Spine deformity can be idiopathic (more than 80% of cases), neuromuscular, congenital or neurofibromatosis-related. However, there are many disorders that may also be involved. We present our experience treating patients with scoliosis or other spine deformities related to rare clinical entities.
A retrospective study of the records of a school-screening study in North-West Greece was performed, covering a 10-year period (1992–2002). The records were searched for patients with deformities related to rare disorders. These patients were reviewed as regards to characteristics of underlying disorder and spine deformity, treatment and results, complications, intraoperative and anaesthesiologic difficulties particular to each case.
In 13 cases, the spine deformity presented in relation to rare disorders. The underlying disorder was rare neurological disease in 2 cases (Rett syndrome, progressive hemidystonia), muscular disorders (facioscapulohumeral muscular dystrophy, arthrogryposis) in 2 patients, osteogenesis imperfecta in 2 cases, Marfan syndrome, osteopetrosis tarda, spondyloepiphyseal dysplasia congenita, cleidocranial dysplasia and Noonan syndrome in 1 case each. In 2 cases scoliosis was related to other congenital anomalies (phocomelia, blindness). Nine of these patients were surgically treated. Surgery was avoided in 3 patients.
This study illustrates the fact that different disorders are related with curves with different characteristics, different accompanying problems and possible complications. Investigation and understanding of the underlying pathology is an essential part of the clinical evaluation and preoperative work-up, as clinical experience at any specific center is limited.
Spine deformity is idiopathic in more than 80% of cases. The most frequent clinical entities correlated to the development of non-idiopathic spine deformities are neuromuscular disorders, congenital anomalies of the vertebrae, and neurofibromatosis. However, there are many disorders that may lead to the development of spine deformity (Table 1).
Table 1. Etiological Scoliosis Classification (Scoliosis Research Society). Adapted from "The Pediatric Spine: Principles and Practice". 2nd edition, Edited by Weinstein, S.L. Philadelphia, PA Lippincott Williams & Wilkins, pp 1031, 2001.
Treatment of a spine deformity requires an in-depth knowledge of the underlying pathology. The particular features of each case are taken into consideration to select the method of treatment, to determine surgical technique and problems requiring increased attention both intraoperatively and in the postoperative period. Although extensive literature exists regarding neuromuscular scoliosis, the characteristics of spine deformities related to other disorders and syndromes are less known [1-3]. This study aims to examine and present our experience with less common causes of spine deformity.
Over a 10-year period (1992–2002), hundreds of children with spine deformities were under observation, and a major portion of the school population of Central and Northwestern Greece has been examined in a large-scale school screening program .
This extensive material was searched for cases of spine deformity related to less known or rare clinical entities. These patients' records were subsequently reviewed as regards to characteristics of underlying disorder and spine deformity, treatment and results, complications, intraoperative and anaesthesiologic difficulties particular to each case.
Thirteen patients (5 males, 8 females) with spine deformities related to rare disorders were found. The underlying disorder was rare neurological disease in 2 cases (Rett syndrome, progressive hemidystonia), muscular disorders (facioscapulohumeral muscular dystrophy, arthrogryposis) in 2 patients, osteogenesis imperfecta in 2 cases, Marfan syndrome, osteopetrosis tarda, spondyloepiphyseal dysplasia congenita, cleidocranial dysplasia and Noonan syndrome in 1 case each. In 2 cases scoliosis was related to other congenital anomalies (phocomelia, blindness) (Table 2).
Table 2. Patients with Rare Causes of Spine Deformity. Note that cases such Noonan syndrome and scoliosis related to extraspinal congenital anomalies don't fit to SRS classification
In view of the heterogeneity of the patients in this study, the most interesting cases are described, followed by a short discussion of each.
Case 1 – Progressive hemidystonia
A 23-year-old female with progressive right dopa-nonresponsive hemidystonia (dopa-nonresponsive dystonia, DND, is a Childhood dystonia that does not respond to treatment with levodopa, has an unclear pathogenesis and is notoriously difficult to treat) was evaluated at our department. She presented trunk torsion, a long thoracolumbar 33° curve and hyperlordosis. The spine deformity was non-structural, and deteriorated during walking and emotional stress. Orthopaedic intervention was ruled out and continuation of drug treatment was advised. At a four year follow up she presents a stable condition without significant increase of curve magnitude.
