Scoliosis in cat cry syndrome

Background Cat cry syndrome is an autosomal disease accompanying abnormal deletion of chromosome 5 and occurs in only 1 of 50,000 neonates. Scoliosis has been reported as a skeletal complication in cat cry syndrome. The characteristics and causes of scoliosis in this rare syndrome are unknown. The purpose of this study was to present the characteristics of scoliosis in cat cry syndrome and to speculate on its causative mechanisms. Methods We report on 11 cases (5 boys and 6 girls) of cat cry syndrome. Detailed investigations of scoliosis, as well as physical and imaging examinations, were performed to characterize scoliosis and its causes. Average age at initial diagnosis of scoliosis was 4.3 years, and average age at final examination was 11.8 years. Results The incidence of scoliosis was as high as 73% (8/11). Most cases show a single right thoracic curve. Of the 8 patients with scoliosis, 3 patients who had increased muscular tone showed marked progression of scoliosis with growth. Conclusions Muscular hypertonia may play a key role in the progression of scoliosis in cat cry syndrome.     

青少年脊柱侧凸的普查及其与褪黑素的关系

目的：了解海口市青少年儿童脊柱侧凸患病率及发病机制与褪黑素的关系及作用。方法：应用脊柱侧凸二检法(体检、X线照片)，对8198名7～16岁在校学生进行普查筛选，并按年龄段及性别分组并设对照组，放免法进行褪黑素测定与统计学处理。结果：一检阳性242人，阳性率2．95％；复检阳性17人，占0．21％。其中男性患病率为0．20％。女性患病率为0．21％，男女患病率之比为0．95：1。青春前期10岁前年龄段褪黑素含量均低于青春期组及对照组，尤以女性为显，具有高度统计学意义。结论：学校大范围普查是防治AIS的关键环节。血清中褪黑素含量与AIS发病机制有关。     

Bleeding Time and Scoliosis

Collagen abnormalities in idiopathic scoliosis are on record. Since there is a correlation between the platelet aggregating power of the collagen and the bleeding time in patients with scoliosis, the bleeding time was studied in 195 cases with scoliosis and in 318 controls. The bleeding time was longer in the females, especially in those with idiopathic scoliosis (n = 149). Patients with paralytic scoliosis (n = 5) also had a significantly longer bleeding time than non-scoliotic controls. The patients with congenital scoliosis (n = 13) did not differ significantly from the controls or from patients with idiopathic scoliosis. The bleeding time in idiopathic scoliosis did not vary with age or magnitude of the scoliosis. Our data support the view that collagen abnormalities play a role not only in the aetiology of idiopathic scoliosis, but also in other forms of scoliosis.     

Scoliosis in myelomeningocele

Prevalence, type, and magnitude of scoliosis were studied in 163 patients with myelomeningocele. A scoliosis was diagnosed in 143 of them, congenital in 15 percent of the cases and developmental in the remaining patients. The severity of scoliosis increased with age and was more severe the higher the level of the neurologic deficit. The direction of the curves was correlated with pelvic obliquity, but not with hip dislocation. Although some patients with low level anomalies may develop severe scoliosis, patients with levels above L3 run a considerably higher risk in this respect. The radiographic baseline examination of the spine carried out in the newborn seems to permit a reasonable prognosis in regard to future scoliosis. Gross syringohydromyelia caused or contributed to scoliosis in 5 percent of the cases. However, less extensive syringohydromyelia and Chiari malformations due to abnormal neuromuscular control also promote the development of scoliosis in these patients.     

Electromyography of the paravertebral muscles in idiopathic scoliosis: Measurements of amplitude and spectral changes under load

The myoelectric activity of the paraspinal muscles was recorded in girls with idiopathic scoliosis and in healthy controls. The muscles of the back were loaded isometrically and the signals recorded at the T8 and L3 levels were analysed as regards amplitude and frequency. A comparatively higher signal amplitude was found on the convex side of the scoliosis curve. This was found to be due to a lower amplitude on the concave side when the scoliosis group was compared to the controls. The amplitude difference was correlated to the degree of scoliosis. A shift in the myoelectric spectrum toward lower frequencies occurred during the loading period. There were no differences in this respect between the sides of the scoliosis, nor were there differences between the scoliosis patients and the controls.

Secondary adaptation to the higher load demand by the muscles on the convex side in scoliosis is the most probable explanation for our observations.     

