess the potential involvement of ventral medullary neurons implicated in respiratory rhythmogenesis and chemosensitivity in a patient with Perry syndrome (autosomal dominant parkinsonism associated with depression, weight loss and central hypoventilation). Previous neuropathologic reports in Perry syndrome demonstrated neuronal loss in the substantia nigra with no or few Lewy bodies and no tau inclusions. Neurons in the pre-Bötzinger complex (preBötC) of the ventrolateral medulla, identified by their immunoreactivity for neurokinin-1 receptors (NK-1R), play an essential role in respiratory rhythmogenesis and serotonergic neurons in the medullary raphe in respiratory chemosensitivity, but their potential involvement in Perry syndrome has not yet been addressed. We conducted clinical and neuropathologic studies including immunohistochemistry examination in a new autopsied case clinically diagnosed as Perry syndrome. Our patient presented with parkinsonism at age 41. Subsequently, all cardinal features of Perry syndrome developed. He died of respiratory failure and sepsis at age 46. Hematoxylin-eosin staining revealed no significant pathology in the medulla. However, NK-1R, tyrosine hydroxylase (TH) and tryptophan hydroxylase (TrOH) immunoreactive neurons were significantly reduced in the ventrolateral medulla compared to controls. There was also loss of serotonergic neurons in the medullary raphe and ventral medullary surface. Severe neuronal loss in the substantia nigra, without alpha-synuclein or tau pathology but with loss of NK-1R and TH immunoreactive neurons in the ventrolateral medulla, and loss of serotonergic neurons in the medullary raphe and ventrolateral medulla may be a pathologic hallmark of Perry syndrome.     

COVID-19 mRNA vaccination leading to CNS inflammation: a case series

Journal of Neurology - The availability of vaccines against the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), provides hope towards mitigation of the coronavirus disease 2019...     

Ageusia and anosmia,a common sign of COVID-19? A case series from four countries

Journal of NeuroVirology - Over the course of the pandemic due to the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), multiple new clinical manifestations, as the consequence of the...     

A comprehensive review of COVID-19 biology,diagnostics, therapeutics,and disease impacting the central nervous system

Journal of NeuroVirology - The ongoing COVID-19 pandemic, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), is a highly transmissible disease. SARS-CoV-2 is estimated to have...     

急性感染后多颅神经炎(附2例报告)

Acute autoimmune polyneuritis may occur after non-specific infections (upper respiratory tract infection or diar-rhea), which may involve spinal and cranial nerves, and nerveroots symmetrically, the most common manifestation beingGuillain- Barre syndrome (GBS).     

Utilization and Outcomes of Acute Revascularization Treatments in Ischemic Stroke Patients with SARS-CoV-2 Infection

ObjectivesAcute ischemic stroke patients with severe acute respiratory syndrome coronavirus maybe candidates for acute revascularization treatments (intravenous thrombolysis and/or mechanical thrombectomy).Materials and MethodsWe analyzed the data from 62 healthcare facilities to determine the odds of receiving acute revascularization treatments in severe acute respiratory syndrome coronavirus infected patients and determined the odds of composite of death and non-routine discharge with severe acute respiratory syndrome coronavirus infected and non-infected patients undergoing acute revascularization treatments after adjusting for potential confounders.ResultsAcute ischemic stroke patients with severe acute respiratory syndrome coronavirus infection were significantly less likely to receive acute revascularization treatments (odds ratio 0.6, 95% confidence interval 0.5–0.8, p = 0.0001). Among ischemic stroke patients who received acute revascularization treatments, severe acute respiratory syndrome coronavirus infection was associated with increased odds of death or non-routine discharge (odds ratio 3.0, 95% confidence interval 1.8–5.1). The higher odds death or non-routine discharge (odds ratio 2.1, 95% confidence interval 1.9–2.3) with severe acute respiratory syndrome coronavirus infection were observed in all ischemic stroke patients without any modifying effect of acute revascularization treatments (interaction term for death (p = 0.9) or death or non-routine discharge (p = 0.2).ConclusionsPatients with acute ischemic stroke with severe acute respiratory syndrome coronavirus infection were significantly less likely to receive acute revascularization treatments. Severe acute respiratory syndrome coronavirus infection was associated with a significantly higher rate of death or non-routine discharge among acute ischemic stroke patients receiving revascularization treatments.     

Algorithmic approach for methyl-CpG binding protein 2 (MECP2) gene testing in patients with neurodevelopmental disabilities

Methyl-CpG binding protein 2 gene (MECP2) testing is indicated for patients with numerous clinical presentations, including Rett syndrome (classic and atypical), unexplained neonatal encephalopathy, Angelman syndrome, nonspecific mental retardation, autism (females), and an X-linked family history of developmental delay. Because of this complexity, a gender-specific approach for comprehensive MECP2 gene testing is described. Briefly, sequencing of exons 1 to 4 of MECP2 is recommended for patients with a Rett syndrome phenotype, unexplained neonatal encephalopathy, an Angelman syndrome phenotype (with negative 15q11-13 analysis), nonspecific mental retardation, or autism (females). Additional testing for large-scale MECP2 deletions is recommended for patients with Rett syndrome or Angelman syndrome phenotypes (with negative 15q11-13 analysis) following negative sequencing. Alternatively, testing for large-scale MECP2 duplications is recommended for males presenting with mental retardation, an X-linked family history of developmental delay, and a significant proportion of previously described clinical features (particularly a history of recurrent respiratory infections).     

