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

Three cases of tethered cord syndrome are presented with reference of reported literatures. This syndrome is usually associated with spina bifida occulta and cutaneous manifestation such as subcutaneous tumor, skin dimple, hairy patch, and neavus. Presented symptoms are various progressive neurological deficits involving weakness and/or sensory disturbance of lower limbs, bowel and/or bladder dysfunction, leg and/or low back pain, and orthopedic pathological conditions such as scoliosis and/or foot deformities. Properly performed myelography is the only method of preoperative confirmation of this syndrome. As the surgical release of the tethered spinal cord is effective for these various symptoms except for foot deformity, early investigation and early surgery are recommended.
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PMID:[Tethered cord syndrome--our three cases and the review of the literature (author's transl)]. 66 74

The clinical presentation, radiological features, and results of surgical treatment were analyzed in 17 cases of hydrosyringomyelia associated with a Chiari malformation, in children and adolescents younger than 20 years of age. The initial symptoms were a skeletal abnormality (71%), such as scoliosis (11 patients) or pes cavus (1 patient), pain or numbness (24%), and motor weakness (6%). Frequently seen signs on admission were sensory deficit (100%), scoliosis (85%), muscle weakness (64%), muscle atrophy (35%), and lower cranial nerve palsy (35%). The characteristic neurological findings were unilateral sensory and motor deficits (65%) with decreased or absent deep tendon reflexes on the same side. The localization of the syrinx on the axial section varied according to the level, even in the same patient. In 11 patients with unilateral sensory disturbances or unilateral sensory and motor deficits, the syrinx was located in the region corresponding to the posterolateral portion on the same side as that of sensory disturbance at the cervical or thoracic level. On the other hand, in 6 patients with bilateral sensory and motor deficits, the syrinx was located in the central portion and extended into the posterolateral portion of the more affected side. A syringosubarachnoid shunt was placed in 16 patients, foramen magnum decompression without closure of the obex was performed in 1 patient, ventriculoperitoneal shunt in 1 patient, terminal syringostomy in 1 patient, and foramen magnum decompression with terminal syringostomy in 1 patient. In 15 of 17 patients (88%), the neurological symptoms improved after an average follow-up of 4 years and 1 month. We think that as a surgical treatment, placement of a syringosubarachnoid shunt is effective.
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PMID:Hydrosyringomyelia associated with a Chiari I malformation in children and adolescents. 233 80

The clinical presentation and radiological features were analyzed in 30 cases of syringomyelia associated with Chiari malformation. None of the patients had spinal dysraphism. The age on admission ranged from 6 to 59 years with a mean of 27 years. Syringomyelia was diagnosed by CT myelography and or MRI from 1982 to 1988. The initial symptoms were skeletal abnormality (43%) such as scoliosis (12 cases) or pes cavus (one case), unilateral pain or numbness (40%) and unilateral motor weakness (17%). Frequently seen signs on admission were sensory deficit (100%), scoliosis (57%), muscle weakness (57%), muscle atrophy (37%) and lower cranial nerve palsy (40%). The neurological findings were asymmetrical in all patients. The characteristic neurological findings in the cases presenting under 20 years of age were unilateral sensory and motor deficits (61%) with decreased or absent deep tendon reflex on the same side. The localization of the syrinx in axial section varied according to the level even in the same case. In 15 cases with unilateral sensory disturbance or unilateral sensory and motor deficit, the syrinx was located in the region corresponding to the posterolateral portion on the same side as that of sensory disturbance in the cervical or thoracic level. On the other hand, in 15 cases with bilateral sensory and motor deficit, the syrinx was located in the central portion and extended into the posterolateral portion of the more affected side.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Clinical and neuroradiological features of syringomyelia associated with Chiari malformation]. 233 91

The clinical features of 31 cases of syringomyelic syndrome, confirmed by metrizamide CT myelography (CTM) or magnetic resonance imaging (MRI), were analysed. Bilateral suspended sensory disturbance, previously regarded as a characteristic feature, was encountered in only 2 cases (6.5%). Thirteen patients (41.9%) showed no motor deficits of the upper limbs and 7 patients (22.6%) did not have weakness or atrophy in any of the four extremities. Cervical segmental signs were absent in 7 cases (22.6%) and in 2 (6.5%) signs were only present in the lower limbs. Scoliosis and foot deformity, such as pes cavus or equinovarus, were seen in 17 (54.8%) and 5 cases (16.1%) respectively. These skeletal abnormalities were initial symptoms in some childhood cases. In syringomyelic syndrome, clinical features are variable with many atypical clinical manifestations, apart from the previously recognized characteristic clinical features.
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PMID:Syringomyelic syndrome: clinical features in 31 cases confirmed by CT myelography or magnetic resonance imaging. 343 Jan 80

One hundred consecutive patients with spinal deformity due to various diagnoses were treated by posterior spinal arthrodesis with instrumentation and multiple sublaminar wires. Both the Harrington and Luque rodding systems were used. A total of 1128 wire loops were passed. No patient developed paraparesis or paraplegia, but three had transient sensory disturbance. There were no cases of broken rods or wires. Forty-five of the patients had no postoperative support. This worked well for neuromuscular scolioses, but for idiopathic scoliosis there was a disturbing loss of correction in many cases. Fusion to the sacrum was best accomplished with the "Galveston" technique, other methods having a high rate of pseudarthrosis. The main benefits appeared to be the ability to stabilize neuromuscular patients without the use of external immbolization, and the correction of thoracic lordosis.
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PMID:Spinal arthrodesis for spinal deformity using posterior instrumentation and sublaminar wiring. A preliminary report of 100 consecutive cases. 409 25

