Anaesthetic implications of Robinow syndrome

Robinow (fetal face) syndrome is a rare inherited multisystem disorder featuring mesomelic or acromesomelic limb shortening, facial and spinal deformities, hypoplastic genitalia, kidney disease and congenital heart defects. We report the anaesthetic management of a patient with Robinow syndrome presenting for elective surgery and review specific issues of interest in the perioperative workup.     

Communicating oesophageal duplication: a case report

Duplications of the oesophagus are rare congenital abnormalities and rarely communicate with the oesophageal lumen. They are commonly associated with other congenital malformations, such as spinal deformities, congenital heart disease, vertebral anomalies, malrotation of the bowel, Meckel's diverticulum. During a percutaneous endoscopic gastrostomy, performed because of a neurological dysphagia, the endoscopy revealed a very rare case of a 26-year old man affected by Klippel-Trenaunay syndrome, with an asymptomatic oesophageal duplication that communicated proximally and distally.     

Spondyloepiphysäre und metaphysäre Dysplasie

Spondyloepiphyseal, metaphyseal and spondylometaphyseal dysplasias are a group of hereditary skeletal diseases, which lead to small stature, axial deformities of the lower extremities and spinal deformities. They differ in pathophysiology, heredity and in their clinical and radiologic appearance. The orthopaedic surgeon treats the spinal manifestations and the axial malalignment of the disease. Among the spinal deformities there are instabilities of the upper cervical spine as well as structural deformities like kyphosis and scoliosis. More frequently, the axial malalignment caused by congenital coxa vara, severe genu varum or genu valgum requires treatment. These deformities are managed by corrective osteotomies of the proximal femur, supracondylar or proximal tibial osteotomies around the knee and by temporary epiphyseodeses. Despite a high recurrence rate requiring repeated surgery the patients report great satisfaction with the treatment results. Well-timed orthopaedic treatment helps avoid or delay the inevitable long-term sequelae of untreated patients such as painful degenerative changes of the spine or early onset of severe osteoarthritis.     

Pelvic tilt in neuromuscular disorders

The pelvic tilt is part of a complex deformity in which both the spine and the hip are involved. By viewing the different planes and analyzing the deforming forces, four different types of pelvic tilt in combination with spinal and hip deformities can be identified. In spina bifida patients congenital deformities of the spine may add to the progression of scoliosis. Analyzing our own patients we found that certain types of pelvic tilt can be related to certain neuromuscular diseases. Moreover our results show that the pelvic tilt can be effectively corrected by spinal surgery, whereas no effect of hip surgery could be demonstrated.     

Anterior chest wall deformities and congenital heart disease

Pectus excavatum and pectus carinatum usually exist as isolated abnormalities. Only 19 cases of associated congenital heart defects have been reported. Significant complications related to uncorrected pectus excavatum have been described either during or after cardiac operations. Therefore we reviewed our experience with these coexisting lesions to assess the risk of surgical repair of chest wall deformities before and after correction of congenital cardiac anomalies. Among 20,860 infants and children with congenital heart disease seen at our institution, 36 (0.17%) had associated anterior thoracic deformities, 22 of whom underwent surgical correction of pectus excavatum or pectus carinatum. Ten of these 22 patients had pectus repair after a cardiac operation. Pleural or pericardial entry was avoided in all and none required a blood transfusion. Ten other patients had pectus repair either before cardiac repair (five patients) or without a subsequent cardiac operation. Another patient had a cardiac operation performed through a median sternotomy both before and after pectus repair, and the remaining patient, early in the series, had simultaneous banding of the main pulmonary artery and repair of pectus excavatum complicated by chest wall instability and a lethal intrathoracic hemorrhage. The experience indicates that congenital chest wall deformities can be safely and effectively repaired after early correction of congenital heart defects through a median sternotomy, although repair of the chest wall deformity after cardiac surgery also gives good results. However, in children who require an extracardiac conduit for repair of their congenital heart defect, we recommend initial repair of the pectus excavatum followed at 6 weeks or later by repair of the cardiac lesion to eliminate possible extrinsic compression of the conduit by the depressed sternum. We avoid simultaneous cardiac and pectus excavatum repair because of potential associated major complications.     

