Occult spinal dysraphism in patients with anal agenesis

Recent reports have suggested an association between congenital anorectal anomalies and occult spinal dysraphism. Eighty-seven patients with anal agenesis have been treated at this institution over the last 14 years. Two of these patients had spinal cord anomalies recognized at birth (a myelomeningocele and a tethered spinal cord). Two additional patients presented with progressive neurologic deficits in early childhood and were each found to have a tethered spinal cord. To further assess the magnitude of this problem, we have used magnetic resonance imaging (MRI) of the spine to survey prospectively 23 infants with anal agenesis. Twenty-one former patients who were asymptomatic were recalled and also studied. Four of 44 patients (9%) were found to have significant occult spinal dysraphism; each child had undergone neurosurgical operation without morbidity. MRI found each child to have a tethered spinal cord, either as an isolated lesion (2) or in association with a syrinx (1) or lipomyelomeningocele (1). One of these patients had a neurologic deficit detected on careful preoperative evaluation. The other three, two of whom were less than 2 years old, had no detectable deficit. Neither the extent of the anorectal malformation, the absence of associated congenital anomalies, nor the demonstration of normal vertebral anatomy on plain radiographs of the spine precluded the presence of occult spinal dysraphism. Therefore, we recommend that all patients with anorectal anomalies undergo MRI imaging of their spines during initial evaluation to screen for occult spinal dysraphism. In addition, consideration should be given to recalling older patients for MRI evaluation.     

Magnetic resonance imaging as an adjunct to planning an anorectal pull-through

Magnetic resonance imaging (MRI) is a relatively new diagnostic tool that generates images of sections of the body taken in any plane. We report the use of MRI as a tool to plan surgical procedures in patients with imperforate anus, imaging the pelvis and lumbosacral spine in the sagittal, transverse, and coronal planes. MRI clearly reveals the extent of the pelvic musculature even in patients with severe sacral agenesis. MRI is extremely useful in assessing patients under consideration for reoperation, clearly demonstrating the relationship between the pulled through colon and the "striated muscle complex." A very useful addition is the ability, on the same study, to detect previously unsuspected anomalies such as tethered cord, lipoma of the filum terminale, and renal dysplasia. We conclude that MRI is a very useful examination in selected patients with imperforate anus.     

Screening for latent malformations: cost effectiveness in neonates with correctable anomalies

A screening program for latent malformations in infants born with surgically correctable anomalies was reviewed to determine its cost effectiveness. Two hundred and seventy six infants with esophageal atresia, imperforate anus, omphalocele, gastroschisis, or diaphragmatic hernia were screened for latent congenital anomalies not detected by the routine history, physical examination, and roentgenograms. While additional malformations were detected, many congenital defects were missed only to become evident later in the infant's course. Routine screening for latent malformations is not cost effective in all infants with surgically correctable anomalies, but directed screening is indicated in selected neonates. Screening IVP's are indicated in patients with esophageal atresia, high pouch imperforate anus and possibly diaphragmatic hernia. Screening IVP's are not indicated in infants with gastroschisis, omphalocele, or females with low pouch imperforate anus who have normal sacral spine films.     

Routine MRI evaluation of low imperforate anus reveals unexpected high incidence of tethered spinal cord

Background/Purpose: Previous clinical practice has included evaluation for the presence of tethered cord in those children who have imperforate anus with a high lesion. To define the incidence in children with low lesions, the authors reviewed their experience with a protocol employing routine magnetic resonance imaging (MRI), regardless of the level of the lesion, to determine the presence of a tethered cord in all children with imperforate anus. Methods: A retrospective review of children with imperforate anus was conducted over the last 13 years at our institution. Lesions were categorized as high versus low based on the supralevator or infralevator position of the fistula. Results: Sixty-three patients completed evaluation for a tethered cord. Twenty-two (34.9%) of these 63 patients had a tethered cord: 11 of 41 (26.8%) patients with high lesions and 11 of 22 (50.0%) of those with low lesions. Of those children with a low lesion, 83% of the boys had a tethered cord, whereas 38% of the girls had a tethered cord. Forty-five percent of the patients with low lesions and a tethered cord did not have any other lumbosacral anomalies. All 22 children with a tethered cord underwent surgical release. Conclusions: The incidence of tethered cord in children with low lesions of imperforate anus is not lower than those with high lesions. The authors advocate early evaluation of all children with imperforate anus for a tethered cord. J Pediatr Surg 37:966-969.     

