OBJECTIVE: To analyze the clinical features and molecular genetic etiology of a patient with 3-M (Miller McKusick Malvaux) syndrome from a consanguineous parentage family, and to explore the relationship between genotype and phenotype. METHODS: After the consent of the proband's guardian and the informed consent form was signed, DNA was extracted from peripheral blood samples of the proband and her parents for chromosome microarray analysis, medical exome sequencing and parental verification. RESULTS: A total of 247.1 Mb loss of heterozygosity was found in the proband with a CytoScan 750K array. Furthermore, a homozygous variant (c.458dupG) of the OBSL1 gene was found using high-throughput sequencing, which was inherited from her parents. Based on the criteria and guidelines of genetic variation of American College of Medical Genetics and Genomics, the variant is predicted to be pathogenic (PVS1+PM2+PP4), and only one case was reported previously. CONCLUSION Spina bifida occulta and lower eyelid fat pad may be a special phenotype of c.458dupG variant of the OBSL1 gene. Our study may provide a useful reference for evaluating the relationship between genotype and phenotype of 3-M syndrome type 2.
Cytoskeletal Proteins ; Dwarfism ; Female ; Genomics ; Humans ; Molecular Biology ; Muscle Hypotonia ; Mutation ; Pedigree ; Spine/abnormalities* ; Whole Exome Sequencing

We report 13 children fulfilling criteria of Alagille syndrome. All had chronic cholestasis secondary to paucity of intrahepatic bile ducts and triangular facies. Eight children had associated congenital heart disease (six pulmonic stenosis, one each tetralogy of Fallot and patent ductus arteriosus), seven with butterfly vertebrae and one with posterior embryotoxon. Seven of the 13 children are alive and jaundice-free but three with concomitant hypercholesterolemia; the six other children died of liver-related complications.
Butterflies ; Bile Ducts, Intrahepatic ; Jaundice ; Musculoskeletal Abnormalities ; Spine

STUDY DESIGN: Retrospective single institutional observational study. PURPOSE: Segmental spinal dysgenesis (SSD), a complex spinal dysraphic state caused by notochord malformation disorders, is named after its morphological presentation where a spine segment is dysgenetic, malformed or absent. This study’s objective was to examine and reassess SSD imaging findings and correlate them with an embryological explanation. OVERVIEW OF LITERATURE: Scott and his colleagues defined SSD as segmental agenesis or dysgenesis of the lumbar or thoracolumbar vertebrae and underlying spinal cord. Tortori-Donati and his colleagues defined it as a morphologic continuum ranging from hypoplasia to an absent spinal cord segment. METHODS: Fifteen children, whose imaging findings and clinical features were consistent with SSD, were included in the study. Magnetic resonance imaging (MRI) was performed per institutional spine protocol. RESULTS: Five children (33.3%) presented with a high-ending bulbous cord with no caudal segment, six (40%) presented with a dorsal or lumbar segmental dysgenetic cord with a low-lying, bulky caudal cord but without significant spinal canal narrowing, and four (26.6%) presented with segmental caudal dysgenesis with severe kyphoscoliosis, gibbus deformity, and spinal canal narrowing with a normal distal segment (normal or low-lying). CONCLUSIONS: SSD is a complex spinal anomaly in children requiring clinical-radiological assessment followed by multidisciplinary management based on the extent and severity of the dysgenetic cord and the type of SSD. MRI plays a crucial role in both diagnosing and classifying SSD prior to surgical treatment to prevent further impairment.
Child ; Congenital Abnormalities ; Humans ; Magnetic Resonance Imaging ; Notochord ; Observational Study ; Retrospective Studies ; Scoliosis ; Silver Sulfadiazine ; Spinal Canal ; Spinal Cord ; Spine

