Bowel function after surgery for anorectal malformations in patients with tethered spinal cord

Tethered spinal cord (TC) is an anomaly frequently recognized in association with anorectal malformations (ARM). However, the influence of TC on bowel function in children with ARM remains unknown. Furthermore, there are few studies that have assessed anorectal function in children with ARM and TC. The aim of this study was to evaluate anorectal function in ARM patients with TC using clinical assessment and anorectal manometry. Among 258 patients with ARM, this retrospective investigation included 35 patients who underwent spinal magnetic resonance imaging (MRI) after surgery for ARM. The patients were divided into two groups based on the presence or absence of TC, and bowel function was assessed by Kelly’s clinical score and anorectal manometry. Tethered cord was found in nine of the 35 patients (26%) with ARM. Of the ARM patients, TC was noted in four of 11 (36%) with high type anomalies, one of 8 (13%) with intermediate type anomalies, two of 14 (14%) with low type anomalies, and two of two patients (100%) with cloacal anomalies. Kelly’s clinical score did not significantly differ between the two groups. However, two of the nine patients with TC had poor bowel function (Kelly’s score; 2–0 points). On the contrary, patients without TC did not have poor bowel function. Anorectal manometry did not show a significant difference between patients with and without TC. However, the two patients with TC who had poor bowel function by Kelly’s score had low anal resting pressure, which was essential for achieving fecal continence. In conclusion, the present study showed that tethered cord was more frequently found in patients with more severe anorectal anomalies. Patients with TC were more likely to have poor bowel function, but this did not reach statistical significance. Presented at the 14th International Paediatric Colorectal Club, York, UK, 14–16 July 2007.     

Three-flap anoplasty for imperforate anus: results for primary procedure or for redoes.

Three-flap anoplasty was first described in 1987 by Yazbeck for the treatment of rectal prolapse after pull-through operations for imperforate anus, and in 1992 in a case of anterior perineal approach. It is intended to reproduce the normal anatomy of a sensitive anal canal. The purpose of this study is to evaluate 14 children (9 boys and 5 girls) operated for imperforate anus. METHOD: Eleven children had an intermediate or high imperforate anus and 3 had a low imperforate anus. Nine were operated for the first time with a three-flap anoplasty (GrA), and 5 were reoperated with this technique because of fecal incontinence and/or rectal prolapse (GrB). Seven patients had associated malformations: one Hirschsprung's disease, one cloacal defect with renal insufficiency, three complex caudal malformations with tethered cord, one Down syndrome, and two psychological and psychomotor troubles. The patients (average age = 6 years) have been evaluated every year since 1997, with a questionnaire based on a clinical score validated with 30 healthy children, used as a control group. Ten anal manometries were carried out. RESULTS: In 1998, the GrA score was 16.1 (control = 22.5) and the GrB score was 11.5 (p = 0.25). In 1999, GrA and GrB score were approximately the same. The score of those without associated anomalies was 19.6 whereas the score of the children with other malformations or anomalies was 10 (p = 0.02). Anal manometry is almost normal in patients with low or intermediate imperforate anus (rectoanal relaxation reflex for 10 cm H2O, and basal resting pressure more than 40 cm H2O). Even though anal manometry is subnormal in patients with Down syndrome or psychomotor troubles, the clinical score remains low (score = 10). In cases of complex caudal malformations or high imperforate anus, the results of anal manometry and clinical score are bad (score 9.7). CONCLUSION: The three-flap anoplasty can be carried out in newborns without colostomy and often represents the only possible surgical approach to avoid a laparotomy. This plasty, proposed secondarily to correct a defect of continence, can be performed without colostomy, with satisfactory results.     

