Congenital Spinal Deformity Research Articles

Successful heart–lung transplantation in a patient with kyphoscoliosis

The association is well established between congenital heart disease and spinal deformities such as scoliosis or kyphosis, but data are not available for risks and the outcome of heart surgery in patients with spinal deformities. We report a case of successful orthotopic heart lung transplantation in a patient with complex congenital heart disease and severe chest deformity who had undergone previous spinal fusion surgery for progressive right convex thoracic kyphoscoliosis.

Congenital spinal deformity: a comprehensive assessment at presentation.

A series of 126 consecutive patients with congenital spinal deformity is presented. To assess the incidence of intraspinal anomaly and other organic defects associated with different types of spine deformity at presentation. A high incidence of intraspinal abnormalities and other organ defects is reported in relation to congenital spine deformity. The prevalence of these problems with different types of deformities is to be determined. All patients had MRI, echocardiography, renal ultrasound, and a thorough clinical assessment. Intraspinal abnormalities were found in 47 patients (37%). These abnormalities were significantly more common in patients with congenital kyphosis ( = 0.0048), and in those with scoliosis resulting from mixed and segmentation defects. Scoliosis patients with cervical and thoracic hemivertebrae had significantly more intraspinal abnormalities ( = 0.0253) than those with lumbar hemivertebrae. In 64 (55%) patients other organic defects were found. These defects were more common in patients with congenital scoliosis resulting from mixed defects ( = 0.002). Cardiac defects were detected in 26% and urogenital anomalies in 21% of the patients. Magnetic resonance imaging and echocardiography should be an essential part in the evaluation of patients with congenital spinal deformity, and special attention should be paid to patients with segmentation abnormalities, mixed defects, and kyphosis.

Levels of Soluble Adhesion Molecules Are Elevated in the Cerebrospinal Fluid of Children with Moyamoya Syndrome

The pathogenesis of moyamoya syndrome is unknown; however, previous studies suggested an inflammatory component. Because adhesion molecules mediate inflammation during cerebral ischemia, we measured the levels of soluble isoforms of the endothelial adhesion molecules vascular cell adhesion molecule Type 1, intercellular adhesion molecule Type 1, and E-selectin in serum and cerebrospinal fluid (CSF) samples from children with moyamoya syndrome. Serum and CSF samples were obtained from children with moyamoya syndrome (n = 20) and patients with congenital spinal deformities (n = 20). Soluble vascular cell adhesion molecule Type 1, intercellular adhesion molecule Type 1, and E-selectin levels were measured in enzyme-linked immunoassays. The correlation between the levels of soluble adhesion molecules and the Suzuki angiographic classification was analyzed. CSF/serum albumin index values were also measured, to determine the integrity of the blood-brain barrier. Compared with the control group, children with moyamoya syndrome exhibited significantly elevated CSF levels of soluble vascular cell adhesion molecule Type 1, intercellular adhesion molecule Type 1, and E-selectin. The albumin index for the moyamoya group was 9, which was significantly higher than that for the control group. However, there were no differences in the serum levels of the three soluble adhesion molecules and no correlations between age, Suzuki classification, and serum and CSF levels of adhesion molecules. Our study demonstrates increased CSF levels of soluble endothelial adhesion molecules, suggesting that children with moyamoya syndrome have ongoing central nervous system inflammation, with slight impairment of the blood-brain barrier. These soluble adhesion molecules may be clinically useful as indicators of this inflammatory process and may provide some insight into this enigmatic disease process.

