Deformity In Neurofibromatosis Research Articles

Treating Severe Cervical Deformity in Neurofibromatosis 1 with a Posterior Fibula Graft from Occiput to Thoracic Spine: A Case Report.

Treating Severe Cervical Deformity in Neurofibromatosis 1 with a Posterior Fibula Graft from Occiput to Thoracic Spine: A Case Report.

Spinal deformities in neurofibromatosis 1

Spinal deformities in neurofibromatosis 1

Spinal Deformity in Neurofibromatosis: Classification and Management

The effects of treatment of scoliosis in neurofibromatosis type 1 are less satisfactory than other scoliotic types due to the particular pathogenesis and clinical characteristics. Surgical treatment usually included 360 degrees fusion with instrumentation, but optimal strategies are different according to the degree of deformity. High incidence of pseudarthrosis, extensive bleeding and curve progression even after solid spinal fusion are also major concerns of neurofibromatosis type 1 associated spinal deformity surgery. With advance of technology, cobalt-chrome rod with dural rod technique, tranexamic acid, recombinant human bone morphogenetic protein-2 and electrophysiologic monitoring were used in neurofibromatosis deformity surgery to get better outcome. Searching from PubMed, we reviewed overall about neurofibromatosis spine deformity surgery.

Clinical Outcomes of Combined Anterior and Posterior Spinal Fusion for Dystrophic Thoracolumbar Spinal Deformities of Neurofibromatosis-1

Retrospective study. To analyze the clinical outcomes of anterior and posterior spinal fusion (APSF) using a fibular strut autograft (FSAG) and to investigate the morphological changes in the reconstructed spinal column of dystrophic deformities in neurofibromatosis (NF)-1. APSF is desirable for dystrophic deformities in NF-1 with more than 50° of dystrophic kyphosis. There are few reports regarding the clinical outcomes of APSF in which the morphological changes over time of the anterior strut graft have been investigated. The clinical and radiographic outcomes of APSF with FSAG were investigated in 10 consecutive patients with dystrophic deformity in NF-1. For qualitative and quantitative analyses, the chronological changes in the FSAG configuration, length, and diameter were evaluated. The mean follow-up period was 9 years, 9 months (range, 1-30 years). Graft bone erosion and postoperative curve progression were not observed in any patient. In quantitative analyses of the anterior strut, the mean ratio of the latest and immediately postoperative FSAG lengths was 0.98 (0.93-1.09). The mean central/peripheral ratios of the FSAG diameter (central portion/[upper end + lower end]/2) were 1.02 (0.92-1.10) immediately after surgery, and 1.01 (0.92-1.07) at the latest follow-up, with no significant change between these 2 time points (P = 0.937). The mean preoperative cross-sectional area of the apical vertebral body and its mean virtual cross-sectional area at the final follow-up were 3.80 (1.83-5.43) and 4.87 (2.46-7.00) cm(2), respectively, with a significant difference between these 2 parameters (P = 0.0078). The mean final/preoperative ratio was 1.31 (1.10-1.43). APSF with FSAG for dystrophic deformity in NF-1 successfully reconstructed a reliable spinal column with a rich bone stock. The FSAG and surrounding vertebral bodies were free from postoperative erosion due to dystrophic changes and maintained their stability for a long time.

SURGICAL TREATMENT OF SPINAL DEFORMITIES ASSOCIATED WITH TYPE I NEUROFIBROMATOSIS USING TRANSPEDICULAR FIXATION

The paper presents three cases of surgical treatment for spinal deformities in neurofibromatosis using third-generation segmental instrumentation with transpedicular fixation. Transpedicular fixation provided good clinical effect despite significant decrease in bone density associated with type I neurofibromatosis.

Structural and functional peculiarities of spine deformity development in neurofibromatosis NF-1

To study pathogenetic mechanisms of the development of spinal deformity in neurofibromatosis.Structural components of the spine were presented as specimens obtained after surgical correction of spinal deformity performed in 10 children with III—IV grade scoliosis associated with neurofibromatosis.Etiologic factor of the development of spinal deformity in neurofibromatosis is a mutation of the NF-1 gene in cells of ganglious lamella. Migration of cells carrying mutant gene into one of the sclerotome zones results in oncogene activation and intensive proliferation of chondro-, osteo-, and fibroblasts in the growth plate, intervertebral disc, and vertebral body.Progressive development of the spinal deformity after surgical intervention is accounted both for proliferation of chondro- and fibroblasts in the vertebral body and intervertebral disc and for disturbance of the NF-1 and lumican genes expression.

