Unusual orthopedic manifestations of neurofibromatosis.

Forty-four children with neurofibromatosis were found to have three previously underdescribed conditions: thoracic lordoscoliosis, protrusio acetabuli, and monomelia neurofibromatosis. Thirty-four patients (77%) had scoliosis; of these, nine had dystrophic scoliosis (Group I, 26%), six had dystrophic lordoscoliosis (Group II, 18%), eight had dystrophic kyphoscoliosis (Group III, 24%), and 11 had nondystrophic scoliosis (Group IV, 32%). Group III curves were severe and progressive, rendering them difficult to stabilize even with anterior and posterior spinal fusions. Group II curves were progressive but stabilized by posterior spinal fusion alone. Group I curves were less progressive than Groups II and III, but required surgery more often than those of Group IV, which were generally controlled by orthoses. Protrusio acetabuli of varying severity occurred in 13 patients (21 hips). Three patients had involvement of a single limb (monomelic neurofibromatosis).     

The incidence of protrusio acetabuli in Marfan's syndrome and its relationship to bone mineral density

Twenty-one patients with Marfan's syndrome participated in a study to assess the incidence of and radiographic measurements significant for protrusio acetabuli. Our data show that the incidence of protrusio acetabuli in Marfan's syndrome is 31%. The most sensitive radiographic parameter to determine protrusio acetabuli is crossing of the acetabular line by the iliopectineal line. The presence of protrusio in Marfan's syndrome was not related to the bone mineral content of the hip and pelvis. Protrusio acetabuli in Marfan syndrome's also did not correlate with clinical symptoms. Based on our results, the presence of protrusio acetabuli alone is not an indication for early surgical intervention.     

Spinal and pelvic parameters in Marfan's syndrome and their relevance to surgical planning

Spinal deformities are a common feature of Marfan's syndrome and can be a significant cause of morbidity. The morphology of the scoliosis associated with this condition was previously described by Sponseller, but no correlation with the pelvic parameters has been seen. We performed a retrospective radiological study of 58 patients with scoliosis, secondary to Marfan's syndrome and related the findings in the thoracolumbar spine to the pelvic parameters, including pelvic version (tilt), pelvic incidence and sacral slope. Our results showed marked abnormalities in the pelvic values compared with those found in the unaffected population, with increased retroversion of the pelvis in particular. In addition we found a close correlation between the different patterns of pelvic parameters and scoliosis morphology. We found that pelvic abnormalities may partially dictate the spinal disorders seen in Marfan's syndrome. Our results supplement the well-established Sponseller classification, as well as stressing the importance of considering the orientation of the pelvis when planning surgery.     

Chest wall deformities

BACKGROUND: Pectus deformities and atypical costal anomalies are congenital thoracic wall defects that can cause a marked cosmetic defect with attendant psychological trauma and limited physical performance. PATIENTS AND METHODS: We reviewed 43 patients with chest wall deformities, 24 (55.8%) were pectus excavatum, 13 (30.2%) pectus carinatum and 6 (14%) atypical costal anomalies, in the last sixteen years. There were nine female and 34 (79.1%) male patients. The mean age of the patients was 14.4 years (range, 5 to 23). Scoliosis (13.5%), Poland's syndrome (5.4%), Marfan's syndrome (5.4%), neurofibromatosis (2.7%), atrial septal defect (2.7%) and mitral valve prolapse (13.5%) were associated with pectus deformities. The modified Ravitch's technique was used in pectus cases. Concomitant surgery was performed in two patients with pectus carinatum. RESULTS: The complications of pectus deformity repair were pneumothorax (24.3%), wound infection (8.1%), and local tissue necrosis (2.7%). There was no major recurrence, while minor recurrence rate was 10.8%. There was no mortality. CONCLUSION: Timely surgical procedures for the treatment of pectus deformities result in an excellent cosmetic outcome and improve cardiorespiratory function, providing both physical and psychological benefits.     

Spine deformity in familial dysautonomia (Riley-Day syndrome)

Familial dysautonomia spanning a 30-year period reviewed retrospectively. The 16 patients identified included nine with spine deformities. Serious general medical problems were common. Spine deformities included kyphosis, scoliosis, or a combination of both. Brace treatment was attempted and was unsuccessful in three patients. Seven underwent surgical stabilization. Although all seven patients tolerated the surgical procedures, at least one postoperative complication was noted in each case. Follow-up ranged from 1 1/2 to 16 1/2 years. We recommend close observation of the deformities, early stabilization when disorders are progressive, and a high level of awareness of potential complications.     