Spinal Deformities in Noonan Syndrome

Skeletal abnormalities, including spinal deformities, in Noonan syndrome have been described, but no detailed and systematic study of such spinal deformities has been presented in the literature. The cases of sixty patients with Noonan syndrome were reviewed retrospectively, and the general appearance, growth disturbance, and mental status of the patients were documented. Spinal deformities were evaluated radiographically, and the frequency, pattern, and severity of the curves were documented. Spinal deformity was present in eighteen (30%) of the sixty patients. Two patients had congenital spinal deformity. Of the remaining sixteen patients with scoliosis, nine had a single thoracic curve, four had a single thoracolumbar curve, and three had a double major curve. Thoracic lordosis was also present in three of these sixteen patients. No patient had only increased kyphosis or lordosis. The mean age when the spinal deformities were detected was nine years; seven deformities were detected before the age of seven years. Overall, surgery was recommended to eleven of the eighteen patients; it was recommended for the treatment of scoliosis (mean, 68.5 degrees; range, 45 degrees to 125 degrees ) in eight patients and for the treatment of an associated thoracic lordosis (8 degrees, 15 degrees, and 18 degrees ) in three. Seven of the eleven patients underwent spinal arthrodesis. The operation was deferred in one patient because malignant hyperthermia developed during the induction of anesthesia. Scoliosis with an associated thoracic lordosis occurs more frequently in Noonan syndrome than has been reported previously. Since the deformities tend to develop early and are relatively severe, a clinical and, if necessary, radiographic assessment of the spine with careful follow-up should be performed for early detection and treatment of spinal deformity. Although malignant hyperthermia is rare, all patients with Noonan syndrome should be considered to be at risk for the development of this complication before operative treatment.

Evaluating Congenital Spine Deformities for Intraspinal Anomalies With Magnetic Resonance Imaging

The incidence of intraspinal abnormalities associated with congenital spinal anomalies as detected by magnetic resonance imaging (MRI) is becoming better defined. In this study, 41 nonrandomized children with congenital spinal deformities (excluding myelomeningocele) who underwent complete MR evaluation were reviewed. Of the 41 congenital spinal deformities, 37 demonstrated congenital scoliosis, with failure of formation in 19, failure of segmentation in 4, and mixed defects in 14. The remaining four deformities were cases of congenital kyphosis. Thirteen patients with congenital spine anomalies were noted to have intraspinal abnormalities identified by MRI: tethered cord in 12 patients, syringomyelia in 3 patients, and diastematomyelia in 5 patients. Of the 12 patients with tethered cord, 2 patients had neurologic deficits. Urorectal anomaly was one of the most common associated findings (15%). Considering an incidence of intraspinal anomalies of 31% and as clinical manifestations may not be initially detectable, MRI is recommended in patients with congenital spinal deformity as part of the initial evaluation even in the absence of clinical findings.

Evaluating congenital spine deformities for intraspinal anomalies with magnetic resonance imaging.

The incidence of intraspinal abnormalities associated with congenital spinal anomalies as detected by magnetic resonance imaging (MRI) is becoming better defined. In this study, 41 nonrandomized children with congenital spinal deformities (excluding myelomeningocele) who underwent complete MR evaluation were reviewed. Of the 41 congenital spinal deformities, 37 demonstrated congenital scoliosis, with failure of formation in 19, failure of segmentation in 4, and mixed defects in 14. The remaining four deformities were cases of congenital kyphosis. Thirteen patients with congenital spine anomalies were noted to have intraspinal abnormalities identified by MRI: tethered cord in 12 patients, syringomyelia in 3 patients, and diastematomyelia in 5 patients. Of the 12 patients with tethered cord, 2 patients had neurologic deficits. Urorectal anomaly was one of the most common associated findings (15%). Considering an incidence of intraspinal anomalies of 31% and as clinical manifestations may not be initially detectable, MRI is recommended in patients with congenital spinal deformity as part of the initial evaluation even in the absence of clinical findings.

From the Clinic…

Diastematomyelia, when examination of the skin predicts spinal deformity (Fig. 1a) (Fig. 1b) 1 Winter R.D. Haven J.J. Moe J.H. Legaard S.M. Diastematomyelia and congenital spine deformities. J Bone Joint Surg. 1974; 56A: 27-39 Google Scholar , 2 Freeman L.W. Late symptoms from diastematomyelia. J Neurosurg. 1961; 18: 538-541 Crossref PubMed Scopus (30) Google Scholar Fig. 1(a) This 59-year-old woman complained of increasing back pain over a 2-year period, with diminishing tolerance of weight-bearing activity. She had had weakness in one leg since childhood, which she thought was the result of a congenital foot deformity. Her neurologic functions had not deteriorated. Clinical examination of her lower back revealed scoliosis and a well-developed hair patch. (b) Computed tomography of her lumbar spine showed scoliosis and partitioning of the vertebral canal by a well-ossified septum. Her back pain and standing tolerance were improved by wearing an orthosis. Over the past year, her neurologic functions have remained stable, and she has not requested further treatment View Large Image Figure Viewer