Corpectomy and circumferential spinal fusion in dystrophic neurofibromatous curves

Spinal deformity in neurofibromatosis, when associated with dystrophic change, is a major treatment challenge. Early anterior and posterior spinal fusion is the accepted treatment plan for severe progressive kyphoscoliosis. Resection of the vertebral body as an additional step in correction and fusion has not been previously investigated. Information on the functional status of the neurofibromatous curves is also scarce in the literature. The purpose of this study is to report an experience with corpectomy and circumferential fusion in dystrophic spines of neurofibromatosis. Among 16 patients with dystrophic spinal curves, nine cases who had undergone anterior and posterior fusion with 6.7years (range 2-11.9) average follow-up were evaluated clinically, radiographically, and functionally (SRS-22). Nine cases with a mean age of 11.8years (range 7.8-17) at surgery consisted of seven kyphoscoliotic patients, who had received one or two levels of cord decompression and corpectomy, and two cases of scoliosis with hypokyphosis. Surgery improved the mean preoperative scoliosis of 87 (range 60-110) and local kyphosis of 69.3° (range 50-100) to 49 (range 15-85) and 49° (range 35-70), respectively. Loss of correction of 5° in the scoliosis and 13° in the kyphosis angles was observed in the final follow-up. One surgery resulted in an immediate postoperative mortality. Fusion was achieved in all cases. The average SRS-22 score of 4.1 (range 3-4.6) was obtained. Simultaneous anterior and posterior fusion with corpectomy for dystrophic neurofibromatous spinal deformities is associated with a high fusion rate, good correction, and also good functional outcome.

STRUCTURAL AND FUNCTIONAL PECULIARITIES OF SPINE DEFORMITY DEVELOPMENTIN NEUROFIBROMATOSIS NF-1

Objective. To study pathogenetic mechanisms of the development of spinal deformity in neurofibromatosis. Material and Methods. Structural components of the spine were presented as specimens obtained after surgical correction of spinal deformity performed in 10 children with III–IV grade scoliosis associated with neurofibromatosis. Tissues were investigated by conventional histochemical and ultrastructural methods. The levels of aggrecan and lumnican gene expression were studied using PCR method. Results. Etiologic factor of the development of spinal deformity in neurofibromatosis is a mutation of the NF-1 gene in cells of ganglious lamella. Migration of cells carrying mutant gene into one of the sclerotome zones results in oncogene activation and intensive proliferation of chondro-, osteo-, and fibroblasts in the growth plate, intervertebral disc, and vertebral body. Since the mutation involves the earliest stages of embriogenesis, the formation of definitive structural components in pathologically altered zones is disturbed. Conclusion. Progressive development of the spinal deformity after surgical intervention is accounted both for proliferation of chondro- and fibroblasts in the vertebral body and intervertebral disc and for disturbance of the lumnican gene expression.

Aetiology of spinal deformities in neurofibromatosis 1: new hypotheses

Neurofibromatosis 1 is a common heritable disorder. The gene causing neurofibromatosis 1 had been recognized and the protein encoded by this gene, neurofibromin, was supposed to play a role in development of various tissues. Neurofibromin was found to have GTP-ase (GAP) domain against small p21 ras. IQGAP1 is another human ras-specific GAP that was found to have calmodulin-binding motifs. Spinal deformities in cases of neurofibromatosis 1 are generally classified into dystrophic and non-dystrophic. Aetiologies of both types are still unknown. We hypothesize that muscle pathology could be the initiating factor for non-dystrophic curves due to neurofibromin deficiency and/or increase of the level of IQGAP. Dystrophic curves might begin as a developmental error due to neurofibromin deficiency in bone. Melatonin deficiency, increased serotonin level with disturbed melatonin–serotonin interactions and calmodulin antagonism by increased IQGAP1 may be responsible for progression of both types of spinal deformities in neurofibromatosis 1.

