1/31. Diaphragmatic spinal muscular atrophy with bulbar weakness.We present the clinical and histopathological features of a child affected by diaphragmatic spinal muscular atrophy. The child was born with mild distal arthrogryposis, mild hypotonia and developed marked diaphragmatic and bulbar muscle weakness in the first week of life. Electrophysiological and pathological investigations performed at presentation were not conclusive, while the investigations performed at 3 months showed a clear neurogenic picture. Genetic studies excluded involvement of the SMN gene, or of other genes located on chromosome 5q, confirming that this syndrome represents a different entity from typical proximal spinal muscular atrophy.- - - - - - - - - - ranking = 1keywords = spinal (Clic here for more details about this article) |
2/31. A case of extensive block with the combined spinal-epidural technique during labour.The increasing use of combined spinal-epidural analgesia in obstetric practice has arisen from a desire to achieve a rapid onset of analgesia while reducing the intensity of the motor block. Although the procedure has an excellent safety profile, as with any technique there are potential problems. Difficulty in assessing the position of the epidural catheter after establishment of the spinal blockade may lead to an abnormally extensive block when a full-strength local anaesthetic solution is used. We present a case in which the use of 0.5% bupivacaine to top-up the epidural component of a combined spinal-epidural resulted in a total spinal block. The possible causes of this complication are discussed.- - - - - - - - - - ranking = 1.3333333333333keywords = spinal (Clic here for more details about this article) |
3/31. Phrenic paresis--a possible additional spinal cord dysfunction induced by neck manipulation in cervical spondylotic myelopathy (CSM): a report of two cases with anatomical and clinical considerations.The clinical records of two male subjects with severe cervical spondylotic myelopathy (CSM) who developed respiratory insufficiency after the cervical manipulation involved in preoperative anesthetic intubation were examined. Their cervical imaging was analyzed with respect to the known anatomic relationships of the spinal phrenic nerve nuclei to the spondylotic compressive lesions in an attempt to provide the anatomic and pathologic rationales that may explain this phrenic paresis as a possible traumatic complication of severe CSM. Perusal of extant literature revealed extensive descriptions of CSM symptoms, but none had previously reported an associated neuromuscular weakness of the diaphragm. magnetic resonance imaging analyses indicated that the existing degree of upper cervical cord compression, when reinforced by the additional posterior and anterior pressures consequent to cervical spinal extension and flexion, could readily account for the functional impairment of phrenic nerve neuron cells and/or their efferent fibers. Thus, the anatomic relations of the phrenic nerve nuclear columns and their efferent tracts predispose them to interference by compressive lesions found in CSM, and undue manipulation of the cervical spine when advanced stenosis is known to be present should be recognized as a possible cause of cervical spondylotic myelopathic-phrenic paresis.- - - - - - - - - - ranking = 1keywords = spinal (Clic here for more details about this article) |
4/31. Accidental total spinal block: a complication of an epidural test dose.A case is presented of a 36-yr-old parturient who developed a total spinal block after an epidural test dose. After placement of an epidural catheter and confirming negative aspiration for blood or CSF, 3 ml lidocaine 1.5% (45 mg), with 1:200,000 epinephrine (15 micrograms) was injected via the catheter over 30 sec. Within two minutes the patient developed hypotension and extensive sensory and motor block including respiratory paralysis and aphonia. She remained fully conscious and alert and spontaneous respiration recommenced in five minutes. A live healthy infant was delivered by emergency Caesarean section shortly afterwards under general anaesthesia and the mother recovered completely without any untoward sequelae.- - - - - - - - - - ranking = 0.83333333333333keywords = spinal (Clic here for more details about this article) |
5/31. Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1.A group of 13 patients with early onset diaphragmatic palsy in association with a progressive neuropathy is presented. All eight of those tested were found to have mutations in the same gene encoding the immunoglobulin mu-binding protein 2 (IGHMBP2) in patients with spinal muscular atrophy (SMA) with respiratory distress type 1. Six out of these eight patients had either homozygous or compound heterozygous mutations, and two had only a single heterozygous mutation. Detailed analysis of the clinical picture and the neurophysiological and histopathological findings indicated that these patients shared similar characteristics, which were further developed as a set of diagnostic criteria. Some of the most striking of these were early onset of respiratory compromise, a markedly low birth weight, very slow motor nerve conduction velocities and a general decrease in the size of myelinated fibres on sural nerve biopsy. Extensive histological examination of the spinal cord in one patient failed to find any evidence of an SMA. Four out of the five not tested genetically were positive for all diagnostic criteria. None of the cases of early onset neuropathies or spinal muscular atrophies with early respiratory failure reviewed in the literature shares the exact characteristics, but many do have very close similarities. Their classification varies, but the discovery of mutations in IGHMBP2 in cases that are variously classified as SMA plus or severe infantile neuropathy with respiratory distress points to a need for the search for this genetic defect to be widened to include both groups. The fact that we identified other, similar cases of neuropathy and early respiratory failure with and without IGHMBP2 mutations suggests genetic as well as clinical heterogeneity in these infants. It is possible that infants that do not have mutations in the IGHMBP2 gene will be found to have mutations in a similar functioning gene.- - - - - - - - - - ranking = 0.5keywords = spinal (Clic here for more details about this article) |