Case 2 – Rett syndrome
A 15-year-old female with Rett syndrome was identified and referred to our department for treatment. She presented the typical findings related to this syndrome, as well as a rigid right thoracic curve of 120° with marked kyphosis (Figure 1). Pulmonary function tests could not be performed as a result of her autistic behavior; however arterial blood gases were satisfactory. Surgical treatment was decided and the patient was subjected to combined surgery (anterior and posterior instrumentation and fusion) in a two stage procedure. Due to the severe rigidity of the curve limited correction was achieved. The postoperative course was unremarkable and the patient was discharged 10 days later. At a five year follow up the patient presents a stabilized deformity without clinical findings of further pulmonary deterioration.
Figure 1. A: A 15-year-old female with Rett syndrome. B: The patient presented a rigid right thoracic 120°curve.
Case 3 – Facioscapulohumeral muscular dystrophy
A 27-year-old female with facioscapulohumeral muscular dystrophy was referred to our department for evaluation of an extreme lumbar hyperlordosis, which made ambulation difficult. The patient presented the typical apathetic face, severe weakness of shoulder girdle and upper arm muscles, an extreme lumbar hyperlordosis (120°) and pelvic tilt when standing, as well as a mild double structural scoliotic curve (25°). The hyperlordosis was completely corrected in the supine position. The patient was able to support the upper body and stand only by pressing down on the posterior aspect of her pelvis with both her hands (Figure 2). She was able to sit in a satisfactory position without support. The hyperlordosis was considered secondary to severe pelvic tilt due to inadequacy of the gluteus maximus to maintain hip extension. Loss of support by trunk muscles as a primary cause was ruled out because of satisfactory sitting position. Correction with instrumentation would result in further anterior decompensation. Surgical intervention and orthosis were decided against, for as long as standing remains possible and sitting position without support is satisfactory. At a five year follow up the patient has lost the ability to stay erect, she is using a wheel chair maintaining a satisfactory trunk balance and we believe that surgical treatment is not indicated.
Figure 2. A 27-year-old female with faciohumeroscapular muscular dystrophy. Marked non-structural hyperlordosis. Upright position achieved only by forward pelvic tilt.
Case 4 – Arthrogryposis
A 16-year-old male presented with arthrogryposis and a right thoracic curve of 91 degrees (Figure 3A, 3B). Pulmonary function proved severely deteriorated as spirometry tests recorded FVC 25%, so after careful preoperative evaluation surgical treatment was decided. Anterior surgery was avoided due to poor respiratory function of the patient. Posterior spinal fusion was performed with partial correction of the curve in order to prevent further progression (Figure 3C, 3D). Postoperative hospitalization in intensive care unit was done for one week. The rest postoperative course was uneventful but with long hospitalization regarding the pulmonary functions of the patient. At a 3 year follow up the patient presents a stable condition with improvement of pulmonary function (FVC 30%) and absence of any complication.
Figure 3. A: Preoperative photo of a 16-year-old boy with arthrogryposis. B: Preoperative x-ray reveals a rigid curve of 91 degrees. C: Postoperative photo of the same patient shows partial correction and improved trunk balance. D: Postoperative x-ray shows partial correction of the curve that manages to control further pulmonary deterioration.
Case 5 – Marfan syndrome
A 15-year-old female with Marfan syndrome was referred to our department for treatment of severe scoliosis, following ineffective brace treatment. She presented typical tall stature, long limbs, funnel chest, thoracic hypokyphosis, and an extremely rigid double structural scoliotic curve (right thoracic T6–T12 100°/left thoracolumbar T12–L4 90°). Echocardiography revealed mitral valve prolapse with mild-moderate regurgitation and mild dilation of the ascending aorta. Pulmonary function tests (FVC 45%) showed severe restrictive disease, so anterior approach of the spine preferred to be avoided. The patient was subjected, under prophylactic IV chemoprophylaxis (ampicillin plus gentamycin) in order to prevent endocarditis, to partial correction with the use of posterior spinal instrumentation. The postoperative course was uneventful, and she was discharged on the 16th postoperative day. At six years follow up she presents a stable condition without any recorded complication.