Growth and progression of adolescent idiopathic scoliosis in girls

The progression velocity of scoliosis was studied for 535 consecutive girls with untreated adolescent idiopathic scoliosis. At the first visit the mean age of the patients was 13.9 years (range 9-19 years), the mean magnitude of the major curves was 23.4 degrees (range 5-60 degrees), and that of the minor curves 16.4 degrees (range 0-49 degrees). The median follow-up time was 1.1 years (mean 1.4, range 0.5-6.3 years). The right thoracic curves were most progressive. In the major left thoracic and left lumbar curve types, initial minor curves progressed faster than major curves. The scoliosis progressed faster in patients with minor thoracic kyphosis. In these patients major right thoracic curves were more common. The progression of scoliosis was clearly dependent on the growth velocity, also, the greater the curve at the first visit, the greater was the progression. The progression was most notable with a growth velocity of >or=2 cm/year, at ages between 9 and 13 years, bone ages between 9 and 14 years, Risser signs 0-1, and between 0.5-2 years before menarche.     

Osteogenesis imperfecta. Radiographic classification, natural history, and treatment of spinal deformities.

The natural history of the radiographic changes associated with osteogenesis imperfecta was recorded for sixty-four patients. Detailed clinical data regarding spinal deformities were available for forty-three patients. The patients could be placed in six well defined groups on the basis of a cluster of radiographic changes. The radiographic criteria used to classify patients who had osteogenesis imperfecta included the shape, dimensions, and appearance of the long bones; the presence of a trefoil pelvis and protrusio acetabuli; and the shape of the vertebrae. Patients can be classified more accurately if the dynamic nature of the radiographic changes is appreciated. Patients who had Type-A disease, a mild form of osteogenesis imperfecta, maintained the contours of the vertebrae. Most had straight long bones except for five patients who had mild bowing. Patients who had Type-B disease had bowed long bones with wide cortices. The pelvis had a normal contour. The vertebral bodies were biconcave, and kyphosis and scoliosis developed. Patients who had Type-C disease had thin, bowed long bones, and protrusio acetabuli developed around the age of ten years. Patients who had Type-D disease had the same findings as those who had Type-C disease, with the additional finding of cystic changes around the knee by the age of five years. The physes closed early, and the cysts disappeared around the age of fifteen. Patients who had Type-C or D disease had development of severe spinal deformities. Patients who had Type-E disease were totally dependent functionally, and spinal deformities developed at a very early age. The long bones appeared to have no cortex. Patients who had Type-F disease had complete disruption of the ribs, which was incompatible with survival. The natural history of scoliosis in the patients who had Type-B, C, D, or E disease was one of progression of the curve. Bracing used in the treatment of scoliosis in one patient who had Type-E disease and five patients who had Type-C disease was unsuccessful. Arthrodesis of the spine prevented progression of the spinal deformities in patients who had Type-A disease, but the results of the operation were variable in the remaining types of the disease.     

Spinal arthrodesis for scoliosis in Down syndrome

The results of operative treatment of scoliosis in Down syndrome at one institution are reviewed. Seven patients with progressive scoliosis who had undergone arthrodesis of the thoracolumbar spine were identified. Clinical and radiographic results were noted, as were any complications. Mean patient follow up was 9 years (range 2-25). All patients eventually showed radiographic evidence of solid fusion with no curve progression. One patient had undergone a revision procedure for pseudoarthrosis and failure of Dwyer instrumentation. Other complications included a lateral subluxation under the fusion area, pneumonia, and one asymptomatic hook dislodgment. Progressive deformities of the thoracolumbar spine in Down syndrome patients can be treated with fusion and instrumentation with cessation of progression. As is the case for upper cervical fusion in these patients, the complication rate is notable.     

Vertebral deformities and scoliosis

Scoliosis, especially idiopathic scoliosis, is a complex three-dimensional deformity of the spine in which the vertebral deformities are known, cuneal deformation being the most commonly known deformity but not the only one. We report here data concerning these specific vertebral deformities in chickens. A pinealectomy was performed in a controlled series of animal experiments. This technique induces progressive scoliosis in more than 80% of chickens, with the advantage of being non-aggressive to the spine. Vertebrae included in major thoracolumbar curves were observed in 17 chickens (11 male, 6 female) and classified into three types of vertebral deformities. Vertebral deformity type 1 is characterized by three-dimensional corporeal torsion, which defines the horizontal disorientation of the curve. Vertebral deformities type 2 and 3 define lateral imbalance in the election plane of the curve. Radiological and anatomical data collected throughout the progression of the scoliosis indicate that there is a correlation between structural vertebral deformities and growth/ maturation patterns. We compare our results with those reported in literature concerning human idiopathic scoliosis and experimental animal scoliosis.     