A case of combined paraneoplastic neurological syndrome, with Lambert-Eaton myasthenic syndrome manifesting as severe respiratory failure, and anti-Hu syndrome]

A 63-year-old man complained of rapidly progressive respiratory failure, requiring a control respiration. He subsequently, presented with muscle weakness involving the neck and all the extremities, superimposed by painful paresthesia. He was proven to carry small-cell lung cancer (SCLC). Neurophysiological examinations revealed the waxing phenomenon at 30 Hz repetitive motor nerve stimulation. Positive serum autoantibodies were detected to voltage-gated calcium channel and Hu proteins. He received diagnosis of combined Lambert-Eaton myasthenic syndrome (LEMS) and anti-Hu syndrome. The initial chemotherapy for SCC alleviated his respiratory and neurological symptoms. But he developed multiple cranial palsies and fatal respiratory distress two months later. There is only a few reports about LEMS complicated by respiratory failure as an initial presentation. Various clinical manifestations including respiratory failure at the onset could be best explained by the combination of LEMS and anti-Hu syndrome in this case.     

Acute respiratory failure precipitated by general anesthesia in Leigh's syndrome

Three patients with Leigh's syndrome developed respiratory failure following general anesthesia. Although all three had respiratory symptoms prior to the anesthetic, the diagnosis was not suspected at the time of the procedure in two of the children. We reviewed the case notes of 16 other patients with Leigh's syndrome. Eight had received anesthetic agents without incident. Although the majority subsequently developed respiratory abnormalities and died with respiratory failure, this problem was not evident at the time of anesthesia. In the presence of respiratory abnormalities, general anesthesia carries significant risks in Leigh's syndrome.     

Two Medullary Hemorrhage Cases Complicated by Respiratory Distress in the Early Phase

Medullary hemorrhage is quite rare among brain stem hemorrhage cases, thus the clinical course remains unclear. In the medulla oblongata, respiratory centers are located and previous reports indicate that medullary lesions have possible relationship with acute respiratory distress syndrome. This kind of respiratory failure is commonly caused by neurogenic pulmonary edema (NPE), which is defined as noncardiac noninfectious acute respiratory distress syndrome with changes in intracranial condition including cerebrovascular events. However, to date, very few reports have described cases with medullary hemorrhage accompanied by NPE. We experienced 2 patients with medullary hemorrhages. A 65-year-old man presented with sudden onset of headache, whose head computed tomography showed right medullary hemorrhage. Another 76-year-old woman was transferred because of sudden limb weakness and diagnosed with left medullary hemorrhage. Digital subtraction angiography showed the presence of arteriovenous fistula in the medulla oblongata and drainer veins in the second case. Both cases were complicated by acute pulmonary edema in the early phase, suggesting the possible association of the medullary hemorrhage with NPE.     

Neurological Manifestations of COVID-19: A systematic review and current update

The novel coronavirus, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), was first identified in December of 2019 in the city of Wuhan, China. Since the outbreak, various reports detail its symptoms and outcomes, primarily focusing on respiratory complications. However, reports are emerging of the virus’ effects systemically, including that of the nervous system. A review of all current published literature was conducted, and we report that headache and anosmia were common neurological manifestations of SARS-CoV-2. Less common symptoms include seizure, stroke and isolated cases of Guillain-Barre syndrome. Further research is now warranted to precisely determine the relationship between those patients developing neurological sequelae, their clinical state and any subsequent morbidity and mortality.     

Severe Guillain-Barré syndrome associated with chromosome 17p11.2-12 duplication

We report a patient with Guillain-Barré syndrome (GBS), characterized by severe tetraparesis, bulbar syndrome, and ophthalmoparesis. The nadir was reached within 1 day, followed by respiratory insufficiency requiring mechanical ventilation. Molecular analysis revealed a duplication at chromosome 17p11.2-12, which is a known genetic cause of Charcot-Marie-Tooth disease type 1A (CMT1A). We suggest that this genotype may comprise a previously unrecognized genetic risk factor for GBS.     

Respiratory disturbances in rett syndrome: don't forget to evaluate upper airway obstruction

Rett syndrome is characterized by loss of motor and social functions, development of stereotypic hand movements, seizures, and breathing disturbances. This study evaluates the presence of overnight respiratory disturbances. Polysomnography in combination with a questionnaire (the Sleep Disturbance Scale for Children) was performed in 12 Dutch patients with Rett. Respiratory disturbances were present in all, clinically relevant in 10 (apnea hypopnea per hour 1.0-14.5). In 8 children, central apneas were present during the day often with obstructive apneas at night. In 6, obstructive sleep apnea syndrome was diagnosed, in 3 severe, with frequent oxygen desaturations. Significant respiratory complaints were present in 3 patients, all had obstructive sleep apnea syndrome. Of the 12 patients with Rett, 8 (67%) snored, and in 5 obstructive sleep apnea syndrome was present. In children, hypertrophied tonsils and adenoids are a common cause of obstructive sleep apnea syndrome, which may benefit from therapeutic intervention. We recommend performing polysomnography in patients with Rett syndrome and respiratory complaints.