Perineal-mound defects

Perineal-mound (PMD) and genital-fold defects cause anorectal malformations (ARM) in both sexes. They are common in females and usually present as a low anomaly (except rectovestibular fistula). They are rare in males and present as an intermediate anomaly. A common embryological explanation for these defects with varied presentation in males and females is discussed. These anomalies should be grouped separately in the classification of ARM. We present five male patients with PMD, three of whom had imperforate anus with rectobulbar fistula and perineal hypospadias and two who had imperforate anus with rectoperineal fistula. Accepted: 17 August 1998     

Associated anomalies with anorectal malformation (ARM)

Objective : To find the prevalence of associated anomalies in children with anorectal malformation (ARM).Methods: One hundred and forty patients (80 males and 60 females) with expand were studied to detect associated anomalies and to find their prevalence. High and low type of ARM was seen in 52.14% and 47.86% of patients respectively. Associated anomalies were more common with high type of ARM (78.08%) than in patients with low type of ARM (37.31%). 58.57% patients had associated anomalies which included those of urinary system (37.14%), vertebral system (34.28%), skeletal system other than vertebral (15.17%), genital system (14.29%), cardiovascular system (12.14%), gastrointestinal tract (10.7%) and spinal cord (10%).Results : 37.43% patients had 3 or more than 3 components of VACTERL association. Two patients had all six components of VACTERL. Most common association was vertebral, anal and renal anomalies seen in 16 patients.Conclusion : Patients with ARM should undergo a detailed general physical, systemic and radiological examination (infantogram, echocardiography, US of urogenital system) in neonatal period to detect associated anomalies in early period     

Abnormal anatomy of the lumbosacral region imaged by magnetic resonance in children with anorectal malformations.

OBJECTIVE: To investigate the frequency of lumbosacral anomalies, the association with urogenital abnormalities, and the correlation with defaecation pattern by magnetic resonance imaging (MRI). METHODS: A prospective analysis was performed of routine MRI in patients with anorectal malformations. Between 1990 and 1994, MRI was performed in 43 such patients: 31 boys and 12 girls. Twenty four had a high anorectal malformation, 16 had a low anorectal malformation, and three had Currarino''s triad. MRI was performed before reconstruction in 26, and postoperatively in 17. Urogenital anomalies were found in 21. RESULTS: Abnormalities of the spinal cord and spine were found with MRI in 20 patients (46.5%); caudal regression syndrome in 10, tethered cord in two, a combination of both in three, and other spinal anomalies in five. These anomalies were found in 30% of the patients with low anorectal malformations, and in 50% with high anorectal malformations. In patients with urogenital malformations, MRI more often showed spinal anomalies (13/21, 62%) than in patients without (7/22, 32%). In high anorectal malformations, defaecation was more often a problem in patients with spinal anomalies (12/15, 80%) than in patients without (2/8, 25%). CONCLUSIONS: Spinal anomalies in the lumbosacral region were found with MRI in 46.5% of patients with anorectal malformations. Since presence of these anomalies seems to be related to clinical outcome, MRI should be performed routinely in all such patients.     

Abnormal anatomy of the lumbosacral region imaged by magnetic resonance in children with anorectal malformations

OBJECTIVE: To investigate the frequency of lumbosacral anomalies, the association with urogenital abnormalities, and the correlation with defaecation pattern by magnetic resonance imaging (MRI). METHODS: A prospective analysis was performed of routine MRI in patients with anorectal malformations. Between 1990 and 1994, MRI was performed in 43 such patients: 31 boys and 12 girls. Twenty four had a high anorectal malformation, 16 had a low anorectal malformation, and three had Currarino's triad. MRI was performed before reconstruction in 26, and postoperatively in 17. Urogenital anomalies were found in 21. RESULTS: Abnormalities of the spinal cord and spine were found with MRI in 20 patients (46.5%); caudal regression syndrome in 10, tethered cord in two, a combination of both in three, and other spinal anomalies in five. These anomalies were found in 30% of the patients with low anorectal malformations, and in 50% with high anorectal malformations. In patients with urogenital malformations, MRI more often showed spinal anomalies (13/21, 62%) than in patients without (7/22, 32%). In high anorectal malformations, defaecation was more often a problem in patients with spinal anomalies (12/15, 80%) than in patients without (2/8, 25%). CONCLUSIONS: Spinal anomalies in the lumbosacral region were found with MRI in 46.5% of patients with anorectal malformations. Since presence of these anomalies seems to be related to clinical outcome, MRI should be performed routinely in all such patients.     

Spinal ultrasound in patients with anorectal malformations: is this the end of an era?