Orthopedic aspects of Rett syndrome: a multicenter review

Twenty-three of 36 patients (64%) with Rett syndrome showed orthopedic problems at an average age of 8 years 7 months. Sixteen patients had spinal deformities (45%), six had scoliosis, one had sagittal deformity, and nine had scoliosis with sagittal deformity. Eight patients with scoliosis have shown progression, with two patients requiring surgery. Thirteen patients (36%) exhibited joint contractures; three of them have required surgery. Ten fractures occurred in five patients (14%). Coxa valga was present in all 14 hips. Skeletal ages in four preadolescent patients were normal.     

Spine fusion in cerebral palsy with L-rod segmental spinal instrumentation. A comparison of single and two-stage combined approach with Zielke instrumentation

The benefits of achieving rigid internal fixation and eliminating the need for postoperative external orthotic support with L-rod spinal instrumentation made it desirable for use in the surgical treatment of neuromuscular scoliosis. From May 1981 to May 1985, 31 severely involved cerebral palsy patients with progressive spinal deformity underwent posterior fusion and L-rod instrumentation. All patients except one were nonambulatory. Surgical indications included prevention of curve progression, correction of pelvic obliquity, and achievement of balanced spinal alignment in order to improve sitting balance and tolerance without external spinal orthotic support. Ten patients (Group I), with an average age of 15.2 years, with double major or flexible paralytic C-curves or scoliosis measuring less than 70 degrees, underwent posterior fusion and L-rod instrumentation only. Twenty-one patients (Group II), with an average age of 22.1 years, with thoracolumbar, lumbar, or rigid paralytic C-curves or scoliosis measuring greater than 70 degrees, underwent initial anterior release, bone grafting, and Zielke instrumentation followed by second-stage L-rod instrumentation. In Group I, scoliosis averaged 57 degrees and postoperatively 27 degrees (53% correction). In Group II, scoliosis averaged 88 degrees and postoperatively 36 degrees (63% correction). Fifteen Group II patients had posterior fusion extend into the sacrum using the Galveston technique. Six Group II patients were not fused into the sacrum. Scoliosis and pelvic obliquity were corrected in both groups. Torso decompensation improved to 2.7 cm in the Galveston group, but increased to 5.6 cm at follow-up in the patients not fused into the sacrum.(ABSTRACT TRUNCATED AT 250 WORDS)     

Spinal deformities in Noonan syndrome: a clinical review of sixty cases.

BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.     

The variability of response of scoliotic spines to segmental spinal instrumentation.

Ninety-two patients (71 idiopathic, 15 neurogenic, 2 Marfan's syndrome, 1 Down's syndrome, 1 osteogenesis imperfecta, 1 Prader-Willi syndrome, 1 Klippel-Trenaunay-Weber syndrome), ages 9-49 years, had posterior spine fusion and stabilization with Luque L-rods and sublaminar segmental wires (SSI) for progressive scoliosis. There were no neurologic complications. The average preoperative major curve of 52 degrees (37-113 degrees) initially corrected to 30 degrees (6-94 degrees), and at last follow-up (range, 2-7 years), was 33 degrees (8-90 degrees). There was marked variability in curvature correction and maintenance of correction, with 14 patients progressively decreasing their curvatures postoperatively. Average preoperative Pedriolle vertebral rotation angle for all 92 patients was 16 degrees (4-26 degrees), which initially corrected to 14 degrees (0-24 degrees), and at last follow-up remained 14 degrees (0-23 degrees). Although SSI had little influence on rotation, 12 patients progressively decreased their rotational deformity after operation. Aside from the positive influence of curve flexibility on the degree of postoperative curve correction, the authors could not identify factors explaining how curvature and vertebral rotation responded so variably to SSI. The authors recommend continued use of SSI to stabilize curvatures in osteopenic patients (particularly those with neuromuscular disease), but rotational deformity will probably persist.     

