Congenital Spinal Abnormalities Research Articles

Prognostic Factors for Curve Progression in De-novo Degenerative Lumbar Scoliosis: A Systematic Review on Observational Studies

Introduction De-novo degenerative lumbar scoliosis (DNDLS) causes an increasing burden on society in aging populations, in particular reducing the overall quality of life due to severe back and leg pain. DNDLS has been reported to undergo unpredictable curve progression.1 To date, little is known about progression in DNDLS and it is unclear what factors play an important role in the process. Indications whether a degenerative scoliotic spine will undergo curve progression forms an ever-increasing challenge for health care providers to determine the optimal timing for therapeutic interventions. Existing reports on this continuously expanding societal problem are inconsistent. Therefore, the aim of this study was to perform a systemic review of the literature to identify prognostic factors for DNDLS curve progression. Material and Methods systematic searches were performed in the bibliographic databases PubMed and EMBASE prior to June 2015. The following inclusion criteria were applied: (1) de novo degenerative lumbar scoliosis, (2) adult scoliosis, (3) curve progression, (4) study population of N ≥ 10, and (5) studies published in the English language. Exclusion criteria were: (1) animal studies, (2) biomechanical studies, (3) prior juvenile, adolescent, associated congenital, developmental, or neuromuscular spinal abnormalities, and (4) history of spinal surgery. Studies that met our inclusion criteria were assessed for methodological quality by two authors (XX and XX) based on: study population, follow-up time, exposure, outcome, and statistical analysis.2 Data was extracted and presented according to a best evidence synthesis which has been adopted and modified from previous studies on prognostic factors in knee and hip arthritis.3,4 Results The literature search generated a total of 2696 references: 1323 in PubMed and 1373 in EMBASE. After removing duplicates and articles that did not meet inclusion criteria, 12 studies were included. Because a large heterogeneity was encountered in measurement methods, statistical analyses, sample sizes, variations in definition of DNDLS and curve progression, pooling was not possible. In total 33 determinants were obtained and grouped into two categories: patient and radiographic characteristics. Strong evidence indicates that intervertebral disc degeneration, lateral vertebral translation ≥6mm, and an intercrest line through L5 are associated with DNDLS curve progression. Further, moderate evidence suggests that apical vertebral rotation grade II or III is associated with curve progression. For the majority of determinants, limited, conflicting, or inconclusive evidence was found. Conclusion Strong evidence was found for several radiographic prognostic factors for DNDLS curve progression. A large variety in definitions of DNDLS and curve progression remains, which made pooling impossible. Additionally, because the sample sizes in the included studies were often small, these results may not be applicable to the individual patient. Large patient registries have shown to provide relevant information about the outcome after surgery for specific patient categories. Similarly, untreated patients with DNDLS should be included in similar registries or long-term prospective trials to be able to identify prognostic factors and to help understand the pathophysiology of curve progression in DNDLS. This is crucial to establish optimal follow-up strategies and timing for therapeutic interventions for this ever-increasing group of patients. References Xu L, Sun X, Huang S, et al. Degenerative lumbar scoliosis in Chinese Han population: prevalence and relationship to age, gender, bone mineral density, and body mass index. Eur Spine J 2013;22(6):1326–1331 Hayden JA, Côté P, Bombardier C. Evaluation of the quality of prognosis studies in systematic reviews. Ann Intern Med 2006;144(6):427–437 Bastick AN, Runhaar J, Belo JN, Bierma-Zeinstra SMA. Prognostic factors for progression of clinical osteoarthritis of the knee: a systematic review of observational studies. Arthritis Res Ther 2015;17:152 Lievense AM, Bierma-Zeinstra SMA, Verhagen AP, Verhaar JAN, Koes BW. Prognostic factors of progress of hip osteoarthritis: a systematic review. Arthritis Rheum 2002;47(5):556–562

Fetal segmental spinal dysgenesis and unusual segmental agenesis of the anterior spinal artery.