Purpose

Even if lumbar magnetic resonance imaging (MRI) is considered the gold standard in the diagnosis of occult spinal dysraphism (SD) in patients with anorectal malformations (ARMs), spinal ultrasound (US) performed up to 5 months of life have been largely used as a screening test. The aim of the present study was to evaluate the accuracy in terms of sensibility and specificity of neonatal US to detect occult SD in patients with ARMs.

Methods

Retrospective analysis of all patients treated for ARMs between 1999 and 2013 at our institution who underwent both spinal US (up to 5 months of life) and MRI. Sensibility and specificity have been calculated for US based on MRI results.

Results

Of 244 patients treated for ARMs at our institution, 82 (34 females, 48 males) underwent both the imaging studies and have been included in this study. ARMs types were: anal stenosis (7), recto-vestibular fistula (19), recto-perineal fistula (3) and cloaca (5) in female and imperforate anus (7) recto-perineal fistula (14), recto-urethral fistula (22), recto-vesical fistula (5) in males. Forty-seven patients (57, 3 % of total, 18 females, 29 males) had some occult SD (tethered spinal cord, spinal lipoma, syringomyelia) at MRI. Only 7 (14, 8 %) patients of those with spinal anomalies at MRI had pathological US studies. In our population, sensibility and specificity of US for diagnosis of occult SD were, respectively, 14, 8 and 100 %.

Conclusion

Since it is well known that a screening test must have a high sensibility, our data suggest that spinal ultrasound is not suitable as a screening test for occult spinal dysraphism in patients with ARMs. Furthermore, we strongly advise against the use of US as a screening test for spinal dysraphism to prevent a false sense of security in physician and patients’ families.     

Magnetic resonance imaging of spinal cord disease of childhood

Correct diagnosis of spinal cord disease in childhood is often delayed, resulting in irreversible neurologic deficits. A major reason for this delay is the lack of a reliable means to noninvasively visualize the spinal cord. Magnetic resonance imaging (MRI) should be useful in the evaluation of diseases of the spinal cord. A 1.5 Tesla MRI unit with a surface coil was used to study 41 children, including eight patients with intrinsic spinal cord lesions, eight patients with masses compressing the cord, 12 patients with congenital anomalies of the cord or surrounding bony structures, three patients with syrinxes, and three patients with vertebral body abnormalities. Intrinsic lesions of the cord were well seen in all cases as intrinsic irregularly widened, abnormally intense cord regions. MRI was helpful in following the course of disease in patients with primary spinal cord tumors. Areas of tumor were separable from syrinx cavities. Extrinsic lesions compressing the cord and vertebral body disease were also well visualized. Congenital anomalies of the spinal cord, including tethering and lipomatous tissue, were better seen on MRI than by any other radiographic technique. MRI is an excellent noninvasive "screening" technique for children with suspected spinal cord disease and may be the only study needed in many patients with congenital spinal cord anomalies. It is also an excellent means to diagnose and follow patients with other forms of intra- and extraspinal pathology.     

先天性无肛畸形儿MR成像及其与排便功能关系研究

目的评估先天性肛门直肠畸形儿（anorectal malformations，ARM）尾端发育情况及横纹肌复合体（sphincter muscle complex，SMC）发育状态与排便功能的关系。方法39例ARM，男28例，女11例，应用不同序列体部相控阵列线圈或头部线圈MRI显示ARM直肠闭锁水平、骶尾椎、骶髓、泌尿生殖系的发育情况，并对SMC从多个层面进行定量分析，评估其发育状态与临床评分和肛门功能客观检查的关系。结果39例患儿中，MRI T1WI、T2WI扫描判断畸形水平的正确诊断率为100％，T2WI扫描瘘管检出率为96．9％。骶尾椎和骶髓的异常占41．0％，泌尿生殖系统畸形占20．5％。当耻骨直肠肌宽度的相对值PRWR〈0．18，外括约肌宽度的相对值EASWR〈0．15时，71．4％的ARM术后出现肛门失禁。当PRWR〉0．18，EASWR〉0．15时，91．3％的ARM术后排便功能好。结论MR检查能清楚地显示ARM类型、闭锁水平、SMC发育状态、脊柱脊髓及泌尿生殖系统存在的伴发畸形，从MR影像中找到了评价SMC的定量指标。     