Scoliosis in children with anterior chest wall deformities

An association between anterior chest wall deformities and scoliosis is described in the literature but is poorly defined. It appears that only approximately 4% to 5% of patients with severe anterior chest wall deformities have scoliosis of sufficient magnitude to warrant evaluation and observation by a spinal deformity physician. The relationship between anterior chest wall deformity and scoliosis is most clear in patients with Marfan syndrome. Marfan patients with scoliosis are at high risk for progression of deformity to unacceptable levels and have historically not responded well to brace therapy. The causes of anterior chest wall deformity and scoliosis remain unclear, although unbalanced cartilage growth has been proposed as a potential cause of both. Some have proposed that chest wall deformity may result in asymmetric spinal forces and subsequent scoliosis secondary to altered spinal growth. Because of the association between pectus deformities and scoliosis, patients with anterior chest wall deformities should be carefully examined for signs of scoliosis and have screening radiographs if indicated. Young patients in particular should be referred to a spinal deformity physician, because it is clear that patients who present with spinal deformity prior to age 5 years are the ones at risk for adverse cardiopulmonary sequelae related to spinal deformity. Most children with scoliosis and anterior chest wall deformities need only observation of the scoliosis. In more severe cases, the management of spinal deformity traditionally involves the use of bracing to attempt to control curves of lesser magnitude and surgical management for unacceptable deformities or curves of magnitudes too great for brace treatment. There are no studies that specifically address the use of these methods in patients with both anterior chest wall deformities and scoliosis. The management of scoliosis in patients with anterior chest wall deformities follows treatment principles outlined for idiopathic scoliosis patients.     

Intraspinal anomalies in scoliosis: An MRI analysis of 177 consecutive scoliosis patients

Background:

The association of intraspinal neural anomalies with scoliosis is known for more than six decades. However, there are no studies documenting the incidence of association of intraspinal anomalies in scoliotic patients in the Indian population. The guide lines to obtain an magnetic resonance imaging (MRI) scan to rule out neuro-axial abnormalities in presumed adolescent idiopathic scoliosis are also not clear. We conducted a prospective study (a) to document and analyze the incidence and types of intraspinal anomalies in different types of scoliosis in Indian patients. (b) to identify clinico-radiological ‘indicators’ that best predict the findings of neuro-axial abnormalities in patients with presumed adolescent idiopathic scoliosis, which will alert the physician to the possible presence of intraspinal anomalies and optimize the use of MRI in this sub group of patients.

Materials and Methods:

The data from 177 consecutive scoliotic patients aged less than 21 years were analyzed. Patients were categorized into three groups; Group A - congenital scoliosis (n=60), group B -presumed idiopathic scoliosis (n=94) and group C - scoliosis secondary to neurofibromatosis, neuromuscular and connective tissue disorders (n=23). The presence and type of anomaly in the MRI was correlated to patient symptoms, clinical signs and curve characteristics.

Results:

The incidence of intraspinal anomalies in congenital scoliosis was 35% (21/60), with tethered cord due to filum terminale being the commonest anomaly (10/21). Patients with multiple vertebral anomalies had the highest incidence (48%) of neural anomalies and isolated hemi vertebrae had none. In presumed ‘idiopathic’ scoliosis patients the incidence was higher (16%) than previously reported. Arnold Chiari-I malformation (AC-I) with syringomyelia was the most common neural anomaly (9/15) and the incidence was higher in the presence of neurological findings (100%), apical kyphosis (66.6%) and early onset scoliosis. Isolated lumbar curves had no anomalies. In group-C, incidence was 22% and most of the anomalies were in curves with connective tissue disorders.

Conclusion:

The high incidence of intraspinal anomalies in presumed idiopathic scoliosis in our study group emphasizes the need for detailed examination for subtle neurological signs that accompany neuro-axial anomalies. Preoperative MRI screening is recommended in patients with presumed ‘idiopathic’ scoliosis who present at young age, with neurological findings and in curves with apical thoracic kyphosis.     

Mechanisms of curve progression following sublaminar (Luque) spinal instrumentation.

Fifty-two patients with Luque instrumentation were reviewed for spinal deformities. Forty-two patients were reviewed during 1 year (longest 7.2 years) at follow-up. Two patients were included who lost correction within 1 year (both 8 months). Follow up averaged 2.9 years. Curve causes primarily were neuromuscular but included one was caused by idiopathic scoliosis, four by Scheuermann's disease, and 1 by post-laminectomy kyphosis. The Cobb angle progressed in 45% of patients postoperatively. Factors contributing to progression included progressive vertebral rotation or the crankshaft phenomenon (11), wire pull out (7), progressive pelvic obliquity (4), rod bending (3), pseudarthrosis (2), and rod migration (2). Factors correlating with progression were kyphosis, postoperative curve greater than 35 degrees, preoperative curve greater than 60 degrees, and not fusing to the pelvis in nonambulators. Crankshaft was common in patients Risser II or less but did not occur in more mature patients.     

Orthopedic problems in Lesch-Nyhan syndrome.