We describe two brothers with early onset cerebellar ataxia associated with hypoalbuminemia (EOCAH). Choreo-athetoid movements preceded the cerebellar ataxia, and serum pseudocholinesterase elevation preceded the hypoalbuminemia. The parents are first cousins. Patient 1, the 22-year-old elder brother, developed choreoathetoid movements of the neck and extremities at the age of eighteen months. He later developed slowly progressive cerebellar ataxia with decreased tendon reflexes. The choreoathetoid movements ceased at about 16 years of age. A recent examination revealed cerebellar ataxia, action myoclonus of the neck and upper limbs, diminished tendon reflexes, mild sensory disturbance in the lower extremities, and very slight amyotrophy of the feet. Patient 2, the 18-year-old younger brother, developed choreo-athetoid movements at the age of 6 years, followed by slowly progressive cerebellar ataxia with disminished tendon reflexes. No scoliosis, ECG abnormalities, or edema was detected. Serum biochemistry studies revealed elevated pseudocholinesterase (6,226 to 2,390 IU) in the patient's early teens. Serum albumin levels tended to be low (3.7 to 4.1 g/dl). Serum triglyceride and beta-lipoprotein levels were elevated in the patients' late teens. Genetic studies showed slight linkage of D9S15. The maximum lod score was 0.289 (recombination fraction rate was 0.14).
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PMID:[Familial early onset cerebellar ataxia with hypoalbuminemia]. 766 33

A 59-year-old female with 20-year history of slowly progressing muscle atrophy and sensory disturbance of upper extremities showed short stature, scoliosis, hunger type of sensory dissociation of the upper extremities and pyramidal tract sign of the lower extremities. Magnetic resonance imaging (MRI) clarified hypoplasia of the anterior pituitary lobe, Arnold-Chiari malformation and cervical syringomyelia. Insulin and arginine stimulating tests revealed partial type of isolated growth hormone (GH) deficiency but GH gene analysis detected no defects of GH genes. It was considered to be a rare case of non-hereditary hypopituitarism with Chiari malformation and syringomyelia not associated with perinatal injury, namely a midline anomaly syndrome.
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PMID:Isolated partial growth hormone deficient short stature with syringomyelia not associated with birth injury. 974 53

We performed a retrospective review of 27 scoliotic patients with syringomyelia using MRI. Their mean age at the first MRI examination was 10.9 years, and at the final review 15.8 years. The mean ratio of the diameter of the syrinx to the cord on the midsagittal MRI (S/C ratio) decreased from 0.49 to 0.24; 14 patients showed a decrease of 50% or more (reduction group). In this reduction group, the cerebellar tonsillar herniation decreased from a mean of 11.3 mm to 6.0 mm, and some improvement in dissociated sensory disturbance was seen in nine of 13 patients. The scoliosis improved by 5 degrees or more in six patients in the reduction group. Our results indicate that spontaneous shrinkage of syringomyelia in children is not unusual and is associated with improvement in the tonsillar herniation, the scoliosis and the neurological deficit.
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PMID:Natural history of scoliosis in children with syringomyelia. 1134 22

Charcot-Marie-Tooth disease type 4H (CMT4H) is an autosomal recessive demyelinating neuropathy. It presents as infancy or early childhood-onset neuropathy associated with FGD4 mutations. Clinically it causes predominantly distal muscle weakness. On nerve biopsy examination, myelin outfoldings are seen. The previous case reports have been from regions bordering the Mediterranean, as well as a family from Northern Ireland. This paper presents the detailed clinical course of the first reported case of CMT4H in a Japanese woman. The patient showed mild weakness without scoliosis and a severe sensory disturbance; her functional impairment was less severe than the previously published cases. In addition, a novel homozygous FGD4 c.837-1G>A mutation was identified in this patient.
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PMID:The first Japanese case of Charcot-Marie-Tooth disease type 4H with a novel FGD4 c.837-1G>A mutation. 2377 Jan 4

Tethered spinal cord can cause neurological, orthopaedic and sphincteric problems in children and detethering surgery may prevent or reverse these problems. This 5 year retrospective cohort study aimed to review our experience of detethering surgery at The Children's Hospital at Westmead, Sydney, Australia, particularly examining the early post-operative complications of this procedure. Between 2007 and 2012, 61 children underwent 63 detethering procedures. The median age at detethering surgery was 1.4 years old (interquartile range: 0.7-5.6 years). Fifty-five children (90.1%) had lumbosacral procedures, 31 (50.8%) were asymptomatic from tethering, 11 (18.0%) had motor or gait disturbance, 11 (18.0%) sphincteric disturbance, eight (13.1%) lower limb orthopaedic deformities, eight (13.1%) scoliosis, six (9.8%) back or leg pain and two (3.3%) sensory disturbance. The most common tethering pathologies were spinal lipomas in 32 children (52.5%), filum abnormalities in 23 (37.7%), dorsal sinus tracts in eight (13.1%) and diastematomyelia in seven (11.5%). Twenty-six children (42.6%) had either a syrinx or central canal dilatation preoperatively. The most common complications were wound infection and cerebrospinal fluid leak. Six children (9.8%) required reoperation for wound issues and two patients (3.3%) required subsequent reoperation for cord retethering during the study period. There were no deaths and no new neurological deficits. Of the children with the above preoperative deficits, 26.7% were documented to have improvement or resolution of their symptoms post-operatively. The highest rate of improvement occurred in children with motor or gait disturbance (36.4%) or sphincteric disturbance (27.3%).
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PMID:Spinal cord detethering procedures in children: a 5 year retrospective cohort study of the early post-operative course. 2581 62


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