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.     

Sacral anomaly and pelvic floor muscle in imperforate anus: a clinical and experimental study

Influences of sacral anomalies on the postoperative continence of imperforate anus were evaluated clinically and experimentally. Postoperative continence was clinically assessed by the quantitative scoring system for 77 patients (44 of high-type anomalies and 33 of low-type anomalies). Incidence of combined sacral anomalies was 28.6% (38.6% in high type anomalies and 15.2% in low type anomalies). Combined sacral anomalies had harmful effects on the postoperative defecational function, especially on the parameters of rectal sensation and soiling. Patients with more than four segments of sacral vertebrae had relatively satisfying results on the postoperative assessment. For a teratological study to obtain a model of sacral anomalies, Donryu rats were used. Trypan blue was injected as the teratogen intraperitoneally on the nineth day of gestation. Of the 198 live fetuses, 5 rats had tail defect and sacral anomalies. Two of the 5 anomalous rats also had imperforate anus. Four of 5 rats had vertebrae intact above the first sacral segment. In these 4 rats the pelvic floor muscles had developed to some degree. All the vertebrae were agenetic below the thoracic segments in the other rat fetus. This rat had no pelvic floor muscles. These studies showed that the severity of sacral anomalies had a relationship to postoperative continence. Intact sacral vertebrae above the 4th in humans and the 1st in rats correlated with fair development of pelvic floor muscles and satisfying postoperative continence.     

Use of MRI in evaluation of anorectal anomalies

Congenital anorectal anomalies present with a wide spectrum of anatomical deformity. The level of atresia, the extent of the development of the pelvic musculature, and the presence of associated anomalies all greatly influence treatment options. Further complexity may be introduced by previous attempts at correction. Magnetic resonance imaging (MRI) recently has been suggested as an effective tool in evaluation of such patients for surgical repair. Thirteen patients undergoing evaluation for either primary or secondary operations for imperforate anus were studied with MRI. Age range was newborn to 26 years. These patients had anorectal deformities in various stages of treatment--from newly diagnosed imperforate anus in the newborn to patients who had undergone previous surgical repair of their deformity with poor results. In newborns, MRI was very useful in assessing the level of atresia and determining whether perineal repair was advisable. In older patients with high atresias, MRI was useful in planning operative strategy and predicting the outcome by providing information about the pelvic musculature. This information was directly related to the size of the patient, ie, the larger, and therefore the older the patient, the more detail MRI provided about the pelvic musculature. Especially in secondary cases, this information proved to be helpful in determining the cause of the initial failure, ie, lack of adequate pelvic musculature or poor placement of the distal colon in relation to the striated muscle complex at the initial operation. MRI demonstrated previous unsuspected lesions such as tethered cord, sacral deformity or urinary tract abnormalities.(ABSTRACT TRUNCATED AT 250 WORDS)     

The use of routine preoperative magnetic resonance imaging in identifying intraspinal anomalies in patients with idiopathic scoliosis: a 10-year review

Purpose

This study sought to quantify the frequency of previously unidentified spinal cord anomalies identified by routine preoperative magnetic resonance imaging (MRI), in patients planned for surgical scoliosis correction.

Methods

Our study group comprised 206 patients with idiopathic scoliosis who underwent deformity correction from 1998 to 2008. Clinical records of all the patients were retrospectively reviewed to ascertain the proportion having a neural abnormality on preoperative MRI scan.