Segmental spinal dysgenesis (SSD) is a rare congenital spinal abnormality characterized by segmental dysgenesis or agenesis of the thoracolumbar or lumbar spine, congenital kyphosis, and abnormal configuration of the underlying spinal cord. A unique feature of SSD is that the vertebrae are present above and below the defect, and there is often a lower cord segment in the caudal spinal canal. We report a fetal MRI case of SSD with postmortem and neuropathological correlations. Our report confirms already published findings including the presence of a neurenteric cyst but is the first to document anterior spinal artery segmental agenesis in SSD.

Early diagnosis and treatment of congenital hemivertebra malformation

Hemivertebra (HV) is a congenital spinal abnormality due to a defection of formation of one side vertebral.It is divided into 3 types according to whether it fusion with adjacent vertebral: fully segmented, semi-segmented and incarcerated.HV deformity is diagnosed depending on clinical symptoms, X rays, CT and other examine.Preoperative magnetic resonance imaging of the spine, genitourinary and cardiac ultrasound should be performed at the same time.Congenital scoliosis due to HV especially fully segmented is nonresponsive to bracing, operative treatment is the mainstay of care.The 3 basic operations are fusion in situ, convex growth arrest(epiphysiodesis), and HV resection.The single posterior approach or combined anterior and posterior approach of HV resection with instrumentation is the main method now. Key words: Hemivertebra malformation; Operation treatment; Child

Split cord malformation and meningomyelocele with situs inversus totalis in a child: A rare association

Situs inversus (also called situs transversus) is a rare congenital condition in which the major visceral organs are reversed or mirrored from their normal positions. The association of spinal dyraphism with situs inversus totalis is rare and only few cases have been reported till date. The authors report an infant who presented with meningomyelocele, with split cord malformation type-1 and situs inversus totalis. It is hypothesized that defects of the midline and laterality defects (e.g., situs inversus) are etiologically related and determining genetic locus or implicating various chemical agents that are known to produce situs inversus independently, as the causative factor for spinal dysraphism would further enhance our understanding about the pathogenesis of the above conditions and hence help in better management. A thorough physical examination supplemented by imaging studies of the entire neuraxis with a high index of suspicion for associated developmental abnormalities in a patient with congenital spinal abnormality is necessary.

Neonatal genital prolapse: A case report

Neonatal genital prolapse without congenital spinal abnormality is rare. Several treatment modalities are known to manage this condition. Our management consists of manually reducing the prolapsed mass and applying purse string suture technique.

Skeletal dysplasias from an endocrine point of view

Skeletal dysplasias are complex group of diseases with different clinical and radiologic findings involving bone, and/or cartilage. Although skeletal dysplasias are rarely seen when considered individually, general incidence in the population is 1/3000-5000. Skeletal dysplasias are classified in 40 main groups on the basis of clinical, laboratory, radiological and molecular evaluations, and congenital malformations, spinal abnormalities, short extremities, and disproportionate short stature are seen in sekondereletal dysplasias. In addition to bone abnormalities, endocrine problems including hyperglycemia, hypo/hypercalcemia, adrenal failure, pubertal alterations, and disorders of sexual development which are mostly due to genetic disorders may accompany skeletal dysplasias. Differential diagnosis of skeletal dysplasias requires detailed history and physical examination, skeletal X-rays, genetic analysis, some advanced laboratory methods, and multidisciplinary aproach. In this review, it is aimed to present a general approach to skeletal dysplasias, endocrine abnormalities that may accompany, and the most recent classification published in 2010.

Congenital abnormalities of the vertebral column in ferrets.