Scoliosis in neuromuscular disorders

Summary Hundred-seventy patients with the 4 commonest degenerative neuro-muscular disorders (limbgirdle and Duchenne muscular dystrophy, Kugelberg-Welander's spinal muscular atrophy and peroneal muscular atrophy) were screened for scoliosis, which was found in 56%. Of 76 patients in the early stages of their respective discorders (stages 1–6 of Gardner-Medwin and Walton), scoliosis was found in 72%. The incidence of scoliosis was not related to the duration or degree of clinical weakness. Morphologically, scoliosis in these disorders was not found to differ from idiopathic scoliosis.Neither side nor site of the scoliosis were related to the distribution of muscle weakness as determined by manual testing.Presented at XIV World Congress of SICOT, Kyoto, 1978     

Abnormalities of the spine in relation to congenital upper limb deficiencies

A retrospective study was performed to determine the incidence of spinal abnormalities in patients with skeletal defects of the upper extremities. The incidence of scoliosis in the patient population studied was 16%, and spinal abnormalities of all types were present in 18% of the population. Patients with bilateral amelia had a 100% incidence of scoliosis. Those patients with unilateral amelia had a 50% incidence of scoliosis. Patients with ulnar and radial hemimelias had an incidence of scoliosis of 20 and 13%, respectively. The transverse complete and partial hemimelics had an 18% incidence of scoliosis and the phocomelic group had an incidence of 11%. The patient population studied had an increased incidence of scoliosis compared with the general population. The patients with amelia had a particularly high incidence of scoliosis. There was no relationship between the side of the deficiency and the direction of the curve. The age of onset was not found to be related to the progression of the curve. The results of bracing were poor, due to patient rejection of the brace. All patients with upper limb deficiencies warrant close observation throughout growth for the development of scoliosis.     

应用KASS系统前路矫正治疗特发性脊柱侧凸

[目的]探讨应用KASS系统前路矫正治疗特发性脊柱侧凸的临床效果。[方法]应用KASS系统治疗总123例病例。根据King分型法可分为：胸椎侧凸47例（其中Ⅱ型13例，Ⅲ型18例，Ⅳ型16例），胸腰椎或腰椎侧凸76例。所有病例中均对主要侧凸部位行前路矫形手术，平均随访7年7个月（2年～13年6个月）。[结果]所有病例均获骨性融合，胸椎生理性后凸和腰椎生理性前凸基本正常。胸椎侧凸部位矫正率为68％，胸腰椎或腰椎侧凸矫正率为81％。胸椎最底椎水平倾斜改善率分别为78％和83％，顶椎旋转矫正率分别为59％和70％。无神经血管及内置物引发的并发症。[结论]KASS系统可提供强有力的三维矫正效果，且融合节段少。     

Postural and time-dependent effects on body height and scoliosis angle in adolescent idiopathic scoliosis

Changes in body height and scoliosis angle under the influence of gravity were studied in 40 patients with adolescent scoliosis. The average decrease in body height was 1% during a day. There were no significant changes in the mean angles of the scoliosis curves during the day. The patients were grouped according to age, standing and sitting heights, weight and skeletal maturation. A decrease in the scoliosis angles occurred in younger, more skeletally immature and lighter individuals, while an increase occurred in older, more skeletally mature and heavier individuals. The difference between the scoliosis angles measured from standing and supine views was also analyzed. The correction of the scoliosis angle in the supine position was on average 19%. No correlation was found between the change in angle and any of the growth factors studied. There was also no correlation between the change in angle and the degree of curvature.     

The effects of melatonin therapy on the development of scoliosis after pinealectomy in the chicken

The mechanism underlying the development of scoliosis after pinealectomy in young chickens is unknown. However, since the main product of the pineal gland is melatonin, melatonin remains an obvious focus in studies designed to discover this mechanism. One confounding factor is that serum melatonin levels are close to zero after pinealectomy but scoliosis does not develop in all chickens that have had this procedure. Therefore, the role of melatonin in the development of scoliosis in chickens after pinealectomy remains controversial. In the current investigation, two pilot studies demonstrated that a physiological therapeutic dose of melatonin (2.5 milligrams per kilogram of body weight) restored the circadian rhythm of melatonin, as measured by serum assay. In the main study, this dose was administered daily starting either immediately after the pinealectomy or two weeks after it, when scoliosis had developed. Scoliosis was assessed on weekly radiographs, and the Cobb angle was determined for all chickens in which scoliosis developed. Overall, scoliosis developed in only 56 percent (fifty) of the eighty-nine chickens that had had a pinealectomy; this rate was consistent throughout all experimental groups. Scoliosis did not develop in any of the control chickens, which did not have a pinealectomy. On the basis of the average Cobb angles in the chickens in which scoliosis had developed, it was determined that neither the prevalence nor the pattern of the scoliosis was affected by the therapy in any of the experimental groups. It was thus concluded that melatonin therapy after pinealectomy in young chickens has no effect on the development or progression of scoliosis. These results raise doubts regarding the role of melatonin in the development of scoliosis after pinealectomy in the young chicken.     

