Multiple Vertebral Malformations Research Articles

Results of simultaneous and staged surgical techniques for the correction of congenital spine deformities associated with intracanal anomalies in children

Objective. To compare the results of simultaneous and staged corrective surgical interventions for congenital spine deformities associated with intracanal anomalies. Material and Methods. Design: retrospective mono-center observational case-control study. The study included the results of 127 surgeries performed in 49 patients aged from 4 months to 17 years at the time of surgery (mean age 9.2 years). The average follow-up period was 49 months. The study group included 33 patients who underwent simultaneous (in one surgical session) removal of the intracanal component and correction of spine deformity. In the control group (16 children), these interventions were performed in stages. The analysis criteria were: the comparability of groups: the structure of anomalies of the spine, spinal canal and spinal cord, concomitant maldevelopment of organs and systems, and the presence of skin markers; and the comparison of groups: the total volume of blood loss, the duration of surgery, the magnitude of the spine deformity and the neurological status of patients assessed before and after corrective surgery, and complications. Results. Spine pathology was predominantly represented by variants of segmentation failure in 41 (59.0 %) patients and multiple vertebral malformations with a leading component of segmentation failure in 22 (33.0 %) patients. Among pathologies of the spinal canal, Arnold-Chiari malformation (17 patients, 25.0 %) and type 1 diastematomyelia (22 patients, 32.0 %) dominated. In the neurological status, Frankel types D and E prevailed at baseline, accounting for 27.3 % and 42.4 % in the study group, and 25.0 % and 37.5 % in the control group, respectively. Skin markers were detected in 34 (69.0 %) patients. The scoliotic component of the deformity prevailed; the kyphotic component was detected in 17 (35.0 %) cases. The mean magnitude of scoliotic deformity before surgery was 28° (min 20°; max 105°), after surgery 10° (min 0°; max 70°). Correction in the study group was 68 %, in the control one – 57 %. The average duration of surgery in the study group was 227 min, in the control group – 198 min for the first operation and 204 min for subsequent ones. The average volume of blood loss in the study group was 286.6 ml, in the control group – 247.5 ml during the first operation and 266.6 ml during the subsequent ones. There were no significant changes in neurological status after surgery in both groups. Transient neurological complications were observed in 2 (4.5 %) patients of the study group and in 1 (4.0 %) in the control group. It was statistically proven that simultaneous intervention provides significantly lower blood loss with a comparable orthopedic result of surgery, which indicates the preferred use of a combined surgical technique. Conclusion. Performing neurosurgical and orthopedic (correction) stages in children with congenital spine deformities and spinal canal malformations in one surgical session is not statistically associated with a greater surgical aggression and complication rate, but is accompanied by a significantly lower total blood loss. Simultaneous intervention provides somewhat better initial correction of the deformity, eliminates the need for staged interventions, and also reduces the likelihood of complications potentially associated with each surgery.

Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis

BackgroundCongenital scoliosis (CS) is a common vertebral malformation. Spondylocostal dysostosis (SCD) is a rare skeletal dysplasia characterised by multiple vertebral malformations and rib anomalies. In a previous study, a compound...

Screening of known disease genes in congenital scoliosis.

BackgroundCongenital scoliosis (CS) is defined as a lateral curvature of the spine due to the vertebral malformations and has an incidence of 0.5–1/1,000 births. We previously examined TBX6 in Japanese CS patients and revealed that approximately 10% of CS was caused by TBX6 mutations. However, the genetic cause of remaining CS is unknown.MethodsWe recruited 78 CS patients without TBX6 mutations and major comorbidities, and investigated the genes previously reported to be associated with CS and congenital vertebral malformations by whole‐exome sequencing.ResultsWe identified the compound heterozygous missense variants in LFNG in one patient. No likely disease‐causing variants were identified in other patients, however. LFNG encodes a GlcNAc‐transferase. The LFNG variants showed loss of their enzyme function.ConclusionsA LFNG mutation is reported in a case of spondylocostal dysostosis (SCD), a skeletal dysplasia with severe malformations of vertebra and rib. The CS patient with LFNG mutations had multiple vertebral malformations including hemivertebrae, butterfly vertebrae, and block vertebrae, and rib malformations. LFNG mutations may cause a spectrum of phenotypes including CS and SCD. The current list of known disease genes could explain only a small fraction of genetic cause of CS.