Spinal anaesthesia in a child with hypoplastic left heart syndrome

Hypoplastic left heart syndrome (HLHS), a complex congenital heart disease, is the most common lethal cardiac defect in neonates. Its treatment includes cardiac transplantation and/or surgical palliation. Associated extracardiac congenital abnormalities are exceptional. We report the case of a neonate with HLHS and anorectal atresia who required urgent surgical management to relieve intestinal obstruction. The surgery was successfully performed under spinal anaesthesia.     

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.     

Risk factors for thoracic and spinal deformities following lung resection in neonates,infants, and children

Purpose

We aimed to identify the risk factors for thoracic and spinal deformities following lung resection during childhood and to elucidate whether thoracoscopic surgery reduces the risk of complications after lung resection.

Methods

We retrospectively examined the medical records of all pediatric patients who underwent lung resection for congenital lung disease at our institution between 1989 and 2014.

Results

Seventy-four patients underwent lung resection during the study period and were followed-up. The median age of the patients at the time of surgery was 5 months (range 1 day–13 years), and 22 were neonates. Thoracotomy and thoracoscopy were performed in 25 and 49 patients, respectively. Thoracic or spinal deformities occurred in 28 of the 74 patients (37%). Univariate analyses identified thoracotomy, being a neonate (age: <1 month) at the time of surgery, and being symptomatic at the time of surgery as risk factors for these deformities. However, a multivariate analysis indicated that only thoracotomy and being a neonate were risk factors for deformities.

Conclusions

Thoracoscopic surgery reduced the risk of thoracic and spinal deformities following lung resection in children. We suggest that, where possible, lung resection should be avoided until 2 or 3 months of age.

     

Congenital scoliosis

Congenital scoliosis is the most frequent congenital deformity of the spine. Congenital curvatures are due to anomalous development of the vertebrae (failure of formation and/or segmentation). Congenital scoliosis is believed to be related to an insult to the fetus during spine embryological development, and associated malformations (heart, spinal cord, kidney.) are frequently observed. A perfect understanding of the natural history of the deformity and the treatment principles will allow best management of these complex spine deformities. New imaging techniques like three-dimensional computed tomography (CT) and magnetic resonance imaging (MRI) are important tools for analyzing the underlying deformity and understanding the evolution of the complex deformities. The mainstay of treatment is either observation or, in case of curve progression (>10 degrees /year), surgery. Different surgeries are described with two main principles: (1) prophylactic surgeries like hemiepiphysiodesis or in situ fusions that will prevent worsening or allow progressive correction over time, and (2) corrective surgeries, with spinal fusion with or without spinal resection. Exceptional procedures (e.g. spinal column resection or halo distraction) can be attempted in cases of very severe deformity. Congenital curves must be carefully observed to choose the least invasive procedure at the right time and to minimize spinal cord risks.     

Spinal cord monitoring in patients with nonidiopathic spinal deformities using somatosensory evoked potentials.

Seventy-nine somatosensory evoked potentials were intraoperatively recorded in 52 patients undergoing spinal surgery for nonidiopathic spinal deformities. There were 37 true-negative, 28 true-positive (a significant change in the somatosensory evoked potential related to the surgical process), and 14 false-positive (a significant change in the somatosensory evoked potential not related to a surgical event) readings. There were, however, no postoperative neurologic deficits with any of the true-positive readings and no false negatives. Spinal and subcortical somatosensory evoked potentials gave few false-positive readings. True-positive somatosensory evoked potentials occurred in 44% of the patients with neuromuscular deformities, 17% with congenital deformities, 45% with Luque instrumentation, 22% with Harrington instrumentation, and none with fusion in situ. Fifty percent of the true positives occurred while the sublaminar wires were tightened. The predictive accuracy of intraoperative spinal cord monitoring in this patient population is not high, but the sensitivity to potentially harmful surgical events is high.     

