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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two siblings and a third child exhibited a syndrome of progressive muscular weakness and wasting, closely resembling Werdnig-Hoffmann's disease. Autopsy of one of the siblings and the third child showed nearly total absence of myelin sheaths in the cranial and spinal nerve roots, relative preservation of axons, and normal neurons in the motor cranial nerve nuclei and anterior spinal gray matter. The mother of the siblings had bilateral pes cavus, and the father of the third child had a sensory-motor polyneuropathy dating to childhood, associated with pes cavus and scoliosis. The disorder in these children and in a few similar cases in the literature shares some features of Charcot-Marie-Tooth disease and the hypertrophic neuropathy of Dejerine-Sottas, but it is difficult to classify as either of these familial neuropathies as presently defined. Elevation of cerebrospinal fluid protein is a useful finding in distinguishing such children from patients with Werdnig-Hoffmann's disease.
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PMID:Chronic polyradiculoneuropathy of infancy. A report of three cases with familial incidence. 94

Thirty-four nonambulatory patients with progressive neuromuscular spinal deformity were surgically managed using a 1/4" U-shaped double rod construct with segmental instrumentation from T2 to the pelvis accompanied by posterior spinal fusion. Diagnoses included 17 patients with cerebral palsy, six with spinal bifida, and 11 with other diseases (spinal muscular atrophy, Friedreich's ataxia, polyneuropathy, nemaline myopathy, and polio). Twenty-three patients had single uncompensated thoracolumbar curves, and 11 had a double curve pattern. The mean preoperative major curve was 66 degrees (range, 22-132 degrees), the secondary curve 58 degrees (range, 23-84 degrees). No postoperative spinal support was used. Mean curve correction was 36 degrees or 54.6%. There were four major complications, including two implant failures requiring revision and two patients sustaining excessive intraoperative blood loss necessitating completion of the procedure in a second stage. There were two neurologic complications including one case of postoperative seizures and an L4 monoradicular neuropathy in a spina bifida patient. Four patients had temporary postoperative ileus, one gastroesophageal reflex, and four had urinary tract infections. There were no significant postoperative pulmonary complications. Excluding the patients with rod failure, mean loss of correction at mean follow-up of 21.3 months was 6.5%. The stability and curve correction obtained using this system supports its continued use in patients with progressive neuromuscular scoliosis.
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PMID:Unit rod segmental spinal instrumentation in the management of patients with progressive neuromuscular spinal deformity. 261 59

Measurements of nerve conduction velocity (NCV) in the peroneal and median nerves have been performed in 47 patients with adolescent idiopathic scoliosis (AIS). The results did not reveal any pathology neither asymmetries correlated to convexity of scoliosis. Patients requiring treatment showed significantly lower sensory nerve conduction velocity of median nerve than those under observation. All values, however, were within normal limits. The findings gave no support to any theory that polyneuritis or polyneuropathy is involved in AIS.
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PMID:Nerve conduction velocity in patients with adolescent idiopathic scoliosis. 738 62

The proband, a French-Canadian white boy, presented with congenital sensory polyneuropathy, moderate to severe sensorineural hearing loss, infantile cataracts, nystagmus, esotropia, unusual facies, hypotonia, bilateral congenital hip dysplasia, delayed ossification of the femoral heads, scoliosis, short stature secondary to growth hormone deficiency, and developmental delay. His parents are consanguineous. His maternal first cousin, a 16-year-old girl, has congenital sensory polyneuropathy, infantile cataracts, unusual facies, scoliosis, short stature secondary to growth hormone deficiency, late-childhood-onset arthritis, and hypoglycemia. Reportedly, she has no hearing difficulties and has normal intelligence. Her parents are third cousins. These children appear to have a distinct variant of hereditary sensory and autonomic neuropathy with infantile cataracts, unusual facies, skeletal dysplasia, short stature secondary to growth hormone deficiency, and other features, with probable autosomal recessive inheritance.
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PMID:Unique hereditary sensory and autonomic neuropathy with growth hormone deficiency. 840 71

The clinical and neurophysiologic findings of two children presenting with focal weakness and atrophy in unusual nerve distributions and no apparent antecedent injuries are reported. Patient 1 presented with a droopy left shoulder that was initially attributed to scoliosis. Patient 2 presented with right biceps brachii atrophy that was first brought to his parent's attention during a routine physical examination. In addition to documenting focal spinal accessory and musculocutaneous mononeuropathies as the cause of weakness in Patients 1 and 2, respectively, nerve conduction studies also revealed evidence of superimposed diffuse demyelinating polyneuropathy in both children. The latter findings suggested the diagnosis of hereditary neuropathy with liability to pressure palsies and led to definitive DNA diagnoses.
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PMID:Hereditary neuropathy with liability to pressure palsies in children. 1059 73