Epidemiological aspects of scoliosis in a cohort of Japanese patients with Prader-Willi syndrome

Background contextThe prevalence of scoliosis in Prader-Willi syndrome (PWS) is high; however, the prevalence of PWS is rare, with one person in 10,000 to 20,000 affected. The etiology and characteristics of scoliosis associated with PWS remain unidentified. In addition, it is believed that the speedup of growth associated with growth hormone (GH) supplement treatment may influence the deterioration of scoliosis in PWS.PurposeTo investigate scoliosis in Japanese patients with PWS.Study designRetrospective observational study.Patient sampleWe investigated 101 patients (67 men, 34 women) who were followed up from November 2002 to January 2008. All patients were diagnosed using fluorescence in situ hybridization or the methylation test. Of the 101 patients, 80 had an inherited deletion of chromosome 15q11–13 (deletion) and 21 patients had no deletion, including those with uniparental disomy.Outcome measures1) Prevalence of scoliosis; 2) association of scoliosis with GH treatments; 3) association of scoliosis with genotype; 4) clarification of PWS scoliosis characteristics; and 5) analysis of severe PWS scoliosis patients (Cobb angle greater than 40°). Scoliosis for our study was defined as scoliosis with a Cobb angle greater than 10°.MethodsTo investigate PWS-associated scoliosis, we used spinal X-ray examinations. The pattern of scoliosis was classified into three types: primary single lumbar or thoracolumbar curve (Type 1), double curve (Type 2), and primary single thoracic curve (Type 3). For statistical analysis, chi-square tests for the distribution of patients were used (p<.05).Results1) Scoliosis was found in 38.6% (39/101) of patients with PWS. 2) There was no statistical difference in the prevalence of scoliosis between the GH treatment group (32.8%) and the GH nontreatment group (group with no GH treatments) (46.5%) (p=.16, chi-square test). 3) There was no statistical difference in the prevalence of scoliosis between the deletion group (38.8%) and the nondeletion group (38.1%) (p=.84, chi-square test). 4) Scoliosis was classified into three types, according to single or double curve scoliosis and position of scoliosis. The prevalence of these groups was 61.5% for Type 1 (primary single lumbar and thoracolumbar curve), 48.7% for lumbar curve convex on the left side, 28.2% for Type 2 (double curve), and 10.3% for Type 3 (primary single thoracic curve). 5) Severe scoliosis was found in nine patients (8.9%, 9/101). Type 2 was found in 66.7% (6/9) of patients with severe scoliosis. During the follow-up period, two patients changed from Type 1 to Type 2.ConclusionsScoliosis in PWS can be classified into three types. A lumbar curve convex on the left side was found in most patients. In addition, severe deterioration of scoliosis was found in Type 2 patients. Therefore we recommend careful, ongoing observations for patients showing double curve tendencies.     

Disc and vertebral wedging in patients with progressive scoliosis

A retrospective longitudinal radiographic study of patients with progressive scoliosis was conducted to determine the relative amount of wedging between vertebrae and discs as a function of progression of the scoliosis curve, cause of the scoliosis, and anatomic curve region. Posteroanterior radiographs of 27 patients with idiopathic scoliosis and of 17 patients with scoliosis associated with cerebral palsy were studied. The amount of wedging of vertebrae and discs at the curve apex was measured by the Cobb method and expressed as a proportion of the curve's Cobb angle. On average, the relative amount of vertebral and disc wedging did not differ significantly between initial and follow-up radiographs made after progression of the scoliosis. In both groups of patients, the mean vertebral wedging was more than the disc wedging in the thoracic region; the converse was found in curves in the lumbar and thoracolumbar regions. The patients with scoliosis associated with cerebral palsy had curves that were longer and more commonly in the thoracolumbar and lumbar regions. The relative wedging did not change significantly with curve progression and did not appear to differ by diagnosis. In the management of scoliosis, including small curves, it should be recognized that both the vertebrae and discs have a wedging deformity.     