The Induction of Congenital Spinal Deformities in Mice by Maternal Carbon Monoxide Exposure

The Induction of Congenital Spinal Deformities in Mice by Maternal Carbon Monoxide Exposure

Occult Intraspinal Anomalies in Congenital Scoliosis

Thirty consecutive patients with congenital spinal deformity underwent magnetic resonance imaging (MRI) to determine the incidence of occult intraspinal anomaly. These congenital spinal deformities included 29 cases of congenital scoliosis and one case of congenital kyphosis. Physical examination findings and plain radiographs were reviewed in an attempt to correlate these findings with subsequent intraspinal pathology. Nine patients had intraspinal anomalies identified on MRI consisting of five with tethered cord, four with syringomyelia, three with lipoma, and one with diastematomyelia. One patient required surgery for diastematomyelia; another underwent release of his tethered cord. Only one patient, with diastematomyelia associated with a syrinx and bifocal tethering, had his anomaly suggested by physical examination and plain radiographs. Two other patients had findings on plain radiographs previously associated with high prevalence of occult intraspinal anomalies; one patient with congenital kyphosis had a tethered cord, and one patient with a unilateral hemivertebrae associated with a contralateral bar had a tethered cord. Two of nine patients with occult intraspinal anomalies required surgery for their anomaly. In patients with a congenital spinal deformity, we found nine (30%) of 30 to have an associated anomaly within the spinal canal. Only three of these nine had plain radiographs and physical examination findings suggestive of their subsequent MRI findings. Given the poor correlation between findings on physical examination, plain radiographs, and subsequent occult intraspinal anomalies on MRI, we believe that MRI is helpful in evaluating patients with congenital spinal anomalies.

Spinal fusion in patients with congenital heart disease. Predictors of outcome.

The strong association between congenital heart disease and spinal deformity is well established, but data on the risks and outcome of spinal fusion surgery in patients with congenital heart disease are scarce. The purpose of this study was to identify predictors of perioperative risk and outcome in a large series of children and adolescents with congenital heart disease who underwent spinal fusion for scoliosis or kyphosis. In the authors' retrospective analysis of 74 consecutive patients with congenital heart disease undergoing spinal fusion, there were two deaths (2.7%) and 18 significant complications (24.3%) in the perioperative period. Preoperative cyanosis (arterial oxygen saturation < 90% at rest) with uncorrected or incompletely corrected congenital heart disease was associated with both deaths. Complications occurred in nine of 18 (50%) patients with cyanosis and in 11 of 56 (20%) patients without cyanosis. As judged by multivariate analysis the best predictors of perioperative outcome were the overall physical status of the patient as represented by the American Society of Anesthesiologists' preoperative score and a higher rate of intraoperative blood loss. Seventeen of 43 patients (40%) with an American Society of Anesthesiologists score of 3 or higher experienced complications including two perioperative deaths. Successful spinal fusion and correction were achieved in 97% of patients. Children and adolescents with congenital heart disease can undergo elective spinal fusion with risks that relate to overall cardiac status. Careful assessment of preoperative status by pediatric cardiologists and cardiac anesthesiologists familiar with surgical treatment of patients with congenital heart disease will assist the orthopaedic surgeon in providing the most realistic estimate of risk.