Case 6 – Spondyloepiphyseal dysplasia congenita
Á 6 1/2-year-old male with spondyloepiphyseal dysplasia congenita was treated at our department for severe kyphoscoliosis with a rigid left thoracic (T5–T11) 92° curve. The patient presented a short stature (96 cm – 14 cm shorter than the 5th percentile) with a disproportionately short trunk and chest deformity (Figure 4A). Muscle strength and tone were normal, and no atlantoaxial instability was present. He was subjected to combined surgery (anterior release and posterior instrumentation and fusion) in a two stage procedure (Figure 4B). Intubation presented no complications. The patient remained in the intensive care unit for 3 days. The postoperative course was unremarkable and he was discharged on the 13th postoperative day. At a six year follow up the patient presented further progression of the curve. Progression considered to be correlated to growth hormone treatment that was given for short stature. The patient during that treatment reached 115 cm height but unfortunately the curve further increased. In 2007 new spinal fusion with additional bone graft took place and modification of growth hormone administration is under consideration.
Figure 4. A: A 6 1/2-year-old male with spondyloepiphyseal dysplasia congenita. Short stature, disproportionately short trunk, and kyphoscoliosis. B: Preoperative and postoperative X-ray.
Cases 7, 8 – Osteogenesis imperfecta
Two patients with spine deformity related to osteogenesis imperfecta are being observed at our department.
The first patient is a 19-year-old female with a typical history of multiple long bone fractures and extremity deformities. She has an extremely short trunk with severe kyphoscoliosis (right thoracic T3–T10 85° curve) and characteristic platyspondyly (Figure 5). Pulmonary function tests revealed moderate to severe restrictive disease (FVC 55%), which was not considered a counter indication for posterior instrumentation, as she had been previously subjected to multiple procedures on the extremities with no complications during anesthesia. Intraoperatively, 45 minutes after placing the patient in the prone position, the patient developed severe type I respiratory failure. The procedure was discontinued and the patient was transferred to the intensive care unit, from which she was released in good condition 48 hours later. Six years later the patient is still alive without spinal fusion resulting in gross deformity and marked pulmonary dysfunction that makes surgical treatment a high risk procedure.
Figure 5. Radiographs of a 19-year-old female with osteogenesis imperfecta. Fragile bones, short trunk, severe kyphoscoliosis, and platyspondyly are noticed.
The second patient is also a 19-year-old female with a similar history of multiple fractures and extremity deformities. She has a short trunk and an unusually high right thoracic (T1–T6) 70° curve. The patient was under observation due to severe restrictive pulmonary disease (FVC 50%) and the experience of the previous case. At a four year follow up she presents a slow progression of the curve that causes further pulmonary dysfunction so we try to consider again our options for surgical treatment.
Case 9 – Osteopetrosis tarda (Albers-Schonberg disease)
A 17-year-old male with osteopetrosis tarda was referred to our department for treatment. He had typical cranial deformity, short stature, hearing disability, and a history of multiple operations for correction of cleft palate and dental anomalies (Figure 6A). Radiologic examination revealed typical disease characteristics, as well as a right thoracic (T4–T12) 45° curve with lower lumbar spina bifida (Figure 6B). Complete blood count and chemistry were normal. The patient was subjected to posterior T4–L1 instrumentation and fusion resulting in excellent cosmetic result (Figure 6C). Intubation was difficult due to local anatomy, but there were no intraoperative complications as a result of the brittle vertebrae. No mechanical failure or infection has presented in a follow-up of 8 years.
Figure 6. A: A 17-year-old male with osteopetrosis tarda. Typical cranial deformity, thoracic scoliosis. B: Radiological findings. Note the "thick" quality of bones. C: Excellent result 1.5 years postoperatively.