青少年特发性胸段脊柱侧凸患者肺功能受限的决定因素

目的：通过对脊柱侧凸患者呼吸功能障碍程度与脊柱畸形特点间关系的研究来探讨脊柱畸形矫治术改善肺功能的可能性。方法：本文对７２例青少年特发性胸段脊柱侧凸患者的肺功能及脊柱侧凸角的大小、后凸角的大小、顶椎旋转程度、顶椎的位置、侧凸节段的长短做了仔细的检查和测量，并对两者间的关系进行了多元相关分析。结果：肺容量（以肺活量实测值占预计值的百分比ＶＣ％代表）及肺通气量（以最大通气量实测值占预计值的百分比ＭＶＶ％代表）与侧凸角及侧凸累及的胸椎椎体数目呈显著负相关关系（Ｐ＜０．０５）；与顶椎所在的位置在胸段的排列顺序呈显著正相关（Ｐ＜０．０５）；而与后凸角及顶椎旋转程度无明显相关。表明脊柱侧凸患者肺功能受损害的程度是由顶椎位置、侧凸节段长短及侧凸角度大小决定的。换句话说，顶椎在胸段的位置越高、累及的胸椎数目越多、侧凸角度越大，肺功能受限就越严重。结论：本研究结果提示改善肺功能必须大幅度矫正侧凸角，如能使之为０°，则可同时消除侧凸位置及节段的影响。     

A rare cause of neuromuscular scoliosis: Alexander disease

Alexander disease belongs to a group of progressive neurological disorders in which the destruction of white matter in the brain is accompanied by the formation of fibrous, eosinophilic deposits known as Rosenthal fibers. Spinal deformity rarely accompanies this disease. The aim of this report is to present a patient with juvenile-onset Alexander disease, who also had progressive neuromuscular type scoliosis requiring surgical stabilization. A 13-year-old male presented with bilateral weakness in both lower extremities and scoliosis. Results of an examination of the spine showed a left thoracic scoliosis with prominent left paraspinous prominence and elevation of the ipsilateral shoulder. Spinal fusion with rigid internal stabilizing instrumentation was selected for surgical treatment of the scoliosis. The fusion area was to be from T2 to L4. He was instrumented with pedicle screw fixation system, and he underwent fusion with an allogenous bone graft. Satisfactory correction of the sagittal and coronal plane deformity was achieved, reducing the scoliosis to 14°. At the 5-year follow-up, results of a clinical examination showed a marked improvement in truncal balance and walking ability. The patient had a rapidly progressive scoliosis and severe decompensation requiring surgical stabilization. The scoliosis behaved in a manner similar to that of neuromuscular scoliosis. Therefore, more aggressive treatment was warranted to prevent decompensation. For that reason, posterior long segment (T2–L4) pedicle screw instrumentation and fusion was performed for surgical treatment.     

Prevalence of scoliosis in children with myelomeningocele in western Sweden.

In a cross-sectional study of the prevalence of scoliosis in patients with myelomeningocele, 131 patients 5-20 years of age were investigated with clinical examination and radiograms. Sixty-nine percent of the myelomeningocele patients had scoliosis, this prevalence being present already at a young age (6 years). The occurrence of scoliosis increased drastically at high levels of dysraphism, being 20% in patients with sacral myelomeningocele but 94% in patients with thoracic MMC level. Between ages 5 and 10, the mean scoliosis increased successively from 15 to 33 degrees. After this age there was no significant further increase. The ambulatory status of the patients was strongly correlated to the scoliosis incidence. Forty-nine percent of the patients had a uni- or bilateral hip dislocation. There was no correlation between the side of the scoliosis convexity and the side of hip dislocation.     