Results

Twenty of 206 patients (9.7 %) were diagnosed with an unexpected intraspinal anomaly on routine preoperative MRI. In all cases, a neurosurgical opinion was sought prior to further intervention. Of the 20 patients, 11 underwent a neurosurgical procedure (de-tethering of cord, decompression of Chiari, decompression of syrinx). There was no statistically significant difference between the group of patients who had intrinsic spinal cord anomalies on preoperative MRI and those did not have a cord abnormality with regard to age at presentation, gender, side of dominant curve and degree of curve (p < 0.05).

Conclusion

The high frequency of spinal cord abnormalities unidentified by preoperative neurological examination, and the frequent need for subsequent neurosurgical intervention, suggests that MRI assessment prior to deformity correction is important in the management of idiopathic scoliosis.     

Predictive value of spinal bone anomalies for spinal cord abnormalities in patients with anorectal malformations

Aim: To evaluate the correlation between sacral/vertebral anomalies and spinal cord anomalies (SCA) on MRI, in patients with anorectal malformation (ARM).Methods: Patients with ARM consecutively treated between January 1999 and August 2019 were included. Radiological imaging of sacrum and spine were retrospectively analyzed and correlated to the presence of SCA at MRI. Fisher's exact test and X² test were used as appropriate; p<0.05 was considered statistically significant.Results: 348 patients with ARM were enrolled in the study, 147 presented SCA at MRI. 144 patients showed spinal bone anomalies, isolated vertebral and sacral anomalies were found in 17,6% and 35% respectively.Higher level of ARM was associated with a significant higher prevalence of sacral and vertebral anomalies. A significant correlation was found between the “level” of ARM and the presence of SCA (p<0.05). Sacral anomalies were significantly correlated with the presence of SCA at MRI (p<0.05). SCA were found in 70% of patients with vertebral anomalies (VA) and in 76% of patients with sacral anomalies. The presence of multiple malformations (vertebral and sacral anomalies) are strictly related to the presence of SCA. However, the absence of spinal bone anomalies does not exclude the presence of SCA. SD was the most represented type of SCA (n=94/147), of those 96% had fatty filum. Neurological or neurourological symptoms were detected in 11,5% patients (n=17) with SCA and required neurosurgical intervention.Conclusions: Our data confirm the strong relation between sacral or vertebral anomalies and SCA. However, in our series also patients without sacral/vertebral anomalies had SCA at MRI. Our results suggest that, despite the presence or absence of spinal anomalies, spinal cord MRI should be performed in all children with ARM, to allow a correct multidisciplinary follow-up and treatment. In fact, most patients with spinal bone and SCA are asymptomatic, but could develop clinical manifestations during their growth.     

Vascular malformations of the spinal cord and dura

Current techniques of diagnosis and treatment allow for earlier detection, precise delineation of the vascular anatomy, and, most important, successful treatment of most patients with spinal AVMs. Magnetic resonance imaging is useful in the initial assessment of patients with progressive myelopathy but cannot replace myelography or arteriography in screening patients who may have a spinal AVM. The most common variety of spinal AVM is a dural arteriovenous fistula. Dural arteriovenous fistulas cause cord injury by producing venous congestion, and symptoms can be reversed by elimination of venous congestion of the spinal cord. Dural arteriovenous fistulas can be treated successfully by interrupting the arteriovenous fistula either in the dura or by disconnecting the dural fistula from the coronal venous plexus in the subarachnoid space. This can be done by interrupting the medullary vein that drains the arterial blood from the dural fistula into the coronal venous plexus of the spinal cord. Stripping of the engorged venous network on the surface of the spinal cord is unwarranted and may cause further cord injury. In dural arteriovenous fistulas embolization is often beneficial in patients with acute neurologic deterioration, to permit time for stabilization and improvement in spinal cord hemodynamics and in cord function before neurosurgical intervention is undertaken. Embolization also may be indicated in patients with intradural spinal AVMs in which surgery cannot be performed safely. Although embolic occlusion does not permanently occlude most intradural AVMs, it often permits stabilization of neurologic function and may be repeated later if neurologic dysfunction returns or progresses. Although the outcome after treatment is dependent on the type and location of the spinal AVM, as in most treatable neurologic disorders the functional outcome of patients with spinal AVMs is directly related to their neurologic condition at the time of treatment. Patients with minimal dysfunction, and with easily accessible AVMs, such as dural arteriovenous fistulas, have the greatest chance for useful recovery or stabilization. Since these patients represent the largest number of patients with spinal AVMs, they must be diagnosed and treated early to achieve the best possible outcome.     