Prevalence of Scoliosis in (3-Thalassemia

The objective of this study was to determine the prevalence and possible pathogenesis of scoliosis in beta-thalassemia in our country, and to compare its characteristics to those of patients with idiopathic scoliosis from the same geographic area. Twenty-four [13 male and 11 female thalassemic patients aged 16 +/- 7 years (range 7-32 years)] of 115 examined patients with beta-thalassemia showed scoliosis of 14 degrees +/- 11 (range 10-65 degrees) radiologically. The prevalence of scoliosis in the thalassemic population was 21% in this series, whereas the overall prevalence of scoliosis in the general Greek population was 6% (Smyrnis PN, Valavanis J, Alexopoulos A, Siderakis G, Giannestras NJ: School screening for scoliosis in Athens, J Bone Joint Surg 61B:215-217, 1979). The scoliosis prevalence in the general population was significantly higher in the females (5%) than in the males (1%), whereas no difference in prevalence was found between the two sexes in the thalassemic population. The most common curve pattern in thalassemia was the left lumbar (38%) followed by the right lumbar (21%), whereas in patients with idiopathic scoliosis the left thoracolumbar most commonly appeared (25%) followed by the left lumbar (14%). No patient with thalassemia showed radiographic signs of congenital spinal deformities and spinal fractures, whereas all patients showed a significant retardation of their skeletal maturation. The age of the thalassemic patients with scoliosis was significantly (p = 0.0003) higher than in patients without scoliosis. The hematocrit of the thalassemic patients with scoliosis was significantly (p = 0.0012) lower than in those without scoliosis, whereas the rate of transfusions was not correlated with the magnitude of the scoliosis. The level of ferritin was significantly (p = 0.025) higher in the thalassemic patients with scoliosis than in those without scoliosis. The duration of Desferal treatment was significantly (p = 0.0357) longer in thalassemic patients with scoliosis when compared with those without scoliosis. Thus, the prevalence, curve pattern, and etiology of scoliosis in beta-thalassemia differ from those of idiopathic scoliosis, indicating that the spinal deformities in thalassemia represent a distinct type of scoliosis.

Instructional Course Lectures, The American Academy of Orthopaedic Surgeons - Congenital Spinal Deformity*†

Congenital spinal deformities, which are caused by congenitally anomalous vertebral development, usually are seen on conventional radiographs but may be detected on tomograms, on magnetic resonance images, or at the time of an operation. Although patients who have myelomeningocele have congenitally anomalous vertebrae, most of the spinal deformity in such patients is paralytic in nature; therefore, they will not be included in the present discussion. The three major patterns of congenital spinal deformity are lordosis, kyphosis, and scoliosis. Although combinations such as lordoscoliosis and kyphoscoliosis are common, the natural history and methods of treatment of spinal deformity correspond to the three major subdivisions. It is important to distinguish between scoliosis with marked rotation (which should not be labeled kyphoscoliosis) and true kyphoscoliosis (in which rotation is not a major component of the deformity). Congenital spinal anomalies are divided into two basic groups: defects of formation and defects of segmentation. A classic example of a defect of formation is a hemivertebra that has a mobile disc both caudad and cephalad to it (a so-called free hemivertebra). A classic example of a defect of segmentation is a unilateral unsegmented bar, in which one side of the spine has failed to segment over the length of several vertebrae while the other side has segmented normally. The cause of congenital spinal deformities usually is unknown. Embryologically, spinal anomalies must develop between the fifth and eighth weeks of gestation; however, even a detailed maternal history seldom reveals that any untoward events occurred during that time. Most patients have mixed anomalies in which both types of defects are present. The most important step in the evaluation of these patients is to estimate whether the spine is balanced and will remain balanced during growth; the greater the potential growth discrepancy between the two sides, the greater the …

Musculoskeletal involvement in children with gastroschisis and omphalocele

A review of 58 children with gastroschisis and 8 children with omphalocele showed 14 musculoskeletal problems in 11 children. These problems consisted of limb deformities in 6 children, spinal deformities in 4 children, and osteopenia in 3 children, with 1 of the osteopenic children developing pathological fractures. About one third ( 5 14 ) of the problems were arthrogrypotic in nature. The remainder were mild digital deformities, developmental or spondylodysplastic scolioses, and, rarely, congenital spinal deformities.

Advances in pediatric orthopaedics

New technology is fueling advances in pediatric orthopaedics. Ultrasonography represents a safe and highly accurate method of screening for hip dislocation and dysplasia that is superior to the clinical examination. Image intensification now provides a safe and more anatomically accurate method for the operative treatment of slipped capital femoral epiphysis. Magnetic resonance imaging allows for greater accuracy in the diagnosis of subtle neural abnormalities associated with congenital spinal deformities. Adjuvant chemotherapy and the treatment of osteogenic sarcoma have greatly improved the survival rate and permitted the use of limb-sparing procedures in children.