Occult intraspinal anomalies in congenital scoliosis

Thirty consecutive patients with congenital spinal deformity underwent magnetic resonance imaging (MRI) to determine the incidence of occult intraspinal anomaly. These congenital spinal deformities included 29 cases of congenital scoliosis and one case of congenital kyphosis. Physical examination findings and plain radiographs were reviewed in an attempt to correlate these findings with subsequent intraspinal pathology. Nine patients had intraspinal anomalies identified on MRI consisting of five with tethered cord, four with syringomyelia, three with lipoma, and one with diastematomyelia. One patient required surgery for diastematomyelia; another underwent release of his tethered cord. Only one patient, with diastematomyelia associated with a syrinx and bifocal tethering, had his anomaly suggested by physical examination and plain radiographs. Two other patients had findings on plain radiographs previously associated with high prevalence of occult intraspinal anomalies; one patient with congenital kyphosis had a tethered cord, and one patient with a unilateral hemivertebrae associated with a contralateral bar had a tethered cord. Two of nine patients with occult intraspinal anomalies required surgery for their anomaly. In patients with a congenital spinal deformity, we found nine (30%) of 30 to have an associated anomaly within the spinal canal. Only three of these nine had plain radiographs and physical examination findings suggestive of their subsequent MRI findings. Given the poor correlation between findings on physical examination, plain radiographs, and subsequent occult intraspinal anomalies on MRI, we believe that MRI is helpful in evaluating patients with congenital spinal anomalies.     

Anaesthesia for cardiac surgery in children with nemaline myopathy

Nemaline myopathy is a rare congenital myopathy associated with skeletal deformities and respiratory complications. Three children with nemaline myopathy who underwent cardiac surgery are described where the heart rate decreased during induction of anaesthesia and body temperature increased during or after the surgery. The anaesthetic implications in the management of patients with nemaline myopathy are discussed.     

Evaluating congenital spine deformities for intraspinal anomalies with magnetic resonance imaging.

SUMMARY: The incidence of intraspinal abnormalities associated with congenital spinal anomalies as detected by magnetic resonance imaging (MRI) is becoming better defined. In this study, 41 nonrandomized children with congenital spinal deformities (excluding myelomeningocele) who underwent complete MR evaluation were reviewed. Of the 41 congenital spinal deformities, 37 demonstrated congenital scoliosis, with failure of formation in 19, failure of segmentation in 4, and mixed defects in 14. The remaining four deformities were cases of congenital kyphosis. Thirteen patients with congenital spine anomalies were noted to have intraspinal abnormalities identified by MRI: tethered cord in 12 patients, syringomyelia in 3 patients, and diastematomyelia in 5 patients. Of the 12 patients with tethered cord, 2 patients had neurologic deficits. Urorectal anomaly was one of the most common associated findings (15%). Considering an incidence of intraspinal anomalies of 31% and as clinical manifestations may not be initially detectable, MRI is recommended in patients with congenital spinal deformity as part of the initial evaluation even in the absence of clinical findings.     

Prinzipien der operativen Behandlung hochthorakaler und zervikothorakaler Kyphosen

Idiopathic upper thoracic and cervicothoracic kyphoses are rare. More frequently they are the consequence of spinal instability as in neurofibromatosis (von Recklinghausen's disease), after laminectomies, in tumors, congenital disorders, spondylodiscitis, and fractures. Neurologic problems with severe pareses complicate these deformities. Anterior bone loss (fracture, tumor, spondylodiscitis), posterior instability (post-laminectomy kyphosis) or a combination of both are responsible for the deformity. The operative treatment of the anatomically unfavorable localization requires great experience in spinal surgery; the procedures often are salvage surgeries. In the absence of a successful conservative treatment, early posterior/anterior or anterior/posterior reconstruction of the sagittal profile with primary stable implants is necessary to minimize the risk of renewed surgery. Transplantation of stable bone grafts such as the fibula is a precondition for postoperative treatment without external support. The indication is restrictive in the presence of malignant primary and secondary tumors with poor prognosis. Restitution of existing neurologic deficits is unpredictable.     