Lesch-Nyhan syndrome is an X-linked disorder of purine metabolism. The orthopedic problems and results of treatment of nine Lesch-Nyhan patients are reviewed. Associated orthopedic problems included hip subluxation or dislocation (nine of 18 hips), fractures (three), autoamputation, infections (three), minor scoliosis, and contractures. Lesch-Nyhan patients can safely undergo orthopedic procedures and the results of surgery are satisfactory and similar to those of patients with spastic cerebral palsy. All of the seven operated-on hips maintained good reduction at 6-year mean follow-up. With adequate cast technique, fractures and hip subluxation/dislocation may be treated successfully. The treating orthopedist should be aware of the increased incidence of heterotopic ossification in this population, as well as the potential for serious complications such as hardware failure or femur fracture, if appropriate immobilization is not used.     

Progressive scoliosis in central core disease

Central core disease (CCD) is a rare congenital myopathy with autosomal dominant inheritance. Here, we report on two cases of progressive scoliosis in CCD, pointing out the value of a muscle biopsy to establish the correct diagnosis. The first case involves a 13-year-old boy with severe progressive scoliosis and joint contractures. The patient was initially diagnosed with arthropgryposis multiplex congenita. The second case involves a 45-year-old man with severe scoliosis that had slowly progressed over the years. Both patients suffered from unexplained muscle weakness and severe restriction of pulmonary function. The correct diagnoses were established through muscle biopsies taken from the paravertebral musculature during scoliosis surgery. Correction of the spinal deformities was achieved through posterior instrumentation in both patients, with prior anterior release in one patient. Although scoliosis is a common feature in CCD, the correct diagnosis can be missed in scoliosis patients. Therefore, we recommend a muscle biopsy in patients with scoliosis, unexplained muscle weakness and multiple joint problems.     

Surgical correction of pectus carinatum

Pectus carinatum is an infrequent but eminently correctable chest wall deformity. It is encountered much less frequently than pectus excavatum. In 12 years, from 1973 to 1985, 152 pectus carinatum (16.7%) and 758 pectus excavatum deformities (83.3%) were corrected. It occurs more frequently in boys (119 patients) than girls (33 patients). The majority, 89 cases, were symmetric, while 49 were asymmetric, and 14 were mixed deformities (ipsilateral carinatum, contralateral excavatum). In almost half the patients the deformity was not identified until after the 11th birthday. A family history of chest wall deformities was present in 26%, and of scoliosis in 12%. Associated musculoskeletal abnormalities were identified in 34 patients (scoliosis 23, Poland's syndrome 4, neurofibromatosis 2, Morquio's disease 2, vertebral anomalies 1, hyperlordosis 1, and kyphosis 1). Surgical correction required bilateral resection of the third through seventh costal cartilages in 143 patients, and unilateral resection in nine patients with an isolated abnormality. A single osteotomy was used in 88 patients and a double osteotomy in 53 patients. In 11 cases no osteotomy was required. Mixed deformity with posterior angulation of the sternum was managed by osteotomy and anterior displacement. The remaining cases had sternal osteotomy and fracture of the posterior cortex to correct anterior angulation. The operation was completed with a low complication rate 3.9% (pneumothorax 4, wound infection 1, atelectasis 1, and local tissue necrosis 1). Three patients required revision with additional unilateral lower cartilage resection for persistent malformation of the costal arch. All patients ultimately had a satisfactory result.     

Surgical correction of dystrophic spinal curves in neurofibromatosis. A review of 56 patients

STUDY DESIGN: A presentation of the results from 56 patients with dystrophic spinal deformities caused by neurofibromatosis surgically managed from 1971 to 1992. OBJECTIVES: To focus on the need for combined anterior and posterior fusion in the presence of severe spinal dystrophic changes. SUMMARY OF BACKGROUND DATA: It has been stated that the most effective management for dystrophic curves is early and aggressive surgery. METHODS: The patients were divided into two groups: Type I scoliosis (kyphosis < 50 degrees) and Type II kyphoscoliosis (kyphosis > 50 degrees). Results were evaluated in relation to the type of surgery performed: single posterior instrumented fusion or preplanned combined anterior and posterior fusion. RESULTS: At a mean follow-up period of 15 years (range, 5-22 years), all patients appeared to be stabilized, after a total of 120 surgical interventions. In Group I, the posterior instrumented fusion failed in nine patients (47%), and in Group II it failed in seven patients (63%). The preplanned combined anterior and posterior fusion failed in two patients (33%) in Group I and in four patients (20%) in Group II. The failure incidence of the posterior instrumented fusion alone and of the planned anterior and posterior fusion was 53% (16 patients) and 23% (6 patients), respectively. CONCLUSIONS: The severe dystrophic curve with anterior vertebral scalloping always requires combined anterior and posterior stabilization, particularly in younger patients, even if the sagittal curves have not become pathologic by the time of presentation.