1/56. Acute neuromuscular respiratory failure after ICU discharge. Report of five patients.OBJECTIVE: To describe a syndrome of acute neuromuscular respiratory failure (NM-ARF) caused by ICU-acquired acute myopathy and neuropathy. DESIGN: Case series. SETTING: General Regional University Hospital in Brescia, italy. patients: Five adult patients with NM-ARF after prolonged ICU stay and successful weaning from the ventilator and ICU discharge. INTERVENTIONS: None. MEASUREMENTS: Clinical signs of NM-ARF, electroneurography and electromyography (ENMG) of peripheral nerves and muscles, and functional assessment of respiratory muscles. RESULTS: NM-ARF was diagnosed at the time of (one case), or 1-3 days after, ICU discharge. Limb weakness alarmed the physicians, while the signs of the NM-ARF were initially undetected. In the first observed case the acute respiratory failure was near fatal, and necessitated ICU readmission, while in the other cases 2 weeks of aggressive chest physiotherapy permitted resolution of the respiratory failure. history, clinical course and ENMG indicated the diagnosis of critical illness myopathy and neuropathy (CRIMYNE). Three patients recovered fully, while two had persisting evidence of axonal polyneuropathy several months after the onset. CONCLUSIONS: Critically ill patients with prolonged ICU stay, sepsis and MOF are at great risk of developing CRIMYNE, which in turn may be responsible for NM-ARF. This latter complication may arise after resolution of the respiratory and cardiac dysfunctions and successful weaning from the ventilator. As NM-ARF may cause unplanned ICU readmission or even unexpected death, strict clinical surveillance and monitoring of respiratory muscle function is recommended after discharge to the general ward of patients with proven NM-ARF. Early intensive chest physiotherapy can resolve the condition.- - - - - - - - - - ranking = 1keywords = muscle (Clic here for more details about this article) |
2/56. Reversibility of paraneoplastic bilateral diaphragmatic paralysis after nephrectomy for renal cell carcinoma.Bilateral diaphragmatic paralysis is usually caused by anatomic lesions of both phrenic nerves (e.g., after cardiothoracic surgery), generalized neurologic diseases (e.g., primary motor neuron disease, amyotrophic lateral sclerosis) or is without a known cause (idiopathic). We report a case of a patient with renal cell carcinoma complicated by an isolated bilateral diaphragmatic paralysis without clinical or electromyographic signs of other muscle or nerve involvement. There has been progressive, though till now partial, recovery of his vital capacity rising from 44% to 72% of predicted values, and maximal inspiratory pressures during the two years following the curative resection of his renal cell carcinoma. We believe this is the first report of a paraneoplastic bilateral diaphragmatic paralysis with actual recovery after tumour therapy.- - - - - - - - - - ranking = 0.33333333333333keywords = muscle (Clic here for more details about this article) |
3/56. 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 = 4123.7030874967keywords = muscular atrophy, atrophy, muscle (Clic here for more details about this article) |
4/56. Bilateral phrenic paralysis in a patient with systemic lupus erythematosus.Respiratory manifestations of systemic lupus erythematosus (SLE) are frequent. They include respiratory muscle abnormalities, which have been implicated in the pathogenesis of the "shrinking lung syndrome" (SLS). We report the case of a patient with this syndrome, in whom diaphragmatic paralysis due to demyelinating phrenic lesions was diagnosed at the same time as SLE. follow-up studies showed a favorable clinical and diaphragmatic outcome with corticosteroid therapy, but little change in spirometry. It is concluded that severe diaphragm palsy is possibly due to phrenic nerve lesions in SLE, and that the link between diaphragm dysfunction and the SLS is probably not a straightforward one.- - - - - - - - - - ranking = 0.33333333333333keywords = muscle (Clic here for more details about this article) |
5/56. Congenital hypomyelination neuropathy in a newborn infant: unusual cause of diaphragmatic and vocal cord paralyses.We report a case of congenital hypomyelination neuropathy presenting at birth. The infant had generalized hypotonia and weakness. There was decreased respiratory effort along with a right phrenic nerve and left vocal cord paralyses. tongue fasciculations were present. Deep tendon reflexes were absent in the upper extremities and hypoactive (1 ) in the lower extremities. magnetic resonance imaging of the head revealed no intracranial abnormalities, including normal cerebral myelination. Nerve conduction study showed absence of motor and sensory action potentials in the hands when the nerves in the upper limbs were stimulated. A motor response could be elicited only in the proximal leg muscles. Needle electromyography study was normal in the proximal limb muscles, but showed active denervation in the distal muscles of the arm and leg. These findings were thought to be consistent with a length-dependent sensorimotor peripheral polyneuropathy of axonal type with greater denervation of the distal muscles. A biopsy of the quadriceps muscle showed mild variability in fiber diameter, but no group typing or group atrophy. The muscle fibers showed no intrinsic abnormalities. biopsy of the sural nerve showed scattered axons with very thin myelin sheaths. There was also a nearly complete loss of large diameter myelinated fibers. No onion bulb formations were noted. These findings were thought to be consistent with congenital hypomyelination neuropathy with a component of axonopathy. dna analysis for identification of previously characterized mutations in the genes MPZ, PMP22, and EGR2 was negative. Several attempts at extubation failed and the infant became increasingly ventilator-dependent with increasing episodes of desaturation and hypercapnea. He also developed increasing weakness and decreased movement of all extremities. He underwent surgery at 2 months of age for placement of a gastrostomy tube and a tracheostomy. He was discharged from the hospital on a ventilator at 6 months of age. The infant was 13 months old at the time of submission of this report. Although he appears cognitively normal, he remains profoundly hypotonic and is on a home ventilator. There was no evidence of progressive weakness. Congenital hypomyelination neuropathy is a rare form of neonatal neuropathy that should be considered in the differential diagnosis of a newborn with profound hypotonia and weakness. It appears to be a heterogeneous disorder with some of the cases being caused by specific genetic mutations.- - - - - - - - - - ranking = 5.0760380229675keywords = atrophy, muscle (Clic here for more details about this article) |