THE RADIAL DYSPLASIA/IMPERFORATE ANUS/VERTEBRAL ANOMALIES SYNDROME (THE VATER ASSOCIATION): DEVELOPMENTAL ASPECTS AND EYE FINDINGS

Abstract Say, B., Greenberg, D., Harris, R., DeLong, S. L. and Coldwell, J. G. (Department of Developmental Medicine & Child Neurology, Children's Medical Center, Tulsa, Oklahoma, USA). The radial dysplasia/imperforate anus/vertebral anomalies syndrome (the VATER association): developmental aspects and eye findings. Acta Paediatr Scand 66: 233, 1977.—The developmental evaluations of four children of different age groups with radial dysplasia/imperforate anus/vertebral anomalies syndrome are presented. These show that although the gross motor behavior is significantly delayed, intelligence, language, and social development are within normal range. Therefore, the patients with this syndrome merit every effort toward rehabilitation. Three of the patients discussed have ophthalmological abnormalities, in addition to their major malformations. It may be that congenital eye defects are another component of this syndrome of morphogenesis.     

Anorectal malformations and neurospinal dysraphism: is this association a major risk for continence?

Background/purpose  

Anorectal malformations (ARM) are a spectrum of defects ranging from the very minor ones, with an excellent functional prognosis, to those that are more complex, often associated with other anomalies, difficult to manage and with a poor functional outcome. A significant number of these children suffer from fecal and urinary incontinence despite major advances in the management of ARM patients have significantly improved the quality of life. The role of sacrovertebral anomalies/dysraphism (SD) and neurospinal cord anomalies/dysraphism (ND) associated with ARM on the continence of these patients is still controversial. The authors made a review of their experience in a period of 5 years, focusing on the role of neurospinal cord anomalies in patients with ARM.     

Magnetic resonance detection of myelodysplasia in children with Currarino triad

Purpose. To evaluate the role of MRI in the detection of myelodysplasia in children with Currarino triad. Materials and methods. Six patients (two girls, four boys, aged 7 months–14 years, mean age 6 years) were studied with MRI, voiding cystourethrogram and barium enema or fistulography. CT and ultrasonography were also performed in two patients. Results. All patients presented with partial agenesis of the sacrum. Three patients suffered from an intermediate form of anorectal malformation (ARM) and three had a high form of ARM. The presacral masses consistent with Currarino triad included anterior meningocoele in three patients, lipoma in two patients and anterior lipomeningocoele in one patient. MRI diagnosed tethering of the spinal cord in four of six patients. The tethering of the spinal cord was due to a lipomeningocoele in one patient, an intradural lipoma in one patient and a lipoma of the filum in two patients. Conclusion. The association of Currarino triad with tethered spinal cord seems more common than generally reported in the literature. Preoperative MRI of the lumbosacral spine is essential to detect significant myelodysplasia in all patients with Currarino triad. Received: 15 January 1997 Accepted: 23 June 1997     

A NEW SYNDROME OF DYSMORPHOGENESIS: IMPERFORATE-ANUS ASSOCIATED WITH POLY-OLIGODACTYLY AND SKELETAL (MAINLY VERTEBRAL) ANOMALIES

Nine patients having imperforate anus and hand malformations with or without vertebral anomalies have been presented. The similarity of the findings in these patients to those seen among the members of the luxoid group of mouse mutants, such as the dominant hemimelia (Dh) mutants has been emphasized. Similar cases reported in the literature have been briefly reviewed.     

Anorectal malformations associated spinal cord anomalies

Purpose

The present study aims to identify clinical and pathological factors that can predict the risk of spinal cord anomalies (SCA) in patients with anorectal malformations (ARM), the need for neurosurgery, and to define the impact of SCA on the outcome of patients with ARM.