Advanced imaging of the cervical spine and spinal cord in 22q11.2 deletion syndrome: age-matched, double-cohort, controlled study

Purpose  The 22q11.2 deletion syndrome is a common genetic syndrome with a wide spectrum of abnormalities. We have previously described multiple anomalies of the upper cervical spine in this disorder. The objective of this study was to use advanced imaging to further define the morphology of the cervical spine and spinal cord in the 22q11.2 deletion syndrome, with a comparison to age-matched controls. Methods  A total of 32 patients with a 22q11.2 deletion underwent advanced imaging (computed tomography/magnetic resonance imaging; CT/MRI) of the cervical spine. In 27 patients, space available for the cord (SAC); the sagittal diameter of the vertebral body, spinal canal, cerebrospinal fluid (CSF), and spinal cord; and the cross sectional area of the spinal canal, CSF, and spinal cord were measured at each cervical level and compared to 29 age-matched controls. Statistical analysis was performed and potential implications were hypothesized. Results  In 22q11.2 patients, advanced imaging identified 40 pathologies not evident on plain radiographs with potential mechanical and/or neurological implications. These patients also had significantly smaller values (P ≤ 0.05) of the following parameters at one or more cervical levels, relative to age-matched controls: width of the vertebral body, spinal canal, CSF, and spinal cord; area of the spinal canal, CSF, and spinal cord. Neurologic symptoms were observed in 4/32 patients, with one patient requiring surgical intervention. Conclusions  Advanced imaging of the cervical spine can detect findings not evident on plain radiographs in the 22q11.2 deletion syndrome. CT and/or MRI may be indicated when there is a high index of suspicion for clinical instability or neurologic compromise in order to rule out dynamic encroachment or impending neurologic sequelae. Spinal canal and spinal cord dimensions are reduced in these patients relative to controls with currently unknown clinical significance.     

Traumatic division of the spinal cord demonstrated by magnetic resonance imaging. Report of two cases

Magnetic resonance imaging (MRI) of the spine is a new imaging technique that allows greater visualization of the spinal cord than other imaging modalities. This article reports on two cases of traumatic division of the spinal cord demonstrated by MRI. Both patients had complete transection of the spinal cord and did not have neurologic functional recovery distal to the spinal cord transection. MRI is applicable to diagnosis in acute conditions and to reveal division of the spinal cord, allowing prediction of an unlikely chance of neurologic recovery.     

Clinical value of routine preoperative magnetic resonance imaging in adolescent idiopathic scoliosis. A prospective study of three hundred and twenty-seven patients

BACKGROUND: The prevalence of intraspinal pathology associated with scoliosis has been reported to be as high as 26% in some series, and, on the basis of this finding, preoperative magnetic resonance imaging is used in the screening of patients with adolescent idiopathic scoliosis. However, this practice continues to be highly controversial. In order to better resolve this issue, we performed what we believe to be the largest prospective study to evaluate the need for preoperative magnetic resonance imaging in patients with adolescent idiopathic scoliosis requiring arthrodesis of the spine. METHODS: A total of 327 consecutive patients with adolescent idiopathic scoliosis were evaluated between December 1991 and March 1999. All patients in the study presented with an adolescent idiopathic scoliosis curve pattern and had a complete physical and neurologic examination. Magnetic resonance imaging of the brain and the spinal cord were performed as part of their preoperative work-up. RESULTS: Seven patients had an abnormality noted on magnetic resonance imaging. These abnormalities included a spinal cord syrinx in two patients (0.6%) and an Arnold-Chiari type-I malformation in four (1.2%). One patient had an abnormal fatty infiltration of the tenth thoracic vertebral body. No patient required neurosurgical intervention or additional work-up. All patients who underwent spinal arthrodesis with segmental instrumentation tolerated the surgery without any immediate or delayed neurologic sequelae. CONCLUSIONS: The fact that magnetic resonance imaging did not detect any important pathology in the large number of patients in this study strongly suggests that magnetic resonance imaging is not indicated prior to arthrodesis of the spine in patients with an adolescent idiopathic scoliosis curve pattern and a normal physical and neurologic examination.     