Surgical correction of spinal deformities after solid organ transplantation in childhood

A review of the current literature reveals no systematic analyses of the results of surgical correction of spinal deformity after pediatric organ transplantation. We therefore evaluated clinical and radiographic outcomes of spinal deformity correction after solid organ transplantation in childhood and adolescence. All 211 cases of heart, liver, and kidney transplantations performed in children in our country were reviewed. Six patients had undergone surgical correction of spinal deformity at a mean age 14.6 (range 12–17) years. Clinical data of the patients were evaluated. Radiographs of the whole spine were taken preoperatively, immediately after, at 2-year, and final follow-up visits. The Scoliosis Research Society (SRS) questionnaire was completed and a physical examination was performed at the final follow-up visit. The mean follow-up after spinal surgery was 4.9 years (range 2–7.6 years). Four patients developed scoliosis after organ transplantation without any evidence of scoliosis prior to organ transplantation. One patient with congenital scoliosis was operated on after kidney transplantation. One boy had osteoporosis and severe local kyphosis due to vertebral compression fractures. Four patients underwent anterior and posterior surgery, two posterior only. The mean preoperative Cobb angle of the thoracic curve was 54° (range 42–69°) in the patients with scoliosis. The postoperative values were 30° (26–38°) immediately after instrumentation and 39° (34–42°) at the final follow-up visit. The patient with vertebral compression fractures and progressive kyphosis had 70° curve before surgery, 23° immediately after the operation, and 60° at the final check up. The mean total score on the SRS questionnaire was 95.5 (range 90–101). There is a relatively high incidence (2.8%) of spinal deformities needing operative treatment after solid organ transplantation. Possible etiologies for spinal deformities are growth disturbance and muscle weakness due to the basic disease. The other important factors are related to immunosupressive medication, especially glucocorticoids needed after transplantation. Primary correction of these deformities was satisfactory, but during follow-up, a certain amount of recurrence of the curves was evident. Poor bone quality may explain some of the loss of correction.     

先天性心脏病的染色体研究

目的：通过对先天性心脏病合并其他畸形患者的染色体研究试图揭示其与染色体改变的内在联系。方法;对复杂先天性心脏病19例,房,室间隔缺损20例,法乐四联征12例,马凡氏综合征2例,室间隔缺损并心外畸形5例等共58例先天性心脏病患者取外周血5ml进行培养,高分辨G带染色,高倍镜下分析染色体的畸变情况。结果：在58例先天性心脏病患者中有19例有不同的染色体畸变,占32．8％,其中,22号染色体的微缺失占9例,21三体型3例,46,XX型2例,4号染色体长臂缺失2例,其他3例。结论：22q11微缺失是先天性心脏病患者最常见的染色体改变,复杂先天性心脏病患者的染色体改变检出率要明显高于一般的先天性心脏病病例。     

The induction of congenital spinal deformities in mice by maternal carbon monoxide exposure

Carbon monoxide (CO) has been shown to be teratogenic in mice. High altitude hypoxia has also been shown to induce congenital vertebral anomalies in mice. The purpose of this study was to investigate the effect of maternal hypoxia owing to CO exposure and the production of congenital spinal deformities in the offspring. Sixty DBA-1J mice were bred using polygamous timed breeding methods. Pregnant females were exposed to 200, 400, or 600 ppm CO using a custom-designed gas blender system. Seven-hour exposures were performed on day 8.5, 9.5, or 10.5 of the 21-day gestation cycle. The neonates were euthanized at birth; the specimens were fixed, eviscerated, and radiographed. Congenital spinal deformities were observed (wedge, hemi, fused, and missing vertebrae; fused ribs) and were located in all regions of the spine. There was a statistically significant difference in the number of spinal deformities between all groups, with no defects in the controls and a 77% incidence at 600 ppm (p < 0.0001). There was no apparent correlation between the time of exposure and defect location. The most sensitive time of gestation was 9.5 days. We identified an animal model of congenital spinal deformities that compares favorably with the evidence of human congenital spinal deformities in cases of maternal exposure to CO and other gas and chemical fumes.     