6/31. Functional electrical stimulation (FES) for spinal cord injury.Restoration of respiratory motion by stimulation of the phrenic nerve was investigated. Respiratory motion was restored successfully by introducing a breathing pacemaker to a patient with respiratory disturbance due to upper cervical spinal cord injury. Breathing pacemakers are considered to be more similar to physiological conditions compared to mechanical ventilators. Although the system is very expensive, its cost effectiveness may be excellent, provided that it can be used for long hours each day over an extended period. The system is effective in improving patient QOL because it dramatically increases patient mobility. From these findings, it is concluded that breathing pacemakers should be used more frequently in japan, and that various forms of support are necessary to cope with economic and other concerns.- - - - - - - - - - ranking = 0.83333333333333keywords = spinal (Clic here for more details about this article) |
7/31. Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).We describe 6 unrelated patients affected by infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) with prolonged survival upon mechanical ventilation (4.5-11 years), which has not been reported before. Biallelic mutations in the IGHMBP2 gene proved the diagnosis of SMARD1 in all patients. disease onset was in the first 2 months in the described patients, starting with generalised hypotonia, failure to thrive, and early breathing difficulties. Diaphragmatic palsy was diagnosed and permanent ventilation was initiated 2-8 months after onset. Within months a more distal muscular atrophy became evident associated with joint contractures (talipes), hand drops, and fatty finger pads. Motor development remained minimal, loss of function was observed within the first year after which no further progression was recorded. Voiding dysfunction with reflux nephropathy was observed in 3 patients and has not been reported before. Further evidence of autonomic nerve dysfunction resulting in cardiac arrhythmia, hypertension, and excessive sweating was given in 2 patients. Investigative results were largely compatible with those obtained in classic SMA. However, neurogenic atrophy muscle was more pronounced in distal muscles, if examined, and there was evidence of peripheral nerve involvement at least in some patients.- - - - - - - - - - ranking = 0.83333333333333keywords = spinal (Clic here for more details about this article) |
8/31. Respiratory failure in a patient with antecedent poliomyelitis: amyotrophic lateral sclerosis or post-polio syndrome?We report a 69-year-old man who developed paralytic poliomyelitis in childhood and then decades later suffered from fatal respiratory failure. Six months before this event, he had progressive weight loss and shortness of breath. He had severe muscular atrophy of the entire right leg as a sequela of the paralytic poliomyelitis. He showed mild weakness of the facial muscle and tongue, dysarthria, and severe muscle atrophy from the neck to proximal upper extremities and trunk, but no obvious pyramidal signs. Electromyogram revealed neurogenic changes in the right leg, and in the paraspinal, sternocleidomastoid, and lingual muscles. There was a slight increase in central motor conduction time from the motor cortex to the lumbar anterior horn. Pulmonary function showed restrictive ventilation dysfunction, which was the eventual cause of death. Some neuropathological features were suggestive of amyotrophic lateral sclerosis (ALS), namely Bunina bodies. In patients with a history of paralytic poliomyelitis who present after a long stable period with advanced fatal respiratory failure, one may consider not only respiratory impairment from post-polio syndrome but also the onset of ALS.- - - - - - - - - - ranking = 0.16666666666667keywords = spinal (Clic here for more details about this article) |
9/31. Devic disease with brainstem lesions.We describe a patient who suffered from an unusually severe form of neuromyelitis optica with a hyperacute time-course evolution requiring mechanical ventilation within 3 days. The patient died after 72 days and autopsy showed major spinal cord, optic nerve, and brainstem necrosis, and multifocal necrotic lesions on the cerebellum and cerebral white matter.- - - - - - - - - - ranking = 0.16666666666667keywords = spinal (Clic here for more details about this article) |
10/31. Inspiratory muscle pacing in spinal cord injury: case report and clinical commentary.BACKGROUND/OBJECTIVE: A significant fraction of patients with cervical spinal cord injury suffer from respiratory muscle paralysis and dependence on chronic mechanical ventilation. In selected patients, diaphragm pacing (DP) through electrical stimulation of the phrenic nerves provides an alternative to mechanical ventilation with significant advantages in life quality. methods: A case report of an individual who successfully underwent DP using intramuscular diaphragm electrodes. A brief review of the state of the art of DP including the clinical benefits of DP, patient selection and evaluation, description of equipment, methods of transition from mechanical ventilation to DP, potential complications and side effects, long-term outcome, and potential future developments in this field is included. RESULTS: Several available DP systems are available, including conventional ones in which electrodes are positioned directly on the phrenic nerves through thoracotomy and less invasive systems in which electrodes are placed within the diaphragm through laparoscopy. For patients with only unilateral phrenic nerve function, a combined intercostal and unilateral diaphragm pacing system is under development. CONCLUSIONS: In patients with ventilator-dependent tetraplegia, there are alternative methods of ventilatory support, which offer substantial benefits compared to mechanical ventilation.- - - - - - - - - - ranking = 0.83333333333333keywords = spinal (Clic here for more details about this article) |
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