Surgical treatment of congenital kyphosis caused by multiple vertebral malformations

Clinical case of successful operative treatment of congenital kyphosis is reported. Deformation was caused by multiple lower thoracic and lumbar vertebral body abnormalities. Associated spinal abnormalities were outspread absence of laminae, hydromyelia, and diastematomyelia. Preoperative computed tomography analysis revealed absence of instrumentable bony structures within malformed lower thoracic and lumbar spine. As instrumented fusion procedure was technically impossible anterior fusion without internal fixation was performed. Autogenous rib was used as a bone graft. Bone graft was extended with calcium sulphas (osteoconductive media), demineralized allograft bone matrix (osteoinductive media), and patient’s bone marrow aspirate (osteogenic media). Resulting combined bone grafting material possessed osteoconductivity, osteoinductivity, ostegenicity, and mechanical strength. At 18 months post operation follow-up computed tomography revealed solid bony fusion formation. Some neurologic improvement also was noticed. Congenital kyphosis caused by multiple outspread vertebral malformations remains insufficiently studied clinical problem. Affected children need individual multidisciplinary surgical approach, meticulous surgical planning, and regular neurological, imaging, and orthopedic follow-up until the end of bone growth. Absence of instrumentable bony structures in desired spinal arthrodesis does not preclude successful fusion. Combination of several heterogenous bone grafting materials with different properties provides fusion in difficult clinical setting.

Susceptibility weighted imaging in evaluation of the fetal vertebra and vertebral anomalies

Objective To explore the advantages of susceptibility weighted imaging (SWI) in depiction of normal fetal vertebra and vertebral anomalies. Methods This prospective study was approved by our institutional review board, and written informed consent was obtained from every participant,Fifty-eight pregnant women (gestation age 22 to 39 weeks, average 29±3 weeks) who were suspected of carrying babies with vertebral anomalies by ultrasound screening underwent 1.5 T fetal spine MRI[including half-fourier acquisition single-shot turbo spin-echo(HASTE), true fast imaging with steady-state (True FISP) and SWI sequences]. MR images were reviewed for their quality by two radiologists independently. The image scores in HASTE, True FISP and SWI were compared by using Kruskal-Wallis test and Mann-Whitney U test. Three segments (cervical, thoracic and lumbosacral segments, respectively) of 15 fetuses were, at random, collected to compare among HASTE,True FISP and SWI and then evaluated by ANOVA analysis.The diagnostic accuracy of the three sequences among 32 cases with follow-up results was calculated respectively and compared by using Chi-square test. Results There was statistical differences among three sequences(χ2=50.685,P 0.05).A total of 32 fetal vertebral anomalies were identified by follow-up after birth including hemivertebra (n=14), fusion of vertebrae (n=1), butterfly vertebra (n=1),multiple vertebral malformations (n=9),spinal bifida (n=5),caudal regression syndrome (n=2). The diagnostic accuracy of SWI, True FISP and HASTE was 93.75% (30/32), 56.25% (18/32) and 37.50% (12/32) respectively. The diagnostic accuracy of SWI was the best compared to that of True-FISP and HASTE (χ2=10.083, 20.017;P<0.01). Conclusion SWI proved to be the optimal technique in depiction of fetal vertebra and vertebral anomalies than True FISP and HASTE, especially in depiction of cervical vertebra. Key words: Fetus; Spine; Congenital abnormalities; Magnetic resonance imaging; Susceptibility weighted imaging