STUDY DESIGN: A retrospective study. PURPOSE: To investigate the incidence of iliac screw loosening with a two-rod vs. multi-rod construct and the effect on clinical and radiographic outcomes after surgery for adult spinal deformity (ASD). OVERVIEW OF LITERATURE: Multi-rod construct is useful for preventing rod fracture in ASD surgery. However, limited information is available regarding the incidence of iliac screw loosening after corrective fusion surgery using a multi-rod construct. METHODS: Total 106 patients with ASD (24 men and 82 women; mean age, 68 years) who underwent corrective fusion surgery using bilateral iliac screws and were followed up for at least 1 year were reviewed. The following variables were compared between patients who underwent surgery with a two-rod and multi-rod construct: age, sex, bone mineral density (BMD), fusion level, high-grade osteotomy, L5/S interbody fusion, screw loosening (upper instrumented vertebra [UIV], S1, and iliac), rod fracture, proximal junctional kyphosis, spinopelvic parameters, and Oswestry Disability Index (ODI) score. We also compared patients with and without iliac screw loosening in the multi-rod construct group. RESULTS: Of the 106 patients, 55 underwent surgery with a conventional two-rod construct and 51 with a multi-rod construct (three rods in 16, four rods in 35). Iliac and UIV screw loosening was observed in 24 patients (21%) and 35 patients (33%), respectively. The multi-rod group showed significantly higher incidence of iliac and UIV screw loosening and lower incidence of rod fracture. Patients with iliac screw loosening had a lower BMD than those without screw loosening; however, no significant differences were observed in the spinopelvic parameters or the ODI score. CONCLUSIONS: The use of multi-rod constructs led to a higher incidence of junctional screw loosening than the use of conventional two-rod constructs, especially in patients with osteoporosis. Iliac screw loosening did not affect sagittal alignment or clinical outcome in the short term.
Adult ; Bone Density ; Congenital Abnormalities ; Female ; Humans ; Incidence ; Kyphosis ; Male ; Osteoporosis ; Osteotomy ; Retrospective Studies ; Spine

STUDY DESIGN: Randomized controlled single-blinded clinical trial. PURPOSE: To evaluate the efficacy of Schroth therapy on thoracic curve angle, pain, and self-perceived body image (SPBI) of the back in Scheuermann's patients in comparison with the efficacy of classic anti-gravitation exercises. OVERVIEW OF LITERATURE: Scheuermann disease is the most common cause of hyperkyphosis of the thoracic and thoracolumbar spine during adolescence. However, very few studies evaluated the effect of exercises on the progression of kyphosis in Scheuermann patients. Schroth three-dimensional exercise therapy was found in several studies to be effective in the treatment of adolescent scoliosis; however, we found no randomized controlled trials that evaluated the efficacy of this method in Scheuermann patients. METHODS: A total of 50 young adults (males and females) with Scheuermann's disease were randomly divided into either the experimental group (Schroth therapy treatment, n=25) or the control group (classic anti-gravitation exercises, n=25). Participants in both the groups were provided a course of individual treatment sessions during few weeks, with one appointment per week. They were required to perform the exercises daily throughout the study period (12 months) and fill their performance in a research log. We evaluated the thoracic Cobb angle (main outcome measure), pain, SPBI, flexion of the shoulder (supine), flexion of the shoulder (standing), kyphotic deformity measured using inclinometer, and L5 kyphosis apex line (L5-KAL) as well as administered the Scoliosis Research Society-22 Questionnaire for the participants before the treatment, after 6 months, and 1 year postoperatively. These results were then compared. RESULTS: In the mixed analysis of variance, the main effect of time was significant in the thoracic kyphosis (F [1]=5.72, p=0.02), and in the L5-KAL (F [1]=5.76, p=0.02). The main effect of time on the kyphotic deformity, measured using an inclinometer, did not reach the significance level; however, it showed the tendency (F [1]=2.80, p=0.07). In the group-by-time interaction, a significant difference was found in the thoracic kyphosis (F [1]=4.91, p=0.03) and in the kyphotic deformity, measured using an inclinometer (F [1]=4.05, p=0.02). Thus, the Schroth therapy group showed significantly greater improvement than the classic anti-gravitation exercises group. CONCLUSIONS: The present findings indicate that back exercises in general, and Schroth therapy in particular, is an effective treatment for preventing and significantly improving the thoracic Cobb angle and symptomatic representation in Scheuermann's patients.
Adolescent ; Body Image ; Congenital Abnormalities ; Exercise ; Exercise Therapy ; Humans ; Kyphosis ; Methods ; Physical Therapy Modalities ; Posture ; Quality of Life ; Randomized Controlled Trials as Topic ; Scheuermann Disease ; Scoliosis ; Shoulder ; Spine ; Young Adult