Vertebral column pathologies requiring surgical intervention have been described in pet ferrets, however little information is available on the normal vertebral formula and congenital variants in this species. The purpose of this retrospective study was to describe vertebral formulas and prevalence of congenital vertebral anomalies in a sample of pet ferrets. Radiographs of 172 pet ferrets (96 males and 76 females) were included in this retrospective study. In 143 ferrets (83.14%), five different formulas of the vertebral column were recorded with normal morphology of vertebrae (rib attachment included) but with a variable number of thoracic (Th), lumbar (L), and sacral (S) vertebrae. The number of cervical (C) vertebrae was constant in all examined animals. Observed vertebral formulas were C7/Th14/L6/S3 (51.74%), C7/Th14/L6/S4 (22.10%), C7/Th14/L7/S3 (6.98%), C7/Th15/L6/S3 (1.74%), and C7/Th15/L6/S4 (0.58%). Formula C7/Th14/L6/S4 was significantly more common in males than in females (P < 0.05). Congenital spinal abnormalities were found in 29 ferrets (16.86%), mostly localized in the thoracolumbar and lumbosacral regions. The cervical region was affected in only one case. Transitional vertebrae represented the most common congenital abnormalities (26 ferrets) in the thoracolumbar (13 ferrets) and lumbosacral regions (10 ferrets) or simultaneously in both regions (three ferrets). Other vertebral anomalies included block (two ferrets) and wedge vertebra (one ferret). Spina bifida was not detected. Findings from the current study indicated that vertebral formulas may vary in ferrets and congenital abnormalities are common. This should be taken into consideration for surgical planning.

Visuospatial Abilities in Children Operated Upon for Myelomeningocele

Background:Myelomeningocele is a complex congenital spinal abnormality. Patients with myelomeningocele present with a spectrum of impairments, with cognitive dysfunctions being one of them. Nonverbal learning disability (NLD) is an aspect of learning abnormality in which the verbal-related contexts

Male sexual dysfunction and infertility associated with neurological disorders

Normal sexual and reproductive functions depend largely on neurological mechanisms. Neurological defects in men can cause infertility through erectile dysfunction, ejaculatory dysfunction and semen abnormalities. Among the major conditions contributing to these symptoms are pelvic and retroperitoneal surgery, diabetes, congenital spinal abnormalities, multiple sclerosis and spinal cord injury. Erectile dysfunction can be managed by an increasingly invasive range of treatments including medications, injection therapy and the surgical insertion of a penile implant. Retrograde ejaculation is managed by medications to reverse the condition in mild cases and in bladder harvest of semen after ejaculation in more severe cases. Anejaculation might also be managed by medication in mild cases while assisted ejaculatory techniques including penile vibratory stimulation and electroejaculation are used in more severe cases. If these measures fail, surgical sperm retrieval can be attempted. Ejaculation with penile vibratory stimulation can be done by some spinal cord injured men and their partners at home, followed by in-home insemination if circumstances and sperm quality are adequate. The other options always require assisted reproductive techniques including intrauterine insemination or in vitro fertilization with or without intracytoplasmic sperm injection. The method of choice depends largely on the number of motile sperm in the ejaculate.

Absent cervical spine pedicle and associated congenital spinal abnormalities - a diagnostic trap in a setting of acute trauma: case report

BackgroundCongenital spinal abnormalities can easily be misdiagnosed on plain radiographs. Additional imaging is warranted in doubtful cases, especially in a setting of acute trauma.Case PresentationThis patient presented at the emergency unit of our university hospital after a motor vehicle accident and was sent to our radiology department for imaging of the cervical spine. Initial clinical examination and plain radiographs of the cervical spine were performed but not conclusive. Additional CT of the neck helped establish the right diagnosis.ConclusionCT as a three-dimensional imaging modality with the possibility of multiplanar reconstructions allows for the exact diagnosis and exclusion of acute traumatic lesions of the cervical spine, especially in cases of doubtful plain radiographs and when congenital spinal abnormalities like absent cervical spine pedicle with associated spina bifida may insinuate severe trauma.