Methods

A 16-year retrospective analysis of all patients treated at a single tertiary children’s Hospital with diagnosis of ARM. Data were collected to assess the impact of defined clinical characteristics on prevalence of SCA (detected at MRI). Children surgically treated or not for SCA were compared for age, clinical symptoms and type of anomalies at surgery or at last follow-up, respectively. Moreover, patients with intermediate/high ARMs, with or without SCA were compared for neurogenic bladder (NB), constipation, soiling and need for bowel management (BM).

Results

Two hundred and seventy-five children were treated for ARM in the study period, 142 had spinal MRI that showed SCA in 85. Patients with SCA had significantly higher prevalence of preterm birth (p < 0.05), cardiac anomalies (p = 0.02), vertebral anomalies (p = 0.0075), abnormal sacrum (p < 0.0001), and VACTERL association (p = 0.0233). Ten patients were surgically treated for SCA. The prevalence of neurological bladder and neuro-motor deficits, of vertebral and genital anomalies, particularly cryptorchidism, was significantly higher in the operated group (p < 0.01, for each analysis). In patients with intermediate/high ARMs, no significant difference was observed between those with or without SCA, in terms of prevalence of NB, intestinal function and need for BM.

Conclusions

In patients with ARM, factors that can predict a higher prevalence of SCA and also determine an increased indication to neurosurgery may be identified. SCA by itself does not seem to affect the functional prognosis of children with intermediate/high ARM. These data may help physicians in stratifying the clinical and diagnostic pathway of patients with ARM.

     

Evaluation and treatment for spinal cord tethering in patients with anorectal malformations.

BACKGROUND: It has recently been recognized that there is a close relationship between spinal cord tethering (SCT) and congenital anorectal malformation (ARM). PATIENTS AND METHODS: We evaluated spinal MRI examinations of 28 patients with ARM (14 boys and 14 girls) aged 5 months to 9 years. All patients diagnosed with SCT subsequently underwent operation. Patients were divided into high and low type ARM groups. We reviewed the relationship between SCT and ARM, and evaluated the untethering surgery. RESULTS: We evaluated 14 boys (high, 9; low, 5) and 14 girls (high, 4; low, 10). Of these 28 patients, 13 had SCT on MRI. Five out of 13 patients with high type ARM and 8 out of 15 patients with low type ARM had SCT. Seven out of 10 girls with low type ARM had SCT. Ten of these 13 patients with SCT experienced bowel/urological/orthopedic symptoms. SCT symptoms progressed prior to operation in the 2 patients who underwent untethering surgery a few years after their initial MRI examination. Postoperatively, orthopedic symptoms disappeared completely in all patients, but other symptoms did not. CONCLUSIONS: Based on the results of this study, we recommend routine MRI examination of patients with ARM and early untethering surgery in cases with SCT.     

先天性脊柱畸形合并泌尿生殖系统畸形发病情况及相关因素分析

目的 了解先天性脊柱畸形患儿中泌尿生殖系统畸形的发生率并探讨其与多种因素之间的联系.方法 选取2003年3月至2008年11月入院治疗的425例先天性脊柱畸形患儿,术前均行腹部B超了解泌尿生殖系统畸形情况、行脊柱CT了解脊柱畸形及脊柱内神经畸形、行心电图除外心脏异常,出现阳性结果行MRI及超声心动网以确诊.结果 先天性脊柱畸形患儿中泌尿生殖系统的发生率为11.8%(50/425),其发病与胎次、母亲年龄、出生地差异、脊柱畸形的分类、侧弯部位、侧弯方向以及是否合并心血管畸形、椎管内神经系统畸形均无统计学关系.泌尿生殖系统畸形的患儿出生时父亲年龄较无泌尿生殖畸形的患儿父亲年龄大(P=0.018),合并泌尿生殖系统畸形的患儿较易合并肋骨畸形(P=0.011).结论 先天性脊柱畸形患儿合并泌尿生殖系统畸形的发生率较高,需引起临床高度重视,从而给予适当处理.     