Modulation of spinal deformities in patients with neurofibromatosis type 1.

A consecutive case retrospective chart and radiographic review. To determine the incidence of nine radiographic dystrophic features acquired during the process of modulation, and to analyze the statistical correlation of these acquired dystrophic features with clinical progression of a spinal deformity. In patients with neurofibromatosis, spinal deformities with seemingly few initial dystrophic features have shown a tendency to acquire dystrophic changes during long-term follow-up periods. Similarly, deformities with dystrophic changes can acquire further dystrophic features. This phenomenon is termed "modulation," a feature unique to spinal deformities in neurofibromatosis. These dystrophic changes may evolve slowly or aggressively, and may spread to other regions as well. A review was done of the clinical records, photographs, radiographs, and other imaging studies of 457 patients referred between 1982 and 1995 with the diagnosis of neurofibromatosis Type 1. One hundred twenty-eight patients were diagnosed with a spinal deformity. Ninety-one patients who had a complete set of clinical and radiographic data were included in the study. Location and type of curve as well as the extent of spinal deformity were studied for their effect on the tendency for modulation. Initial spinal radiographs were analyzed for nine radiographic dystrophic features: rib penciling, vertebral rotation, posterior vertebral scalloping, anterior vertebral scalloping, lateral vertebral scalloping, vertebral wedging, spindling of the transverse process, widened interpedicular distance, and enlarged intervertebral foramina. Subsequent radiographs were analyzed critically for evolution, progression, or spread of these features. Correlation of acquisition in these dystrophic features with clinical progression in the spinal deformity, as measured in increments of scoliosis and kyphosis, was analyzed. In 81% of patients with spinal deformity diagnosed before 7 years of age and in 25% of patients with such a diagnosis after 7 years of age, evidence of modulation was observed. Location, side, and extent of the deformity and patient gender did not influence the propensity of the deformity to modulate. Correlation of modulation with clinical progression of the deformity showed rib penciling to be the only singular factor statistically influencing risk of progression. Of the deformities that acquired three or more penciled ribs, 87% showed significant clinical progression. No other radiographic dystrophic feature individually influenced progression. However, when three or more of the dystrophic skeletal features were acquired, the risk of progression reached statistical significance in 85% of patients. Spinal deformities in patients with neurofibromatosis 1 should be regarded as deformities in evolution. One should resist assigning these evolving deformities to either the dystrophic or nondystrophic end of the spectrum without considering the possibility of modulation across the spectrum. A spinal deformity that develops before 7 years of age should be followed closely for evolving dystrophic features (i.e., modulation). When a curve acquires either three penciled ribs or a combination of three dystrophic features, clinical progression is almost a certainty.

Ｎｅｕｒｏｆｉｂｒｏｍａｔｏｓｉｓに伴うｄｙｓｔｒｏｐｈｉｃ ｔｙｐｅ脊柱変形の手術経験

We performed corrective surgeries on 5 patients with dystrophic spinal deformity. All subjects had such a rigid curve that circumferential dissection and osteotomy of the vertebrae were required for correction. Two cases needed a second operation due to a rapid increase in the nonfused curve caudal to the operated area just after the first operation.Therefore, it is considered that to correct the deformity in neurofibromatosis, circumferential dissection and osteotomy are necessary and during a growing period total long fusion may be necessary to maintain the correction.

Pathophysiology of spinal deformities in neurofibromatosis. An analysis of seventy-one patients who had curves associated with dystrophic changes.

The findings in seventy-one patients who had previously untreated spinal deformities associated with dystrophic changes and who had neurofibromatosis were reviewed to identify the risk factors for progression of the curve as well as the natural history of the dystrophic changes and curve patterns. Four different types of curves were evaluated. Two of them had the most severe progression: (1) kyphoscoliosis with angular kyphosis (gibbus) and marked dystrophic changes and (2) so-called kyphosing scoliosis (a scoliosis that has so much rotation [90 degrees] that progression is evident only on the lateral roentgenogram) with a round kyphosis. Risk factors for substantial progression of the curve were an early age of onset, a high Cobb angle at the first examination, an abnormal kyphosis, vertebral scalloping, severe rotation at the apex of the curve, location of the apex of the curve in the middle to caudal thoracic area, penciling of one rib or more on the concave side or on both sides of the curve, and penciling of four ribs or more.