Electroejaculatory Stimulation for Male Infertility Secondary to Spinal Cord Injury: The Irish Experience in National Rehabilitation Hospital

To examine the success rate of electroejaculatory stimulation in patients with acquired spinal injuries in a single Irish institution. The use of electroejaculatory stimulation is of benefit in patients with spinal cord injury who wish to have children. A retrospective review of the Hospital In-Patient Enquiry scheme database and the patients' medical notes was performed. Any patient who had undergone electroejaculatory stimulation in the past 14 years was included. The quality of semen obtained and the pregnancy rate were assessed in relation to several variables, including patient age and level of spinal injury. From 1994 to 2008, 31 patients (29 patients with acquired spinal injury and 2 patients with a congenital spinal abnormality) had undergone electroejaculatory stimulation as a method of providing semen for assisted conception. Of the 31 patients, 6 had requested cryopreservation of their semen for future use and were therefore excluded from the pregnancy rate analysis. Of the 25 patients who had used the semen, 9 (36%) were successful in achieving pregnancy that resulted in living offspring. The semen analysis results were available for 15 patients. Three patients (one each with contaminated semen, poor semen quality, and an abandoned procedure) required testicular biopsy to extract viable sperm and subsequently achieved pregnancy. Lower spinal lesions (below T10) were associated with lower rates of pregnancy after electroejaculatory stimulation. One patient developed autonomic dysreflexia during the procedure, which was therefore abandoned. Electroejaculatory stimulation is an effective method of obtaining semen for reproductive purposes and is an option for fertility preservation in patients with spinal cord injury-related anejaculation.

Sonographic Findings in a Neonate With Diastematomyelia and a Tethered Spinal Cord

Congenital midline cutaneous paraspinal lesions, mostly located in the lumbosacral areas, are widely recognized as markers of occult spinal dysraphism. Diastematomyelia, or a split spinal cord, is an unusual congenital spinal abnormality in which the spinal cord is divided into 2 columns by a fibrous, cartilaginous, or bony septum. In most cases, lesions are located on the lower thoracic and upper lumbar parts of the spine. It often manifests in the neonatal period with midline paraspinal lesions. Sonography is a reliable tool for the study of the most severe spinal dysraphism. Diastematomyelia has been reported in neonates; however, to the best of our knowledge, the sonographic findings of diastematomyelia have rarely been described. We report a case of diastematomyelia and a tethered spinal cord in a neonate with lower back hemangioma at birth that was diagnosed via spinal sonography and was confirmed by spinal magnetic resonance imaging (MRI).

Topographic parameters of the trunkin the horizontal plane in patientswith spinal deformities

Objective. To analyze prevalence, characteristics, and peculiarities of trunk status changing in horizontal plane in patients with spinal deformities. Material and Methods. Examination of 18,500 children and adolescents for trunk deformities in the horizontal plane was performed using computer optical topography. Results. Spinal deformities were revealed in 536 (2.9 %) patients. Out of them 152 (28.4 %) patients had rotation of the shoulder girdle, 124 (23.1 %) — rotation of the pelvic girdle, and 260 (48.5 %) — torsion of the trunk. It was found that formation of the trunk rotation in the horizontal plane is caused by scoliosis in 93.3 % of cases, by kyphosis — in 5.8 %, and by congenital spinal abnormalities — in 0.8 %. Conclusion. Rotational trunk deformity is essentially influenced by the level of the curvature localization.

CLOVES syndrome with thoracic and central phlebectasia: Increased risk of pulmonary embolism

CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/scoliosis and spinal abnormalities) is a rare, complex overgrowth syndrome with serious morbidity. In this communication we studied the presence of central and thoracic phlebectasia in patients with CLOVES syndrome and its clinical implications. We conducted a comprehensive search of our databases at Children's Hospital Boston over the last 10 years (1999-2008) for patients with CLOVES syndrome and central and thoracic phlebectasia. Medical records, clinical photographs, and imaging studies of varying modalities were reviewed. Review of the clinical data and imaging studies of 12 patients with CLOVES syndrome documented the presence of central and thoracic phlebectasia in 11 patients. Two patients had serious perioperative pulmonary embolism, and 1 died. Central and thoracic phlebectasia in patients with CLOVES syndrome is common and increases the risk of pulmonary embolism. Aggressive prophylactic measures should be considered before major interventions.