Case 10 – Cleidocranial dysplasia
An 18-year-old male with cleidocranial dysplasia was referred to our department due to an extremely rigid right thoracic (T4–T11) 85° curve and spina bifida of the lower cervical and superior thoracic vertebrae. Neurological evaluation and MRI revealed no significant findings. The patient was subjected to posterior instrumentation and fusion. Partial correction and prevention of progression, which could cause cardiopulmonary and neurological complications, were achieved. At a 7 year follow up the patients condition is stable.
Case 11 – Noonan syndrome
A 12-year-old female with severe thoracic scoliosis secondary to Noonan syndrome was referred to our department for treatment. At the age of 4.5 years she had been subjected to pulmonary valvoplasty with excellent results and a subsequent normal activity level. She had been unsuccessfully treated with a Boston type thoracolumbar brace. When evaluated at our department, the patient presented a rigid right thoracic (T3–T10) 67° curve with significant rib deformity, a left thoracolumbar (T10–L2) 37° curve and thoracic hypokyphosis (Figure 7). After a thorough work-up consisting of hematological, cardiological, endocrinological and anesthesiological evaluation, surgical treatment was decided on, with prophylactic administration of penicillin and postoperative care in an intensive care unit. The postoperative course was uneventful and the patient was discharged on the 9th postoperative day. At a four year follow up (2006) the patient present stable condition without any complications.
Figure 7. A 12-year-old female with Noonan syndrome. Typical webbed neck. Double structural curve with rib deformity.
Cases 12, 13 – Relation to other congenital anomalies
Two patients with coexisting congenital anomalies were treated that could not be classified in any specific pathology or syndrome.
The first was a 20-year-old female with phocomelia of the left upper extremity and an extremely rigid right thoracic 96° curve and rib deformity (Figure 8A). She was subjected to combined spinal surgery (anterior release and posterior instrumentation and fusion) and posterior thoracoplasty on the convex side (Figure 8B). At a six year follow up she remains with a satisfactory curve correction and good trunk balance without any complications.
Figure 8. A: A 20-year-old female with unilateral phocomelia. Severe thoracic scoliosis with rib deformity. B: Postoperative result after combined anterior and posterior surgery.
The second was a 15-year-old male with congenital blindness and a double structural 65°/50° scoliotic curve. He was subjected to posterior instrumentation and fusion with satisfactory result concerning trunk balance and curve correction. Four years postoperatively the patient presented with late postoperative infection so removal of instrumentation took place as satisfactory bony fusion was recorded intraoperatively. Three years after removal of instrumentation he maintains a good trunk balance without any signs of infection.
Dystonic disorders are a well-recognized cause of functional spine deformity [5,6]. However, there have been reports of cases where these deformities were initially treated as idiopathic structural deformities, resulting in unwarranted surgical treatment . In our case, walking and emotional stress accentuated a non-structural hyperlordosis. No orthopaedic intervention was necessary.
Rett syndrome is a developmental disorder caused by mutation of the X chromosome. It presents sporadically mostly in females with a prevalence of 1/10,000. After a period of normal development of 6–18 months, Rett syndrome manifests with hypotonia, autism-like behavior, aphasia, loss of voluntary control of the upper limbs with appearance of typical involuntary movements, and unstable wide-based gait with equinus deformity . In 36–100% of patients it is related to early onset long thoracolumbar curves with frequent concomitant marked kyphosis . The deformity progresses rapidly and usually necessitates surgical treatment. These patents require particular caution during anesthesia, as a result of cardiopulmonary immaturity . Hemorrhagic diathesis may be present if valproic acid has been administered, while one case of sudden death 4 weeks postoperatively has been reported [10,9]. The patient treated at our department had an extremely rigid long thoracolumbar curve with marked kyphosis. Her intraoperative and postoperative course was unremarkable.
Facioscapulohumeral muscular dystrophy is a usually benign genetic disorder that mainly affects facial musculature, muscles of the shoulder girdle and the upper arm . Muscles of the pelvic girdle and ankle extensors are mildly affected. Spinal involvement is common, but typically consists of mild scoliosis and/or mild hyperlordosis. Extreme caution should be taken to assess the causal relationship between the hyperlordosis and pelvic tilt. Surgical correction of compensatory hyperlordosis may completely decompensate trunk balance. Our patient presented an atypical extreme lumbar hyperlordosis, which corrected in the supine position. Her hyperlordosis was compensatory, and any surgical intervention would lead to further decompensation.
