Scoliosis associated with neurofibromatosis

Neurofibromatosis type 1 (NF-1) is a multisystemic disease. It may manifest as abnormalities of the nervous tissue, bones, soft tissue, and skin. The manifestations of NF-1 vary from person to person and range from subclinical to severe. Individuals who carry the gene eventually exhibit some clinical feature of the disease. The penetrance for NF-1 nears 100% during adulthood. Skeletal abnormalities are common in NF-1, with most patients presenting with some type of bony dysplasia. The orthopedic complications usually appear early. They include spinal deformities, such as scoliosis or kyphosis, congenital tibial dysplasia with bowing and pseudarthrosis of the tibia, forearm, other bones, as well as overgrowth phenomenon of an extremity, and soft tissue tumors.     

Scoliosis surgery in children

The first 150 words of the full text of this article appear below. Key points Scoliosis is most commonly idiopathic in origin,but it may be congenital or secondary to neuromuscular disease,trauma, infection or neoplasm. Surgery aims to correct thecurvature, improve posture and reduce progression of respiratorydysfunction. Cardio-respiratory dysfunction may exist as aresult of progressive scoliosis or be related to coexistingdisease, therefore careful preoperative assessment is required. Intraoperativeconsiderations include the prone position, avoiding hypothermia,minimizing blood loss and monitoring spinal cord function. Goodpostoperative pain control is essential and requires a multimodalapproach.   Scoliosis is a lateral curvature and rotation of the thoraco-lumbarvertebrae with a resulting rib cage deformity. It may be idiopathicor secondary to neuromuscular disease, infection, tumour orinjury (Table 1). View this table: [in this window] [in a new window]   Table 1 Classification of scoliosis aetiology   Curvature is measured using the Cobb angle (Fig. 1). A lateralcurve of >10° is considered abnormal.¹      

Scoliosis in neurofibromatosis. The natural history with and without operation

We reviewed 47 patients with neurofibromatosis and dystrophic spinal deformities; 32 of these patients had been untreated for an average of 3.6 years and in them the natural history was studied. The commonest pattern of deformity at the time of presentation was a short angular thoracic scoliosis, but with progression the angle of kyphosis also increased. Deterioration during childhood was usual but its rate was variable. Severe dystrophic changes in the apical vertebrae and in particular anterior scalloping have a poor prognosis for deterioration. The dystrophic spinal deformity of neurofibromatosis requires early surgical stabilisation which should be by combined anterior and posterior fusion if there is an abnormal angle of kyphosis or severely dystrophic apical vertebrae. Some carefully selected patients can be treated by posterior fusion and instrumentation alone.     

Scoliosis surgery in the Prader-Willi syndrome

There is a high incidence of spinal deformity in children with the Prader-Willi syndrome. We have encountered major complications following spinal surgery in this condition. We report our experience and conclude that spinal surgery is a formidable undertaking and the risks should be appreciated by the surgeon and the parents.     

The role of surgery in children with neurofibromatosis

BACKGROUND/PURPOSE: Neurofibromatosis frequently is complicated by the development of symptomatic lesions such as optic gliomas and plexiform neurofibromas that require operative resection. Although characteristically benign, these neoplasms have often devastating functional and cosmetic effects and must be monitored for malignant transformation. The purpose of this study is to identify and describe the surgical considerations in the care of children with neurofibromatosis. METHODS: The authors reviewed the charts of all children (<21) at our institution with neurofibromatosis who underwent an operative procedure from 1979 to 1999. Patient demographics, symptomatic lesions, malignant transformation, form of surgical intervention, type of anesthesia, and outcome were collected. RESULTS: A total of 249 patients with either neurofibromatosis 1 or 2 were identified. Of these, 50 (20%) underwent a total of 93 operations. The average age at operation was 9.4 years (1.2 to 21 years). There were 40 soft tissue procedures, 21 intracranial, and 32 miscellaneous. The soft tissue masses typically were treated with wide local excision, and in 8 of these procedures multiple resections were performed. Fourteen of the 50 patients had malignancies. Five of the tumors were soft tissue sarcomas, and 9 were intracranial malignancies. Three patients died, 2 from malignancy and 1 from acute, obstructive hydrocephalus after operation. There were 3 patients alive with malignancy and 8 others living with varying levels of disability. CONCLUSIONS: Neurofibromatosis in the pediatric patient frequently requires surgical intervention, often because of symptoms such as pain or cosmetic deformity, or for malignancy. Children should be watched carefully for signs of malignant transformation and undergo biopsy for neurofibromas that exhibit rapid growth. Management of sarcomas should be aggressive with consideration given to re-excision, placement of brachytherapy catheters, metastectomy, and limb salvage with adjuvant therapy when possible. Preoperatively, children should receive clinical and radiographic (computed tomography or magnetic resonance imaging) evaluation for hydrocephalus.     

Scoliosis surgery and its effect on back shape

Thirty-four patients with adolescent idiopathic scoliosis were assessed by radiography and the integrated shape imaging system (ISIS) both before and after spinal surgery. Twenty-seven patients underwent Harrington instrumentation, after which lateral indices of curvature were significantly improved, but changes in the transverse plane were less pronounced. Sublaminar wiring was carried out in two patients whose thoracic lordosis was corrected by the surgery. Five patients whose severe deformity had persisted after previous spinal surgery underwent costoplasty, which resulted in a significant improvement in back shape measurements. We conclude that the cosmetic deformity of the back in scoliosis is only partially corrected by operations on the spine itself, whilst costoplasty addresses the problem directly, and improves the surface shape.     

Scoliosis in childhood

Scoliosis is the most frequently encountered spinal deformity of childhood. It is a three-dimensional deformity with lateral curvature in the coronal plane and associated rotation. Scoliosis is classified according to its a etiopathogenesis; it can be idiopathic (80%), congenital, neuromuscular or syndromic. Treatment depends on the etiology, age and maturity at presentation and magnitude of the deformity. The mainstay of treatment for significant scoliosis is surgery by way of spinal instrumentation, correction and bone grafting to achieve a selective fusion of the spine. Surgical aims vary depending on aetiology; late onset idiopathic -improve cosmesis, neuromuscular optimize function and early onset optimize lung development and growth.     

Scoliosis in infancy

1. The paper deals with 101 patients (52 male, 49 female) who have been treated in the first and second years of life because of resolving scoliosis and could be re-examined later at the age of 15 between 17 years. 2. The clinical and roentgenological findings of seven patients only had been normalized, where as in all other cases low lateral deviations of the spinal column (77 times), frequently at a modified type of curvature (44 times) or structural modifications (77 times, 17 spinal columns without lateral deviations), or not rarely, even both of them, had been found. 3. During development it came to a displacement of the vertex-vertebra on a average of 1-2 vertebrae to caudal. 4. No inspected resolving scoliosis had change over into a progressive scoliosis, a coherence consists not with idiopathic scoliosis of the prepuberty and puberty.