Sporadic cases of hereditary neuropathies are not uncommon. The most frequent clinical pictures are purely or predominantly motor neuropathies. A hereditary neuropathy of Charcot-Marie-Tooth should be suspected in the following situations: presence of scoliosis and pes cavus, distal weakness with forearm and leg distal muscle atrophy, discrepancy between relatively mild motor deficit and severe atrophy or markedly reduced spatial recruitment on needle EMG examination, severely altered sensory nerve action potentials with subtle sensory symptoms and, in the demyelinating type, homogenous slowing of nerve conduction in distal and proximal segments (normal terminal latency index), and between nerves of a same region or between axons of the same nerve (absence of temporal dispersion). Amyloid neuropathy should be considered in case of axonal sensori-motor polyneuropathy of subacute course, with autonomic dysfunction, plantar ulcers and/or subclinical carpal tunnel syndrome. Hereditary neuropathy with liability to pressure palsies usually gives a picture of multifocal neuropathy with nerve conduction slowing at usual compression sites. Finally, purely sensory hereditary neuropathies are rare and seldom cause diagnostic problems.
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PMID:[How to clinically and electrophysiologically diagnose hereditary polyneuropathies without a family history?]. 1524 66

Charcot-Marie-Tooth disease is a rare hereditary motor and sensory demyelinating polyneuropathy with potentially severe and debilitating peripheral symptoms. Respiratory muscles and vertebral anatomy can be affected, both of which may have significant impact on any planned or unplanned anaesthetic intervention during labour. We describe two cases at opposite ends of a wide spectrum of disease severity. The first case illustrates an approach to the management of a mildly affected patient who was permitted to labour normally, but nevertheless needed a detailed antenatal plan in order to allay her anxiety and prepare for potentially complicated labour analgesia and operative delivery. Spontaneous delivery of a healthy infant did not require anaesthetic intervention during labour. The second woman had severe scoliosis and marked respiratory impairment and required non-invasive ventilatory support for one week before scheduled caesarean section. A single-shot spinal anaesthetic was used as a spinal catheter could not be sited. This produced a high block for which a brief period of respiratory assistance was required. Perioperative management and subsequent high dependency care are discussed.
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PMID:Charcot-Marie-Tooth disease: peripartum management of two contrasting clinical cases. 1727 78

We report on a 20-year-old male with severe Charcot-Marie-Tooth (CMT) disease and a de novo deletion (c.281delG, p.G94AfsX17) on the paternal PMP22 allele harboring c.353C>T (p.T118M). RNA-based sequence analysis confirmed the absence of nonsense-mediated decay and the presence of the mutant transcripts in Epstein-Barr virus-transformed lymphoblastoid cells of our patient. His clinical findings included early onset of polyneuropathy, loss of muscle mass with distal pareses, hammer toes, and progressive scoliosis. There was no neuropsychological alteration. Our results suggest that the deletion c.281delG alone is responsible for the severe CMT phenotype. To the best of our knowledge, this is the second report on a proven paternal origin of a de novo single-base mutation in the PMP22 gene.
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PMID:Severe phenotype with cis-acting heterozygous PMP22 mutations. 1906 30

A 17-year-old boy, with acute myelomonocytic leukemia and inversion 16(p13q22) developed polyneuropathy and isolated central nervous system relapse. Scoliosis and high-arched feet suggested a diagnosis of Charcot Marie Tooth (CMT) syndrome and genetic testing confirmed duplication at the PMP22 locus at chromosome 17p11.12. No mutation was found in another CMT gene, the CMT C1 LITAF locus at 16p13.2, to suggest that this association is anything more than chance. Titres to VGKC, a paraneoplastic autoantibody, were elevated, suggesting an additional mechanism for the polyneuropathy. This case extends the clinical spectrum of cancer with CMT, and of paraneoplastic disorders.
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PMID:Isolated central nervous system relapse in an adolescent with acute myelomonocytic leukemia, Charcot Marie Tooth syndrome, and paraneoplastic autoantibody. 2072 50

An 11-year-old boy presented with progressive proximal muscle weakness and areflexia. He also had scoliosis with right convexity in the thoracic spine. Nerve conduction studies showed demyelination with conduction blocks. The level of protein in the cerebrospinal fluid was elevated. Magnetic resonance imaging of the lumbosacral spine showed enhancement and hypertrophy of the nerve roots. The patient responded well to steroids. The association of acquired scoliosis with chronic inflammatory demyelinating polyneuropathy has not been reported before.
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PMID:Childhood chronic inflammatory demyelinating polyneuropathy associated with acquired scoliosis: a case report. 2215 81


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