“Mirror Image” Congenital Scoliosis in Siblings

Congenital scoliosis, which is caused by isolated anomalies (as opposed to multiple spinal anomalies and myelomeningocoele), is usually a nonfamilial condition. In rare instances, however, a congenital spine deformity is genetically determined. We herein report a brother and sister with a nearly identical "mirror image" congenital lumbar scoliosis. We conclude that the presence of a congenital spine deformity necessitates the screening of other siblings for a similar anomaly.

Intraspinal Abnormalities and Congenital Spine Deformities

Forty-two patients with congenital spinal deformity were studied by magnetic resonance imaging (MRI). Sixteen patients had intraspinal abnormalities consisting of a tethered cord in 10, diastematomyelia in four, diplomyelia in three, syringomyelia in four, a low lying conus in three, and a teratoma of the sacrum in one patient. In seven patients, intraspinal anomalies were suspected based on routine spinal radiographs and physical findings. We recommend MRI in patients undergoing spinal stabilization procedures and in all patients with lumbosacral kyphosis and those with pain, neurologic findings, or cutaneous hairy patch.

Congenital spine deformity: "What's the latest and what's the best"?

CONGENITAL SPINE DEFORMITIES differ greatly from the more common idiopathic and neuromuscular curvatures. There is a major problem of associated anomalies, both in the neurospinal axis as well as outside it. Some children have a very major curve at a very young age, have a progressive deformity, and have a rigid type of curve that cannot be controlled by an orthosis. Other children have a mild deformity with an ominous anomaly, and yet with no treatment at all have an excellent end result. This review will thus center around our center state of knowledge about the natural history and the benefits of current methods of treatment

Congenital spinal deformities

Congenital spinal deformities

Changes in vertebral end plates in congenital spine deformities.

The authors investigated morphologically material from 30 patients with congenital spine deformities operated on at the 2nd Orthopaedic University Department in Brno, and the spines of two patients who underwent a spinal operation and later died from other causes, and also the spines of young, healthy road accident victims. In the course of operations for congenital deformities of the spine representative tissue samples were taken (hemivertebrae, quarter vertebrae, etc.), along with the adjacent parts of intervertebral disks. The authors concentrated mainly on the growth defects of deformed vertebrae and microscopic changes in the adjacent cartilage plates. In this way light was thrown on some questions of both defects of formation and defects of segmentation of the mesenchymal base of the spine. The defects of ossification and growth disorders observed are, in the authors' opinion, an important component in the occurrence of congenital deformities and idiopathic scolioses and have a major effect on their progression.

Exposure of the anterior spine: Technique, complications, and results in 85 patients

The anterior approach to the spine is necessary for correction of some congenital spinal deformities and other conditions, including spinal trauma, infection, and tumor. The morbidity associated with this procedure has not been extensively reviewed in the literature. Between 1981 and 1986, 85 patients (41 male and 44 female) aged 1 to 77 years underwent anterior spinal fusion by an orthopedic or general surgery team (33 pediatric patients and 52 adult patients). Thirty-four patients had scoliosis, 8 had kyphosis, 24 had spinal trauma, 9 had tumor, and 10 had infection. Fifteen patients had restrictive lung disease diagnosed by pulmonary function testing (10 children and 5 adults). The thoracoabdominal approach was used in 50 patients, thoracotomy in 22 patients, and the lumbar approach in 10 patients. Two incisions were used in three patients. Correction was accomplished by interbody fusion in 36 patients (17 with instrumentation) and strut graft in 49 patients (6 with instrumentation). Twelve strut grafts were vascularized ribs and 37 were free ribs. Eighty-two patients survived (96 percent). Seventy-four complications occurring in 50 patients all resolved prior to discharge. These included 28 pulmonary complications, 27 urinary complications, and 5 gastrointestinal complications. Three patients required prolonged mechanical ventilation. Solid fusion was seen in 78 of 85 patients, whereas pseudoarthrosis developed in 7.