Surgical treatment of advanced congenital scoliosis with the C-D method]

The paper presents the results of surgical treatment of 15 cases of congenital scolisios with CD instrumentation. Progression of the deformity was most often seen in cases with combined deformities (according to the McMaster classification). Indications for surgical treatment were progression of the curvature and trunk and thorax deformity progression, particularly during the growth spurt. The age at the time of surgery ranged from 10.3 to 16 years (average: 13.8 years). Follow-up period ranged from 2 to 8 years (average: 4 years). Intraoperative deformity correction ranged from 0 to 60% (average 32%). Loss of correction during follow up ranged from 0 to 3%. The overall silhouette improvement was a result of correction of the spine curvature, correction of thoracic hyperkiphosis and a decrease of trunk decompensation. The only complications noted were 3 cases of transient neurological symptoms from the lower extremities. Preoperative MRI allows detection of congenital deformities of the spinal canal, a contraindication for surgical correction of the deformity with spinal implants.     

An experimental study on the development of congenital spinal deformity--with special reference to the occurrence and significance of disc anomaly]

This is a histopathological study in mice, using the tail segment of the vertebral column, to investigate the role of intervertebral disc anomalies in the development of congenital spinal deformities. The study was conducted on 222 embryos and 169 postnatal CTT (Crooked-Tailed Toden) mice, a ddY strain with hereditary crooked tails. The earliest detectable anomaly was a serpiginous deformation of the notochord during the notochord stage. Irregular lamination of dense and sparse cell layers of the sclerotome during the membrane stage followed. Then vertebral body and intervertebral disc anomalies clustered around the abnormal notochord, failing to appear separately during the cartilage stage. It was concluded that anomalies of the vertebral body do not appear independently but occur simultaneously with those of the intervertebral disc in the development of congenital spinal deformities. Disc and vertebral body anomalies appear to have equal significance in the pathogenesis of congenital spinal deformities.     

Segmental vessel ligation in patients undergoing surgery for anterior spinal deformity

Segmental vessel ligation during anterior spinal surgery has been associated with paraplegia. However, the incidence and risk factors for this devastating complication are debated. We reviewed 346 consecutive paediatric and adolescent patients ranging in age from three to 18 years who underwent surgery for anterior spinal deformity through a thoracic or thoracoabdominal approach, during which 2651 segmental vessels were ligated. There were 173 patients with idiopathic scoliosis, 80 with congenital scoliosis or kyphosis, 43 with neuromuscular and 31 with syndromic scoliosis, 12 with a scoliosis associated with intraspinal abnormalities, and seven with a kyphosis. There was only one neurological complication, which occurred in a patient with a 127 degrees congenital thoracic scoliosis due to a unilateral unsegmented bar with contralateral hemivertebrae at the same level associated with a thoracic diastematomyelia and tethered cord. This patient was operated upon early in the series, when intra-operative spinal cord monitoring was not available. Intra-operative spinal cord monitoring with the use of somatosensory evoked potentials alone or with motor evoked potentials was performed in 331 patients. This showed no evidence of signal change after ligation of the segmental vessels. In our experience, unilateral segmental vessel ligation carries no risk of neurological damage to the spinal cord unless performed in patients with complex congenital spinal deformities occurring primarily in the thoracic spine and associated with intraspinal anomalies at the same level, where the vascular supply to the cord may be abnormal.