Co-occurrence of lumbar spondylolysis and lumbar disc herniation with lumbosacral nerve root anomaly

Yılmaz, Tevfik; Turan, Yahya; Gülşen, İsmail; Dalbayrak, Sedat

doi:10.4103/0974-8237.139211

Cited by 10 publications

(3 citation statements)

References 16 publications

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“…In the latter case, patients with spondylolysis may also show spina bifida occulta, scoliosis, spondylolisthesis, disk herniation, Scheuermann's disease (8,19), or a combination of several other nonskeletal related disorders. In particular, dysplastic spondylolysis with spondylolisthesis was also found, as an accompanying sign, in several patients with autosomal dominant brachydactyly (OMIM ID 113100).…”

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confidence: 99%

Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene

Cai

Liu

Cai

et al. 2015

Proc. Natl. Acad. Sci. U.S.A.

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Spondylolysis is a fracture in part of the vertebra with a reported prevalence of about 3–6% in the general population. Genetic etiology of this disorder remains unknown. The present study was aimed at identifying genomic mutations in patients with dysplastic spondylolysis as well as the potential pathogenesis of the abnormalities. Whole-exome sequencing and functional analysis were performed for patients with spondylolysis. We identified a novel heterozygous mutation (c.2286A > T; p.D673V) in the sulfate transporter gene SLC26A2 in five affected subjects of a Chinese family. Two additional mutations (e.g., c.1922A > G; p.H641R and g.18654T > C in the intron 1) in the gene were identified by screening a cohort of 30 unrelated patients with the disease. In situ hybridization analysis showed that SLC26A2 is abundantly expressed in the lumbosacral spine of the mouse embryo at day 14.5. Sulfate uptake activities in CHO cells transfected with mutant SLC26A2 were dramatically reduced compared with the wild type, confirming the pathogenicity of the two missense mutations. Further analysis of the gene–disease network revealed a convergent pathogenic network for the development of lumbosacral spine. To our knowledge, our findings provide the first identification of autosomal dominant SLC26A2 mutations in patients with dysplastic spondylolysis, suggesting a new clinical entity in the pathogenesis of chondrodysplasia involving lumbosacral spine. The analysis of the gene–disease network may shed new light on the study of patients with dysplastic spondylolysis and spondylolisthesis as well as high-risk individuals who are asymptomatic.

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confidence: 99%

Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene

Cai

Liu

Cai

et al. 2015

Proc. Natl. Acad. Sci. U.S.A.

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“…Incidence ranges from 1.3% found during surgery 4 to 2 to 6.7% detected through imaging methods before surgery 3,9-11 and from 8.5% to 30% during studies of cadavers. 12 Most frequently they are reported to be unilateral, usually at level L5-S1, [1][2][3]5,6 and can be a cause of operative failure. 2,13 Of the 200,000 patients operated on annually for herniated intervertebral disks in the United States, 33% were unsuccessful operations.…”

Section: Introductionmentioning

confidence: 99%

“…1,17 Preoperative and perioperative evaluations should be thorough to prevent nerve injury during surgery. 12,15,18 A summary of previous studies revealed some difficulties in diagnosis. Most of the work on lumbosacral nerve root anomalies involved one patient (case reports) or a small series of patients.…”

Section: Introductionmentioning

confidence: 99%

Extradural Characteristics of the Origins of Lumbosacral Nerve Roots

Haviarová

Matejčı́k

Kuruc

et al. 2018

J Neurol Surg A Cent Eur Neurosurg

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Background and Study Aims A great number of unsuccessful intervertebral herniated disk surgeries in the lumbosacral region have highlighted the importance of a comprehensive knowledge of the different types of nerve root anomalies. That knowledge gained by anatomical studies (and intraoperative findings) might contribute to better results. In our study we focused on intraspinal extradural lumbosacral nerve root anomalies and their possible role in radiculopathy. Material and Methods The study was performed on 43 cadavers within 24 hours after death (32 men and 11 women). Bodies were dissected in the prone position, and a laminectomy exposed the entire spinal canal for the bilateral examination of each spinal nerve root from its origin to its exit through the intervertebral foramen or sacral hiatus. Uncommon extradural features in the lumbosacral region were pursued and documented. The spinal dural sac was also opened, aimed at recognizing the normotyped, prefixed, or postfixed type of plexus. Results A total of 20.93% of anomalies of extradural lumbosacral nerve root origins were observed, with the normotyped plexus prevailing. We observed atypical spacing of exits of lumbosacral roots (four cases), two roots leaving one intervertebral foramen (one case), extradural anastomoses (two cases), and missing extradural nerve root courses (two cases). The results were differentiated according to the normotyped, prefixed, or postfixed plexus type. Conclusion Results of similar studies dealing with anomalies of lumbosacral nerve roots were aimed at improving the results of herniated disk surgeries because ∼ 10% of misdiagnoses are related to ignorance of anatomical variability. Our observations may help explain the differences between the clinical picture and generally accepted anatomical standards.

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