Arthrogryposis (arthrogryposis multiplex congenital)
It is a clinical syndrome characterized by multiple joint contractures present at birth. The involved patient presents with a variety of joint contractures and scoliosis [1,3]. More than 150 genetic and non genetic conditions may produce this physical finding. The most common cause considers being absence or decrease of number of anterior horn cells in the area of spinal cord supplying affected body parts. Early correction of contractures with non surgical or surgical means is the appropriate treatment. Scoliosis occurs in 20% of the patients, often present at birth and mostly noted by 5 years of age. The most common curve is thoracolumbar associated with hip contractures and pelvic obliquity but some patients may present long C-shaped paralytic curves. Bracing is used to slow progression in young children; however most of the patients require surgical stabilization. Our patient presented a rigid thoracic curve causing severe lung restriction. Surgical treatment managed to stabilize the spinal deformity and prevent further pulmonary deterioration.
Marfan syndrome is an inherited disorder with a prevalence of 1/10,000. It affects connective tissue (fibrillin production) and results in excessive height with particularly long arms, legs, arachnodactyly, and protrusio acetabulae. Patients may present mild to severe heart failure (mitral and/or aortic insufficiency), aortal aneurysm, myopia, and lens dislocation. Scoliosis develops in over 60% of patients, frequently with multiple curves . The presence of thoracic lordosis and pectus carinatum or excavatum may severely affect pulmonary function. Additional complications include high-grade spondylolisthesis, dural ectasia, and anterior meningocele in the lower lumbar or sacral spine. Operative treatment of scoliosis is indicated in most patients with Marfan syndrome and should address primary and secondary curves [13-15]. Pedicular width and laminar thickness are usually reduced, and pseudarthrosis rate is high in this group of patients . The patient treated at our department presented an extremely rigid double structural curve. She had mild mitral insufficiency, but severe restrictive pulmonary disease. Surgery through an anterior approach under chemoprophylaxis presented no problems, and bony fusion has been achieved.
Spondyloepiphyseal dysplasia congenita is a type of short trunk disproportionate dwarfism with autosomal dominant inheritance and a high spontaneous mutation rate. Patients present retarded ossification of epiphyseal centers and coxa vara. The spine is severely affected with formation of irregular, flat vertebrae and thoracolumbar kyphoscoliosis which usually progresses in late childhood. Pectus carinatum may aggravate restrictive lung disease. Additional anesthesiological difficulties may be present as a result of a hypoplastic odontoid process with atlantoaxial instability and abnormal mandible length [17-19]. Surgical treatment must precede development of significant kyphosis in order to prevent neurological symptoms . Our case presented severe thoracic kyphoscoliosis and chest deformity, without neurological symptoms. Pulmonary function was moderately affected, and intubation presented no difficulty.
Osteogenesis imperfecta is a genetic disorder, which results in production of abnormal quantity or quality of type I collagen. These patients present multiple fractures of long bones and extremity deformities, especially during childhood. Thoracic or thoracolumbar scoliosis develops in 40–80% of patients, with frequent coexistence of kyphosis and vertebral deformities (wedge-shaped vertebrae, platyspondyly, etc) [21,22]. These deformities do not respond to treatment with braces, which may even cause deterioration of chest cage deformity . Surgical technique is difficult due to poor bone quality. Prior to the introduction of segmental instrumentation, cement was necessary for adequate hook stabilization . These patients present a very high rate of respiratory complications, and rarely achieve an increased level of activity postoperatively [24,22]. Our two patients presented severe thoracic kyphoscoliosis and high thoracic scoliosis respectively. Both had chest deformity with moderate to severe restrictive pulmonary disease. The one patient operated on presented severe early intraoperative respiratory failure, which resulted in the discontinuation of the procedure.