Intraoperative somatosensory evoked potential monitoring in scoliosis

During surgical correction of scoliosis, 63 patients had somatosensory evoked potential (SEP) monitoring of the spinal cord. Tibial nerves were unilaterally stimulated, and the potentials were recorded from the midcervical spine with surface and epidural needle electrodes. Over 85% had no significant change in their SEP and no postoperative neurologic deficits. Eleven percent had a significant change in their potential (amplitude decrease of greater than 60% and/or latency increase of greater than 2.5 msec) with no neurologic complications. One patient had a significant potential change and temporary postoperative sensory deficits did occur. One additional patient experienced postoperative neurologic complications but had no SEP change. This single false negative case, however, was clinically significant only for motor dysfunction, which is not monitored by the SEP. When changes in patient core temperature were compared to changes in SEP amplitude and latency, an intraoperative decrease in core temperature increased SEP latency and decreased amplitude, which may explain in part the false positive rate of the procedure.     

Spine duplication or split notochord syndrome – case report and literature review

Context: Spine duplication is a rare condition, with various extents and severe additional anomalies. The goal of this study was to describe a unique case of a boy with split notochord syndrome who was followed up from birth until maturity.

Findings: Physical examination at birth showed defects of the abdominal wall and cloacal exstrophy with visible urether outlets. A transposed anus was present in the perineal region. Split bony elements of the spine with nonpalpable sacral bone were noted. A soft, skin-covered lump, with the consistency of a lipoma, was present in the sacral area. There was asymmetry of the lower limbs: the left was hypoplastic, with a deformed foot and hip. Computed tomography revealed a normal shape of the Th12 and L1 vertebrae, whereas the L2 was split. Downward from L3, there were two vertebrae at each level, with two spinal canals. The spinal cord divided into two “semicords” at the level of L1. Neurologic status and the shape of the spine remained unchanged during puberty. The last follow-up was performed at the age of 18 years. He managed to walk independently in prosthesis with visible limping.

Conclusion: Spine deformities are always suspected in neonates with lipoma in the sacral region, which may sometimes be serious. Walking ability and quality of life depend on neurologic deficits; even with long duplication and double sacrum, walking can be a feasible option.     

Combined posterior sagittal and three-flap anoplasty in the repair of anorectal anomalies

PURPOSE: The aim of this study was to describe a new technique for the repair of high and intermediate imperforate anus. METHODS: From 1989 to 1999, 22 children with high and intermediate imperforate anus (17 boys, 5 girls) were operated on with a combination of a posterior sagittal and 3-flap perineal anoplasty. Long-term clinical follow up (to a maximum of 10 years) was done in all patients as well as a recent phone interview with a questionnaire regarding bowel function and degree of satisfaction with the result of the surgical correction. A continence ratio (CR, patient score/maximum possible score) was obtained by a blinded interviewer. RESULTS: A continence survey was obtained in 19 patients. The average CR was 0.68. The CR for high anomalies was 0.62 and for intermediate anomalies was 0.78 (0.84 for girls and 0.64 for boys). Patients with sacral anomalies had a CR of 0.58. Two patients with Trisomy 21 had associated Hirschsprung's disease and were excluded from analysis. CONCLUSIONS: Advantages of this combined surgical approach are excellent anatomic exposure, the ability to limit rectal mobilization to a minimum, reduction of the incidence of mucosal prolapse, the new skin-lined anal canal may assist attainment of continence by providing a "sensory warning zone," and, finally, the cosmetic appearance is satisfactory.     