Clinical etiological classification of scoliosis: report of 1289 cases

Objective: With the development of diagnostic techniques and in‐depth understanding of lateral curvature of the spine (scoliosis), it is possible to differentiate idiopathic scoliosis from other forms with various known etiologies. The present study was to analyze data collected at the authors' center according to the current etiological spectrum and classification of scoliosis. Methods: One thousand, two hundred and eighty‐nine consecutive patients with different forms of structural scoliosis were reviewed. The average age at first visit was 18 years, ranging from 4 months to 79 years. Corrective surgery was performed on patients aged from 9 to 28 years; their clinical data were retrieved for independent statistical analyses, and further compared with those obtained from the whole group. Results: The prevalence of non‐idiopathic scoliosis was 25.3% in the whole series, but it increased to 34% in the surgical group aged from 9 to 28 years. Thirty‐nine percent of patients with congenital scoliosis presented at least one developmental spinal cord malformation. Conclusion: The current study has shown that the etiological distribution of scoliosis has changed a lot from what was true decades ago. Developmental malformation related to scoliosis is one of the risk factors for neurological complications during corrective surgery, so it is important to make an accurate diagnosis and take appropriate prophylactic measures to avoid relative neurological complications.     

Scoliosis associated with syringomyelia: analysis of MRI and curve progression

Little is known about the natural history of scoliosis found in patients with syringomyelia, including the factors affecting scoliosis curve progression and the effect of syrinx drainage treatment. Twenty patients having scoliosis with syringomyelia diagnosed by MRI were followed up for 6.6 (range 2.0–12.6) years on an average. Various factors potentially influencing curve pattern or progression in these patients were then retrospectively reviewed. The convex side of major curve of scoliosis tended to be on the same side as the syrinx and as the unilateral neurologic abnormality. No correlation was found between the location and the size of the syrinx and the location and size of the major curve of the scoliosis, or between the severity of neurologic deficit and the size of the major curve of the scoliosis. In patients under the age of ten at the time of diagnosis of scoliosis and with a flexible curve, decompression of the syrinx improved or stabilized scoliosis. In most patients over the age of ten, surgical treatment of the scoliosis was necessary because of the large initial size of the curve or progression of the curve even after syrinx drainage. Other factors including gender, location of the syrinx, type of the curve, and severity of neurologic deficits did not correlate with the progression of the curve. The results of this retrospective study suggest that early diagnosis and decompression of a syrinx in scoliosis patients especially under the age of ten is crucial and may decrease the curve size and limit scoliosis curve progression.     

Scoliosis in the elderly: a follow-up study

A follow-up x-ray study of 554 subjects aged between 50 and 84 years has been carried out to determine the appearance, presence, and progression of scoliosis in the elderly and its relationship to osteoporosis and back pain. The subjects were chosen from a population group of 3600 subjects examined 7 to 13 years previously in the same investigators. Some degree of scoliosis was found in 70% of the subjects, and curves of 10 degrees or more in approximately 30%. Ten percent of the subjects had developed scoliosis de novo during the follow-up period. There was no direct relationship between the presence or progression of scoliosis and osteoporosis. There was no direct relationship between scoliosis and back pain or between scoliosis and degenerative changes in the spine. Since scoliosis in the elderly seldom becomes a clinical problem of significance, there would appear to be no valid reason for a more extensive study of the condition at this time.     

Spinal deformity after combined thoracotomy and sternotomy for congenital heart disease

Patients with congenital heart disease are at an increased risk to develop scoliosis. The purpose of this study was to determine the incidence of spinal deformity in patients after thoracotomy and sternotomy for congenital heart disease. METHODS: Sixty-eight patients underwent thoracotomy followed by a sternotomy and met inclusion criteria. The medical records were reviewed to gather demographic data and medical and surgical history. Serial radiographs were reviewed. RESULTS: Scoliosis developed in 26% of the patients (10 boys, 8 girls). The mean Cobb angle was 40 degrees (range, 15-78 degrees). The mean age at diagnosis of scoliosis was 10.7 years (range, 2.9-17 years). The mean follow-up was 14.9 years (range, 5-20 years). Twelve percent (8 patients) required posterior spinal fusion. A kyphotic deformity developed in 21% (14 patients). In patients with scoliosis, the mean kyphosis was 38 degrees (range, 2-88 degrees). Patients with a cyanotic cardiac condition had a 4-fold incidence of scoliosis. There was no correlation between the development of scoliosis or kyphosis and the age at time of procedures, number of surgeries, sex, heart size, or side of the aortic arch. CONCLUSIONS: The risk of developing scoliosis in children with congenital heart disease is more than 10 times that of idiopathic scoliosis. Spinal deformities, including scoliosis and/or hyperkyphosis, were found in 38% of the patients. Curves develop at a younger age, which increases the risk of progression. The sagittal alignment in scoliosis patients tends toward hyperkyphosis. The thoracic spine receives a "double hit" when both procedures are combined.     

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.