6/56. Acute lead poisoning: Five cases resulting from self-injection of lead and opium.Five cases of acute lead poisoning resulted from the self-injection of lead and opium pills which were crushed, heated and suspended in water. Two of the five patients died of illnesses in which hepatic failure and reversible acute tubular necrosis were prominent features. One of these two had a severe neuropathy, with flaccid quadriplegia and respiratory paralysis. The other three patients had relatively minor symptoms but unequivocal biochemical evidence of lead toxicity. autopsy changes included hepatic degeneration with inclusion bodies, regenerating renal tubular epithelium and wasting of skeletal muscle. Hepatic lead content was extremely high in one case. chelation therapy in the other fatal case resulted in a fall in blood lead to within normal limits and a clinical improvement, which was terminated by massive haemorrhage from a ruptured innominate artery.- - - - - - - - - - ranking = 0.33333333333333keywords = muscle (Clic here for more details about this article) |
7/56. Idiopathic bilateral diaphragmatic paralysis.A 41-year-old man complained of subacute onset of dyspnea and pain in the neck and chest. He was diagnosed with bilateral diaphragmatic paralysis, based on clinical inspection of the breathing pattern and transdiaphragmatic pressure recording, and was trained to use a portable bi-level positive airway pressure apparatus (BiPAP). Needle electromyography showed profuse fibrillation potentials and positive waves in the diaphragm, more abundant on the right than left side, and no response to phrenic nerve stimulation. Other muscles were not involved. Follow-up examinations, performed at 9 and 12 months after onset of paralysis, demonstrated a slow but progressive improvement of the patient's respiratory function, together with the appearance of reinnervation potentials in the diaphragm, and polyphasic, long-latency responses to phrenic nerve stimulation. The subacute onset of the paralysis associated with local pain, and its subsequent recovery, suggest bilateral proximal lesions in the phrenic nerves. In the absence of traumatic or metabolic causes, these findings suggest that the phrenic nerve can be a target in idiopathic neuritis.- - - - - - - - - - ranking = 0.33333333333333keywords = muscle (Clic here for more details about this article) |
8/56. A case of frog breathing.Frog breathing (glossopharyngeal breathing) is a useful technique employed to increase ventilation when respiratory muscles are paralysed. It is a technique used by many patients with chronic poliomyelitis, yet many chest physicians and physiotherapists are unfamiliar with this breathing maneuver. Glossopharyngeal breathing coordinates movements of the tongue, cheeks and pharynx to force air from the mouth into the lungs. We report a case of glossopharyngeal breathing, demonstrating a 3 fold increase in vital capacity in a subject with chronic poliomyelitis.- - - - - - - - - - ranking = 0.33333333333333keywords = muscle (Clic here for more details about this article) |
9/56. Bilateral phrenic-nerve paralysis treated by thoracoscopic diaphragmatic plication in a neonate.Traditionally, diaphragmatic plication (DP) is performed via a thoracotomy that includes incision of the lower intercostal muscles, which are involved in respiratory movement. This may adversely affect ventilation by causing deterioration of respiratory function and making ventilation less efficient. These problems do not occur with thoracoscopic DP (TDP), since the lower intercostal muscles are left intact. We describe a full-term newborn infant with bilateral phrenic-nerve paralysis (PNP) who was treated by TDP and conclude that this method may be effective in the treatment of PNP even in small infants.- - - - - - - - - - ranking = 0.66666666666667keywords = muscle (Clic here for more details about this article) |
10/56. respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.Mutations in desmin gene have been identified in patients with cardiac and skeletal myopathy characterized by intracytoplasmic accumulation of desmin-reactive deposits and electron-dense granular aggregates. We characterized two new desminopathy families with unusual features of adult-onset, slowly progressive, diffuse skeletal myopathy and respiratory insufficiency. Progressive reduction of respiratory muscle strength became clinically detectable between the 3rd and the 8th years of illness and led to recurrent chest infections and death in one of the patients. Novel mutations, A357P and L370P, predicted to introduce proline residue into a highly conserved alpha-helical region of desmin, were identified. proline is known to disrupt the alpha-helix. In addition, the A357P mutation distorts a unique stutter sequence that is considered to be critically important for proper filament assembly. Functional assessment in two cell-lines, one of which does and the other of which does not constitutively produce type III intermediate filaments, demonstrated the inability of mutant desmin carrying either the A357P or the L370P mutation to polymerize and form an intracellular filamentous network. The results of this study indicate that respiratory insufficiency is an intrinsic feature of disease associated with specific desmin mutations; in some patients, respiratory weakness may present as a dominant clinical manifestation and a major cause of disability and death.- - - - - - - - - - ranking = 0.33333333333333keywords = muscle (Clic here for more details about this article) |
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