Sacral nerve stimulation in the treatment of bowel dysfunction from imperforate anus: A case report

IntroductionBowel dysfunction (fecal incontinence and constipation) presents in over 50% of patients after treatment of congenital anal malformations. Sacral nerve stimulation (SNS) for the treatment of fecal incontinence improves function in the majority of patients. We present a case report of the treatment of bowel dysfunction with sacral nerve stimulation in a patient with a history of an imperforate anus.Presentation of caseA twenty year-old female with a history of imperforate anus at birth, repaired during infancy with anorectoplasty, presented with fecal incontinence and constipation. Since childhood, she had been suffering from intermittent constipation with worsening fecal incontinence in early adulthood. Examination revealed mild anal stenosis and mucosal prolapse. Endoanal ultrasound demonstrated intact internal and external sphincter with low resting and squeeze pressures on anal manometry. Flexible sigmoidoscopy was normal. The patient underwent permanent sacral nerve stimulation with a primary goal of improvement in continence and, secondarily, for the alleviation of intermittent chronic constipation.DiscussionAt 15 month follow-up, the patient had improvement in fecal incontinence (CCIS of 14 pre-SNS to 1 post-SNS), constipation (CCCS of 28 pre-SNS to 20 post-SNS), and quality of life (FIQOL improved in lifestyle (3.7), coping/behavior (3.4), self perception (3.9), and social embarrassment (4.5).ConclusionSacral nerve stimulation for the treatment of bowel dysfunction in adults secondary to imperforate anus can be performed safely and with good results.     

Sacral agenesis: usefulness of CT study

The authors report on a case of sacral agenesis evaluated by Computed Tomography (CT) of the spine. Sacral agenesis is an exceedingly rare, nongenetic, developmental anomaly which consists in an absence of the entire sacrococcygeal complex. Although maternal diabetes appears to be the most important etiologic factor, the significant teratogenetic effects related to maternal diabetes are not yet completely understood. Only few cases have been reported in neurological and neurosurgical literature because most authors believe that the neurological deficits associated with sacral agenesis are static and, therefore, myelography and surgical approach are useless. However, sacral agenesis can be surgically treated when dural sac stenosis is evident in presence of progressive neurological deficits. The usefulness of CT in depicting nervous anomalies which may favorably respond to surgical treatment is emphasized, in particular when compared with contrast myelography. CT scan seems able to replace contrast myelography in delineating the intraspinal nervous anomalies, thus avoiding the myelographic risks.     

Halo重力牵引在伴神经损害的严重上胸段角状后凸畸形矫形术前的应用

目的:探讨严重上胸段角状后凸畸形伴神经损害患者术前Halo重力牵引+脊柱后路矫形内固定术的矫形效果。方法:回顾性分析2010年1月至2019年12月行术前Halo重力牵引+脊柱后路矫形内固定术治疗的严重上胸段角状后凸畸形伴神经损害患者16例,男11例,女5例;年龄（12.9±5.6）岁（范围6~27岁）。牵引后、手术后...     

Use of magnetic resonance imaging in evaluating injuries to the pediatric thoracolumbar spine

Magnetic resonance imaging (MRI) of acute thoracolumbar spinal injuries allows excellent evaluation of the neurologic and soft tissue structures. Owing to recent advances in imaging techniques that permit greater spatial resolution and more detailed imaging of tissue, MRI now affords effective visualization of injury to the ligaments, intervertebral disk, bones, and spinal cord after spine trauma. Cord changes have been classified into three patterns that are predictive of clinical outcomes in adults with cord injuries. The value of MRI in evaluating pediatric patients with thoracolumbar injuries or in predicting their clinical outcome has not been assessed. After retrospectively reviewing 19 pediatric thoracolumbar fractures associated with neurologic deficits from three level 1 trauma centers, we conclude that MRI is the imaging modality of choice in these patients because it can accurately classify injury to bones and ligaments and because the cord patterns as determined by MRI have predictive value.