Central neurofibromatosis; report of two cases, one with benign, the other with malignant multiple neurogenous tumors of the spinal canal.
Explore the source record for details and available documents.
SEARCH · Search PubMed
Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Midsagittal diameter (MSD) and interpedicular distance (IPD) in the thoracolumbar junctional region (T10-L1) of 24 male cadaveric spines were measured both from radiographs and directly from bones after removal of the soft tissues in order to assess the accuracy of plain radiographs. In addition surface areas of the vertebral canals were measured also from bone samples. It was found that the mean difference between bone and radiographic measurements in the IPD on different vertebral levels was 1.0 mm (r = 0.98). The MSD was a more difficult measurement, but the correlation coefficient was still 0.70, the mean difference being 0.7 mm or less. The sum of the MSD and IPD showed good relationship with the cross sectional area of the spinal canal, and the correlation coefficient was 0.77 (P less than 0.001).
The study of the lumbar canal sizes in Chinese has not been reported before. Thirty adult patients, aged 20 to 40 years, who sustained thoracolumbar or lumbar fracture-dislocation and needed further computed tomographic (CT) scanning were included in this study. There was no significant back pain or sciatica on these patients before. Measurements of the med-sagittal anteroposterior (A-P) and interpedicular (I-P) diameters of the spinal canals L1 to L5 were requested at the same time during CT scanning. The results show that the lowest normal limits of the A-P and I-P diameters of the lumbar canals in Chinese are 11 mm and 19 mm respectively. The I-P diameters increase progressively from the first to the fifth vertebrae. The A-P diameters, however, are more variable and shortest at L2, L3 and L4 vertebrae.
We identified a Japanese family with congenital fibrosis of the extraocular muscles, including 24 affected individuals through five generations. To determine their form of congenital fibrosis of the extraocular muscles, we performed clinical and linkage studies. DNA typing for linkage to the FEOM1 (12p11.2-q12) and FEOM3 (16qter) loci was performed on genomic DNA, using fluorescent microsatellite polymorphic markers. All affected individuals shared the common manifestations of congenital fibrosis of the extraocular muscles type 1 including congenital ptosis, infraducted globe position in primary gaze, and upward gaze palsy in both eyes. Unexpectedly, we found apparent spinal canal stenosis in the cervical spine in all affected family members who were examined. Genetic analysis revealed linkage to the FEOM1 locus with a maximum lod score of 4.42 at theta of zero. One affected family member harbored a recombination event between D12S345 and D12S1692, narrowing the FEOM1 locus from the published 3-cM region flanked by D12S1584 and D12S1668 to a 2.1-cM region flanked by D12S345 and D12S1668. Thus, we have established that this family segregates congenital fibrosis of the extraocular muscles type 1 as an autosomal dominant trait and that their disorder both maps to and refines the FEOM1 locus. This is the first clinical and genetic report of such a family in the Japanese population and the first report of spinal involvement in congenital fibrosis of the extraocular muscles.
PURPOSE: To determine the appearance of spinal tumors on magnetic resonance (MR) images of patients with neurofibromatosis 2 (NF2), to assess the biologic behavior of these tumors, and to determine the correlation between NF2 germline mutations and these tumors. MATERIALS AND METHODS: Spinal MR images in 49 patients with NF2 were reviewed retrospectively. Intramedullary and intradural extramedullary tumors were counted, and imaging features and growth patterns of intramedullary tumors were determined. Medical records were reviewed for spinal tumor surgery. Data on spinal tumors and NF2 germline mutations in 37 patients from 19 families were analyzed for genotype-phenotype correlation. RESULTS: Thirty-one patients (63%) had spinal tumors: Twenty-six (53%) had intramedullary tumors, 27 (55%) had intradural extramedullary tumors, and 22 (45%) had at least one tumor of each type. Three (12%) patients with intramedullary tumors versus 16 (59%) with extramedullary tumors had undergone surgery for the respective types of tumors. Compared with patients with all other types of mutations, a higher percentage of patients with nonsense and frameshift mutations had intramedullary tumors (P <.025); these patients also had higher mean numbers of all tumors (P <.001), intramedullary tumors (P <.001), and nerve sheath tumors (NSTs) (P <.001). CONCLUSION: In patients with NF2 and spinal tumors, extramedullary tumors (predominantly NSTs) were present in higher numbers and were associated with more surgery than were intramedullary tumors. Our data suggest that the association between nonsense and frameshift mutations and severe NF2 may extend to specific categories of spinal tumors.
Computer tomography of the cervical spinal canal was carried out in 54 patients after the intrathecal injection of metrizamide (CT myelography). In 43 patients this was done after conventional myelography, in eleven it was the primary examination. In 32 patients the examination proved normal and in 22 abnormal. Correlation between the CT findings and conventional myelography was excellent. Quite small intraspinal structures both normal and abnormal, could be demonstrated. CT myelography is particularly valuable for determining the special relationships within the vertebral canal. The procedure can supplement and confirm conventional myelography, for instance round the foramen magnum. Under certain circumstances it may be regarded as the method of choice, since it is simpler for the patient and less likely to produce complications due to the contrast medium.
Seventy-nine patients (54 adults, 25 children) with ependymomas of the brain or spinal canal were treated by radiotherapy between 1956 and 1980. The survival was 50% at 5 years and 40% at 15 years and was significantly better in adults than in children. Survival did not depend upon the extent of surgical removal, site of tumour or histological grade. Cranio-spinal radiation may improve survival in children.
22 patients were operated on because of a benign mesenchymal tumor in the spinal canal. 14 women and 8 men were affected, the average age being 37 years. Preoperatively 7 patients showed an incomplete or complete transverse lesion with a mean duration of the disease being 30 months. After the operation 19 patients showed an improvement, of these 17 were able to walk by themselves. 10 patients became again fit to work. One patient died after the operation.
45 patients were operated on because of a malignant mesenchymal process in the spinal canal. 27 men and 18 women were affected, the average age at the time of operation being 37 years. Preoperatively 40 patients already showed an incomplete or complete transverse lesion with a mean duration of the disease being 9 months. After the operation 21 patients showed an improvement, of these 12 were able to walk by themselves. The total mortality with an after-observation period of three years amounted to 64.4 per cent (29 cases).
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.