先天性脊柱侧凸合并脊髓异常

调查先天性脊柱侧凸患儿脊髓异常的发生并探讨影像学诊断的地位。方法１０７例先天性脊柱侧凸病例中合并脊髓异常者３６中３３．６％。所有病例均摄Ｘ线平片,脊髓造影或ＣＴ脊髓造影２５例,ＭＲＩ检查２７例。     

Correlation of cutaneous lesions with clinical radiological and urodynamic findings in the prognosis of underlying spinal dysraphism disorders

Spinal dysraphism is characterized by a lack of fusion of the vertebral arches that occurs in the absence of spinous processes with variable amounts of lamina. Here, we retrospectively present the importance of cutaneous lesions and their correlation with clinical presentation, radiological examination and urodynamic assessment. We retrospectively reviewed 612 (6.12%) cases with skin lesions from 10,000 consecutive live-born children seen at two institutions between January 1998 and March 2005. We divided all children into a control group and three groups based on clinical assessment, radiological examination and urodynamic evaluation results. Neurological deficits were identified in 113 (18.46%) children, while spinal dysraphism disorders, tethered cord syndrome and associated orthopedic malformations were found in 171 (27.94%), 119 (19.45%) and 28 (4.57%) patients, respectively. The incidence of tethered cord with lumbosacral dimple lesions over the sacrum (32/119, 26.65% of patients) was 3.5-fold higher than that of lesions found over the coccyx (9/119, 7.5% of patients). Uroneurological symptoms were found in 207/612 (33.82%) children. Urodynamic assessment revealed decreased bladder capacity in 10% of patients, detrusor hyperflexia during filling in 47% and a low-compliance detrusor in 71%. Discordance between ultra- sonography and MRI was found in 16.58% of patients. Spinal cord untethering was performed for 109 patients. Nearly all children with resolution were at the end of their follow-up period (24 months). Retethering occurred in 21 (19.26%) patients, and a second untethering surgery was performed in 12 patients. When spina bifida was associated with lumbar skin lesions, there may have been an increased incidence of tethered cord and other spinal cord disorders. MRI scans are more reliable and give an exact diagnosis of tethered cord. Neurological and uroneurological instability are ultimately a clinical diagnosis, and there is controversy about their indications for surgery. However, the correlation between urodynamic assessment and cutaneous lesions with a tethered cord found by MRI examination allow for an early diagnosis and the possibility of prompt treatment.     

脊髓发育不良的外科病理生理学研究

目的研究脊髓发育不良脊髓神经损害的临床病理生理学特点。方法本组共112例患儿，111例施行椎管内手术；单纯末段脊髓缺失1例，未手术。有脊膜修补史46例。依据112例患儿病史、体检以及MRI、尿流和肛肠动力学检查结果及肌电图（EMG）评价并行脊髓手术治疗。术中观察脊髓形态学改变并按照椎管内病变及其脊髓病理解剖改变将其分为终丝栓系（又分为A、B两亚型）、脊髓粘连、脊髓脂肪瘤、囊性占位、脊髓纵裂、静态病变等6型。依据综合评价结果将脊髓损害的病程分为5期，每期给予相应评分并做统计学分析。结果7组脊髓神经损害综合评分的方差分析和临床分期的秩和检验差异都有非常显著性意义（P〈0．001或0．05）。直线相关与回归分析表明患儿年龄与脊髓神经损害间（r=0．55，P〈0．001）和栓系组圆锥末端位置与首发症状年龄之间（r=0．44，P〈0．001）都有显著正相关关系。结论脊髓神经损害是一个由椎管内病变及其脊髓形态学改变引起并进行性加重的动态病理过程。诊治方针应是早期诊断和施行椎管内手术治疗以改善预后，临床分期和病理学分型具有一定临床价值。     

A patient with facial abnormality,imperforate anus,tetrapolyhypodactyly and meningocele: a variable manifestation of the polyoligodactyly/imperforate anus/vertebral anomalies syndrome

We present a case of an 80-day-old boy with major anomalies consistent with polyoligodactyly/imperforate anus/vertebral anomalies (PIV) syndrome. In addition, he had facial abnormality, tetrapolyhypodactyly, and sacral meningocele. Polydactyly was of postaxial and central types, and all the distal phalanges were absent. The association of such anomalies enabled pinpointing of the development of this complex anomaly from the 4th to the 6th weeks of the embryonic phase. This condition is extremely rare, and the estimated incidence is 3 in one billion.