Globally, the elderly population is increasing rapidly, which means that the number of deformity correction operations for elderly spine deformity patient has increased. On the other hand, for aged patients with deformity correction operation, preoperative considerations to reduce the complications and predict a good clinical outcome are not completely understood. First, medical comorbidity needs to be evaluated preoperatively with the Cumulative Illness Rating Scale for Geriatrics or the Charlson Comorbidity Index scores. Medical comorbidities are associated with the postoperative complication rate. Managing these comorbidities preoperatively decreases the complications after a spine deformity correction operation. Second, bone densitometry need to be checked for osteoporosis. Many surgical techniques have been introduced to prevent the complications associated with posterior instrumentation for osteoporosis patients. The preoperative use of an osteogenesis inducing agent
Aged ; Comorbidity ; Compensation and Redress ; Congenital Abnormalities ; Densitometry ; Geriatrics ; Hand ; Humans ; Lower Extremity ; Osteogenesis ; Osteoporosis ; Pelvis ; Postoperative Complications ; Posture ; Spine ; Teriparatide

STUDY DESIGN: Retrospective study.PURPOSE: To evaluate the effect of bracing on spinopelvic rotation and psychosocial parameters in adolescents with idiopathic scoliosis (AIS).OVERVIEW OF LITERATURE: Complex three-dimensional deformity in AIS is proposed to influence the spinopelvic parameters and psychosocial condition in adolescents; however, few studies have quantitatively evaluated these parameters.METHODS: Thirty AIS who were prescribed a brace were included in the study. The patients’ standing postero-anterior and total spine radiographs were used to measure the primary curve Cobb angle, vertebral rotation, and pelvic rotation. Apical vertebral rotation (AVR), upper AVR, and lower AVR were measured using the Nash-Moe method. Pelvic rotation was determined using the left-to-right hemipelvic width ratio. The curve pattern was classified as per the Lenke classification system. In all, 14 patients had a type I curve, five had type II, six had type III, one had type IV, and four had type V curves. Brace compliance was subjectively evaluated by interviewing the patients and their parents. The health-related quality of life (HRQOL) and stress level of the recruited patients were assessed using the Brace Questionnaire and Bad Sobernheim Stress Questionnaire, respectively.RESULTS: The Cobb angle significantly decreased with at least 6 months of brace use. AVR correction changed significantly; however, no such results were observed for upper and lower AVR. Pelvic rotation and psychosocial parameters were not significantly affected by brace use. No statistically significant correlation was observed between brace compliance and curve correction.CONCLUSIONS: The Cobb angle and AVR are crucial measurements that help evaluate the treatment efficacy in AIS with small curves who undergo brace treatment. HRQOL and pelvic axial rotation are not influenced by the brace treatment.
Adolescent ; Braces ; Classification ; Compliance ; Congenital Abnormalities ; Humans ; Methods ; Parents ; Pelvis ; Quality of Life ; Retrospective Studies ; Scoliosis ; Spine ; Treatment Outcome

STUDY DESIGN: Retrospective and observational study.PURPOSE: The present study aimed to develop guidelines for segment salvage or sacrifice based on the amount and status of the remnant portion of the vertebra as assessed by coronal magnetic resonance imaging (MRI) in addition to sagittal and axial images in thoracic spine tuberculosis (TB).OVERVIEW OF LITERATURE: Indications for surgery have not changed significantly since the ‘middle path regimen’ was proposed by Tuli. Goals of modern surgical management of spinal TB include debridement of diseased vertebrae, spinal cord decompression, deformity correction, and spine stabilization. However, the extent of decompression has not been defined previously. Too less decompression will lead to compromised neurological recovery, whereas large extent of decompression is associated with increased surgical morbidity and longer segment to reconstruct.METHODS: Sixty-five patients with thoracic spine TB were divided into two groups (segment salvage/sacrifice) based on the thickness of the subchondral bone and endplate morphology of the vertebra as seen on MRI. The operative procedure in the form of instrumentation with Hartshill loop rectangle and sublaminar wire using the simultaneous anterior posterior approach in lateral position (versatile approach) was performed. The patients were analyzed for postoperative fusion, improvement in kyphosis angle, and followed up for development of complications.RESULTS: This method of deciding the level of fixation and segment salvage based on coronal MRI in addition to the sagittal and axial images provided good result in 64 of 65 patients, except for one patient in the segment sacrifice group who had graft buckling and resultant kyphosis.CONCLUSIONS: For segment salvage, having a clear three-dimensional idea about the viable remnant bone is important. Viable salvaged segment reduces the morbidity of the procedure, length of the construct, and unnecessary debridement without compromising on the neural recovery and fusion rate. Hence, additional cone down coronal cuts must be required when MRI is suggestive for spinal TB because it will help in the decision making.
Congenital Abnormalities ; Debridement ; Decision Making ; Decompression ; Humans ; Kyphosis ; Magnetic Resonance Imaging ; Methods ; Observational Study ; Retrospective Studies ; Spinal Cord ; Spine ; Surgical Procedures, Operative ; Transplants ; Tuberculosis