Congenital (malignant) osteopetrosis is inherited as an autosomal recessive trait. Patients present a severe deficiency in osteoclast activity and myelophthisis, which lead to severe hematologic and immunologic sequelae. Death usually occurs during the neonatal or infantile period .
Osteopetrosis tarda (Albers-Schonberg disease) is inherited as an autosomal dominant trait. It consists in osteosclerosis of the spine and pelvis, craniofacial disproportion, short stature, blindness, deafness, and dental anomalies. Pathologic fractures are frequent and may lead to normal or delayed healing [26,25]. Thoracic or lumbar scoliosis develops in 25% of cases [26,27]. These patients are susceptible to recurrent infections as a result of macrophage dysfunction. Our case presented a mild thoracic curve with spina bifida. Local anatomy led to a difficult intubation. The patient has not presented mechanical failure or signs of infections in long term follow-up.
Cleidocranial dysplasia (or dysostosis) is an autosomal dominant trait characterized by abnormal formation of endomembranous bones. Affected sites include the midportion of the clavicles, the cranium, and the pelvis. Dental abnormalities are a common finding. Dysplasia of posterior thoracic vertebral elements and syringomyelia may also be present [28,29]. Scoliosis may develop as a result of shoulder girdle muscle imbalance and vertebral dysplasia [30,31]. Progress may be rapid in cases with unilateral clavicular aplasia . These patients present a high rate of respiratory complications . Our patient had an extremely rigid right thoracic curve and spina bifida of the lower cervical and superior thoracic spine. This dysplasia did not interfere with hook insertion, and no respiratory complications presented.
Noonan syndrome has a prevalence of 0.4–1 ‰ and may appear either sporadically or through genetic transmission (30–75%). It is characterized by short stature, a typical face, webbed neck, congenital cardiopathy (65% with pulmonary stenosis being the most frequent), possible cardiomyopathy, possible autoimmune thyroiditis and skeletal anomalies. Spine deformity is present in up to 30% of cases . In most instances the deformity consists in thoracic or thoracolumbar scoliosis, often with thoracic lordosis. The scoliosis appears early and rapidly progresses, usually making surgical treatment necessary. Congenital spine deformities have also been reported. In addition to cardiac and thyroid function, coagulation should also be evaluated. Coagulopathy (absence of clotting factor XI or platelet dysfunction) is present in 20–50% of cases, and presents an additional hazard in surgical treatment of the scoliosis. Finally, there have been reports of malignant hyperthermia during administration of general anesthesia . Our patient had a double structural curve and thoracic hypokyphosis, with no congenital element. The only intraoperative or anesthesiological complication was tachyarrhythmia, despite normal thyroid hormone levels.
There have been many reports in the literature of a correlation between congenital anomalies of the upper extremity and an increased prevalence of scoliosis as related to the general population [33-35]. A prevalence of 7–40% has been reported, depending on the severity of the congenital anomaly . Unilateral amelia is related with scoliosis in 50% of patients, with the prevalence reaching 100% in patients with bilateral amelia . Our patient presented phocomelia correlated with an extremely rigid thoracic scoliosis and significant rib deformity. A combined approach with thoracoplasty led to an excellent result with no complications.
A search of the literature revealed 2 reports, which correlated congenital blindness with spine deformity in 10–60% of patients [36,37]. This correlation may be attributed to the presence of a subclinical central nervous disorder or to chronic dysfunction of balance mechanisms as a result of absent optical stimuli [36,37]. We treated a congenitally blind patient with no other neurological symptoms and a double structural scoliotic curve. His perioperative course was uneventful, and a satisfactory result was achieved.
Study of the presented cases and the related literature reveal the danger in uniform management of spine deformity, regardless of etiology. Many disorders are related with curves with different characteristics, different accompanying problems and possible complications. Every specialist that works with scoliotic patients should be alert to identify rare spinal deformities. Investigation and understanding of the underlying pathology consists essential part of clinical evaluation and preoperative work-up. This is especially true when dealing with rare and complicated disorders such as those described, where clinical experience at any specific center is limited.
Verbal consent for publication was obtained from the patient or their relatives.
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