THREE COLUMN VERTEBRECTOMY OUTSIDE THE APICAL ZONE AS A METHOD FOR CORRECTION OF CERVICOTHORACIC JUNCTION DEFORMITIES: ANALYSIS OF CLINICAL SERIES AND LITERATURE DATA

Objective. To perform a retrospective analysis of early treatment results in patients with malformation and malsegmentation of vertebrae in the cervical and upper thoracic spine. Level of evidence – IV. Material and Methods . The study included retrospective monocentre series of 8 patients aged 2–15 years. Inclusion criteria were: age at the time of surgery less than 15 years, deformity in the frontal plane, performed three-column osteotomyies, and presence of full X-ray history. Results . Patients with multiple developmental abnormalities including vertebral malsegmentation and malformation as leading components prevailed in a series. Violations of the sagittal balance were not noted. Preoperative magnitude of the scoliotic curve ranged from 30° to 66 ° (mean value – 46.1°) according to Cobb, with a frontal imbalance in 6 (75 %) patients. After surgery, residual scoliosis magnitudes were from 3° to 34° (mean value – 15.3°), the frontal balance was restored in all cases. The amount of correction ranged from 49 to 90 % (mean 69.4 %). Neurological status of patients was clinically normal, deviations from the norm were insignificant and recorded only based on ENMG data. Conclusion . The use of vertebrectomy outside the apical zone in children with multiple vertebral malformations in the cervical and upper thoracic spine allows an adequate deformity correction with restoration of the spine balance, and minimizing the risk of neurological complications due to the leading compression maneuver of correction. This reduces the area of instrumental fixation, which is important for maintaining axial growth.

ВЫБОР ХИРУРГИЧЕСКОЙ ТАКТИКИ ПРИ ВРОЖДЕННЫХ ДЕФОРМАЦИЯХ ПОЗВОНОЧНИКА НА ФОНЕ МНОЖЕСТВЕННЫХ ПОРОКОВ ПОЗВОНКОВ

Objective. To perform retrospective review of the natural history of spinal deformities caused by multiple vertebral malformations and to develop an algorithm for surgical correction with regard to a leading malformation. Material and Methods. Treatment results in 94 patients aged 5 months to 33 years with congenital spinal deformities and multiple vertebral malformations were reviewed. Surgery was performed in 81 patients who were followed-up for 6 months to 5 years. Vertebral and thoracic syndromes, neurological dynamics, and functional disorders were evaluated. An algorithm for detection of the leading malformation was applied to predict a natural course of spinal deformity associated with multiple malformations and to choose a surgical approach. Results. Patients were divided into four groups depending on the type of multiple vertebral anomalies: monosegmental (isolated), polysegmental, outspread multiple, and complicated. The approach to choosing of surgical tactics was offered. Conclusion. Indications for surgical treatment of spinal deformities caused by multiple vertebral malformations appear to be life-saving. Surgical treatment for this cohort of patients may be performed only after comprehensive examination. The identification of leading malformation is necessary to determine the volume of surgical intervention.

Surgical treatment of diastematomyelia using ct-based navigation system (case report)

The authors presented the clinical observation of the patient 14 years old with congenital malformation of the spinal canal associated with congenital scoliosis and multiple vertebral malformations. The main congenital malformation was diastematomyelia type I at level Th11-Th12, fixed spinal cord syndrome and flail legs. The surgery was performed in the following way: removal of the bone septum of the spinal canal and elimination of the spinal cord fixation using 3D computer navigation. Using 3D navigation allowed exactly to detect the location of the bone septum, creating conditions for reducing the extent of surgical access and minimizing the area of the approach to the same bone spicules. These factors allowed to manage in postoperative period without additional external orthotics. The observation period for patients was 1 year 7 months after surgery.

A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1α

The authors report a patient with mild mental retardation, autistic features, multiple vertebral malformations, and an unusual facial appearance who carries a de novo submicroscopic deletion of chromosome 2p16.3. The...