せき柱側わん症の手術治療 Ｌｕｑｕｅ法を中心に

We treated 8 scoliosis patients (4 idiopathic, 1 congenital, 1 neurofibromatosis and 2 neuropathic cases) by the segmental spinal instrumentation.The postoperative correction rate was (respectively) 52% in idipathic cases.Segmental spinal instrumentation is a method of rigid internal fixation of the spine to maintain correction of a deformity without the necessity of external immobilization. This method can result in a good correction, well-balanced lumbar lordosis and dorsal kyphosis, and correction of the Shift.We belive this method has a good indication especially for the spinal deformity in neurofibromatosis and scoliosis in growing children.

Dystrophic spinal deformities in neurofibromatosis. Treatment by anterior and posterior fusion.

Thirteen patients with dystrophic spinal deformities from neurofibromatosis treated by anterior and posterior fusion have been reviewed. The shortest follow-up was five years, the average seven years. Combined fusion produced satisfactory results in patients with a smooth kyphoscoliosis or with scoliosis without kyphosis, but it was unsatisfactory in patients with an angular kyphoscoliosis. Of the five patients with angular kyphoscoliosis, one had a persistent pseudarthrosis after operation and all had progression of the kyphosis despite the treatment. The morbidity rate also was high in this group of patients. Many of the complications were related to soft-tissue manifestations of the disease. It is recommended that very special attention be paid to the dystrophic angular deformity in neurofibromatosis; even anterior and posterior spinal fusion may fail to control its progression.

Maxillofacial deformities in neurofibromatosis

Maxillofacial deformities in neurofibromatosis

Maxillofacial deformities in neurofibromatosis

Four patients with neurofibromatosis are described: all displayed the feature of an increased depth of the sigmoid notch probably due to an expansive growing neurofibroma of the inferior alveolar nerve. One patient had a local neurofibroma with an invasive growth pattern and only this patient shows hyperplasia of the bone. The suggestion is made, contrary to what is found in the literature, that only the invasive growth type gives rise to hyperplasia and this type is always concomitant with a localized form of neurofibromatosis.

Spine deformity in neurofibromatosis: A review of 102 patients: R. B. Winter, J. H. Moe, D. S. Bradford, et al. J Bone Joint Surg 61A:677–694, (July), 1979

Spine deformity in neurofibromatosis: A review of 102 patients: R. B. Winter, J. H. Moe, D. S. Bradford, et al. J Bone Joint Surg 61A:677–694, (July), 1979

Spine deformity in neurofibromatosis. A review of one hundred and two patients.

The natural history, associated anomalies, and response to operative and nonoperative treatment were reviewed in 102 patients with neurofibromatosis and spine deformity. Eighty patients were found to have curvatures associated with dystrophic changes in the vertebrae and ribs. The presence of dystrophic changes such as rib penciling, spindling of the transverse processes, vertebral scalloping, severe apical vertebral rotation, foraminal enlargement, and adjacent soft-tissue neurofibromas was found to be highly significant in prognosis and management. Brace treatment of dystrophic curves was unsuccessful. Posterior fusion, with or without internal fixation, was the procedure of choice for problems due purely to scoliosis. Patients with dystrophic kyphoscoliosis required both anterior and posterior fusion to achieve stability. Sixteen patients had compression of the spinal cord or cauda equina.

SCOLIOSIS AND NEUROFIBROMATOSIS

1. Analysis of eighty-one patients with neurofibromatosis showed that sixty-two (76 per cent) had café-au-lait markings; 12 per cent had significant spinal deformity. 2. Thirty-three examples of spinal deformity in neurofibromatosis showed a wide variety of patterns and severity of the adult curve. There was no evidence that there was any recognisable pattern of scoliosis in neurofibromatosis. No evidence was discovered to suggest that any acquired local abnormality of bone contributed to the deformity. 3. Some of the severe deformities showed a pattern similar to that seen in the congenital sco1ioses, and this might be the link between the neurofibromatosis and the spinal deformity.