Congenital Spine Deformities in Children: Epidemiological Prognosis and Management

Objective. To perform preliminary analysis of epidemiology of congenital spine deformities in children and to determine approaches to their prognosis, diagnostics and management. Material and Methods. Official statistics and literature data were analyzed, as well as authors’ experience in examination and treatment of more than 2,000 children aged 0 to 16 years having different congenital spinal abnormalities, out of which 40 % were operated on. Results. The approach to treatment of children with congenital spinal abnormalities was substantiated basing on radiological signs predicting deformity development during growth. Preventative surgical intervention in young children (1 to 5 years of age) is recommended. The recommendations are suggested on establishment of spine centers for treatment of children with spinal abnormalities in Russia.

Spinal segmental dysgenesis

Spinal segmental dysgenesis is a rare congenital spinal abnormality , seen in neonates and infants in which a segment of the spine and spinal cord fails to develop normally . The condition is segmental with normal vertebrae above and below the malformation. This condition is commonly associated with various abnormalities that affect the heart, genitourinary, gastrointestinal tract and skeletal system. We report two cases of spinal segmental dysgenesis and the associated abnormalities.

Thoracic Disc Herniation in a Patient With Tethered Cord and Lumbar Syringomyelia and Diastematomyelia

Case report. To describe the diagnostic challenges in a patient suffering from thoracic disc herniation (TDH) and spina bifida complicated by multiple lumbar spinal cord abnormalities, i.e., tethered cord, lumbar syringomyelia, and diastematomyelia. Advances in neuroimaging, i.e., magnetic resonance imaging, increase the sensitivity to disclose both clinically relevant but also other spine and spinal cord abnormalities. TDH accounts for less than 1% of all surgically treated disc herniations. Syringomyelia and diastematomyelia are comparably rare and present with varying degrees of spinal cord dysfunction. A 54-year-old women presented with progressive pain and sensorimotor symptoms in the lower back and limbs. Neurologic examination revealed lower limb spastic motor deficits and spinal ataxia. Magnetic resonance imaging revealed a T6-T7 disc herniation, with spinal cord signal change in addition to a spina bifida with sacral tethered cord, lumbar syringomyelia, and diastematomyelia. Combined neurophysiological testing identified a neurologic lesion in the mid thoracic cord, with normal lower limb nerve conduction and reflex recordings, but pathologic somatosensory-evoked potential and T6 paravertebral electromyography. The patient was diagnosed with a clinically relevant T6-T7 disc herniation and underwent successful surgical decompression resulting in electrophysiological improvements. This unique case highlights the value of electrophysiology in the evaluation of a complex spinal disorder in a patient suffering from acquired TDH in the presence of extensive congenital spine and spinal cord abnormalities. Clinical symptoms and signs can be complemented by neurophysiological techniques to improve diagnostic accuracy and improve the basis for treatment recommendations. In cases involving multiple spinal abnormalities, a comprehensive neurophysiological assessment beyond paravertebral electromyography studies, including nerve conduction and somatosensory-evoked potential recordings, is recommended to assist in confirming the diagnosis.

The faun tail and the plastic surgeon

Congenital spinal abnormalities seen with spinal dysraphism, when not recognized and treated in a timely fashion, can cause devastating neurological deficits. These anomalies are often accompanied by cutaneous markers, e.g., faun tail. Early recognition of the association of these lesions with the underlying spinal anomalies will reduce the morbidity associated with this condition. At times, the management of the cutaneous marker will be of primary importance. A review of Roman mythology surrounding the name ascribed to this clinical condition is included.

Arnold-Chiari type I malformation presenting as benign paroxysmal positional vertigo in an adult patient

Arnold-Chiari malformations are a group of congenital hindbrain and spinal cord abnormalities characterized by herniation of the contents of the posterior cranial fossa caudally through the foramen magnum into the upper cervical spine. It is important to recognize Arnold-Chiari type I malformation in the differential diagnosis of adult vertigo cases. We present a 51-year-old patient with Arnold-Chiari type I malformation that was initially diagnosed as posterior semicircular canal benign paroxysmal positional vertigo.

Current Classification and Imaging of Congenital Spinal Abnormalities

Current Classification and Imaging of Congenital Spinal Abnormalities