STUDY DESIGN: Review article.OBJECTIVES: To assess the evidence for nonoperative treatment of various degenerative spinal degenerative diseases.SUMMARY OF LITERATURE REVIEW: No study has yet evaluated the evidence for preoperative nonoperative treatment of lumbar spinal diseases.METHODS: The evidence regarding nonoperative treatment for each disease was reviewed through NASS guidelines, and the treatment effect compared to surgical treatment was reviewed through the SPORT series. The efficacy of nonoperative treatment according to disease severity and certain special conditions was investigated through corresponding individual articles.RESULTS: No kind of nonoperative treatment could change the fundamental progression of degenerative spinal disease. The natural course of lumbar disc herniation is favorable regardless of treatment. More than 70% of routine cases improve within 6 weeks. However, it does not take a full 6 weeks to decide whether to perform surgery or not. The evidence for transforaminal epidural steroid injections for short-term pain control is grade A. There is grade B evidence for nonoperative treatment with the goal of mid- to long-term pain control. However, we cannot say that those outcomes are better than the natural course of the disease itself. In cases of radicular weakness, the degree of weakness is correlated with the final outcomes, but it is not evident whether the duration of weakness is correlated with surgical outcomes. Early surgery is usually necessary due to intolerable pain, rather than stable motor weakness. The social cost of herniated discs arises from the loss of patients’ productivity, rather than from direct medical expenses. The natural course of spinal stenosis involves provoked pain and the need for palliative care. Unlike disc herniation, rapid deterioration and marked improvement do not occur. The symptoms of mild to moderate lumbar stenosis are unchanged in 70% of cases, improve in 15%, and worsen in 15%. No study has compared nonoperative treatment with the natural course of the disease. There is no evidence for nonoperative treatment of severe stenosis. Epidural spinal injections are effective for controlling short-term pain. Spontaneous recovery of radicular weakness does not occur, and urgent surgery is necessary in such cases. There is no evidence regarding the natural course and nonoperative treatment of degenerative spondylolisthesis. The working group consensus recommends that it should follow the pattern of nonoperative treatment of spinal stenosis when radicular stenosis symptoms are predominant. Overall, 40%–66% of cases of adult bilateral isthmic spondylolysis progress to symptomatic spondylolisthesis. No studies have investigated nonoperative treatment except physical exercise.CONCLUSIONS: Although short-term symptom amelioration can be achieved by nonoperative treatment, the fundamental progression of the disease is not affected. For conditions excluded from most studies, such as prior spine surgery, cauda equina syndrome, progressive neurological deficit, and uncontrollable severe pain associated with instability, deformity, or vertebral fractures, there were not enough studies to reach informed conclusions. Our review found no evidence regarding nonoperative treatment for such conditions. Furthermore, the treatment methods for each disease are not clearly distinguished from each other, and the techniques used for disc herniation have been applied to other diseases without any evidence.
Adult ; Congenital Abnormalities ; Consensus ; Constriction, Pathologic ; Efficiency ; Exercise ; Humans ; Injections, Spinal ; Intervertebral Disc Displacement ; Palliative Care ; Polyradiculopathy ; Spinal Diseases ; Spinal Stenosis ; Spine ; Spondylolisthesis ; Spondylolysis ; Sports

Tuberculous spondylitis, also known as Pott's disease, is a disease involving the spine with progressive destruction. It most commonly involves the thoracic and lumbosacral spine and may result in severe deformity or neurologic deficit. Although cervical spine involvement is rare, it can cause life threatening event. Recently, 70-year-old man presented with progressive dyspnea and dysphagia. Physical examination and radiologic studies showed a huge retropharyngeal abscess with bony erosion and sclerotic change at the adjacent cervical spine. After incision and drainage, it was finally confirmed as a tuberculous abscess. Herein, we report our experience with literature review.
Abscess ; Aged ; Congenital Abnormalities ; Deglutition Disorders ; Drainage ; Dyspnea ; Humans ; Neurologic Manifestations ; Physical Examination ; Retropharyngeal Abscess ; Spine ; Spondylitis ; Tuberculosis ; Tuberculosis, Spinal