Embryological and clinical implications of the association between anorectal malformations and spinal dysraphisms (original) (raw)
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Journal of neurosurgery. Spine, 2016
OBJECTIVE The goal of this study was to determine the significance of spinal cord anomalies (SCAs) in patients with anorectal malformations (ARMs) by comparing the outcomes for bowel function, lower urinary tract symptoms (LUTS), and lower-limb neurological abnormalities to these outcomes in patients with similar ARMs and a normal spinal cord. METHODS The spinal cord MRI records of female patients treated for vestibular and perineal fistula (VF/PF) and male patients with rectourethral fistula (RUF) at a single center between 1983 and 2006 were reviewed. Bowel function and LUTS were assessed by questionnaire. Patients with extensive sacral anomalies or meningomyelocele were excluded. RESULTS Of 89 patients (median age 15 years, range 5-29 years), MRI was available in 90% (n = 80; 40 male patients with RUF), and 80% of patients returned the questionnaire (n = 64; 31 male patients with RUF). Spinal cord anomalies were found in 34%, comprising a filum terminale lipoma in 30%, low conus ...
Anorectal malformations and neurospinal dysraphism: is this association a major risk for continence?
Pediatric Surgery International, 2010
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. Materials At colorectal clinic of our department of pediatric surgery 215 patients who underwent a procedure of posterior sagittal anorectoplasty for ARM are followedup in a multidisciplinary clinic. Among them 60 patients with either SD or ND were documented. In 37 patients the anomaly involved the spinal cord (ND). 12 of these 37 patients underwent neurosurgical treatment and 25 were managed conservatively. Data collected from their followup were analyzed and compared, focusing on their bowel and urinary continence. Results All 37 patients acquired regular bowel movements with an appropriate bowel management according to Peña's protocols. Urinary incontinence required clean intermittent catheterization in four cases. None of the patients who did not receive neurosurgical treatment developed acute complications due to the progression of the neurospinal anomaly, like acute urinary retention, orthopedic and motility problems or acute hydrocephalus. From literature review we were unable to find good evidence that the presence of ND worsens the functional prognosis of patients with ARM. We were also unable to find convincing evidence to support the practice of prophylactic neurosurgical procedures. Conclusions The present study supports the theory that for ARM patients the prognosis in terms of continence depends mainly on the type of malformation and is not complicated by the association with ND. In our series neurosurgical treatments did not have any effect in improving the continence of ARM patients and a conservative management of ND did not expose the patients to the sequelae of progressive deterioration, reported elsewhere, requiring rescue neurosurgery. We believe that the correct practice of pediatric surgeons following-up ARM patients is a protocol which includes appropriate investigations to detect the presence of a SD or ND and, once these entities are detected, it is mandatory to manage the patient with a multidisciplinary team, where a conservative non-operative management is initially justified and advocated in the absence of neurosensorymotor symptoms.
Anorectal malformations with good prognosis: Variables affecting the functional outcome
Journal of Pediatric Surgery, 2014
Backgroud/Purpose: The purpose of this study was to investigate the outcome of patients operated for anorectal malformations (ARMs) with good prognosis. Methods: Thirty patients underwent clinical evaluation by Rintala score and anorectal manometry recording anal resting pressure (ARP), rectoanal inhibitory reflex (RAIR), and rectal volume (RV). The results were analysed with regard to sex, type of ARM, surgical timing of posterior sagittal anorectoplasty (PSARP), neurospinal cord dysraphism (ND), neonatal colostomy, and institution where they underwent surgery. Results: 6/30 (20%) presented ND despite normal sacrum. 17/30 (57%) patients had a normal Rintala score. ND and neonatal colostomy were significantly associated with a pathologic score (p = 0.0029 and p = 0.0016). Patients with ND had significantly lower ARP compared to patients with normal spine (23.5 ± 7.2 mmHg vs 32 ± 7.9 mmHg, p = 0.023). ARP was significantly lower in patients with neonatal colostomy compared to patients with primary repair (25.22 ± 10.24 mmHg vs 32.57 ± 6.68 mmHg, p = 0.026). RAIR was present in only 2/6 (33%) patients with ND, while in 21/24 (87.5%) without ND (p = 0.015) and in 4/9 (44%) patients with neonatal colostomy, while in 19/21 (90.5%) patients submitted to primary repair (p = 0.014). Conclusions: Neurospinal cord dysraphism may be present despite normal sacral ratio. From a clinical point of view, patients with good prognosis ARMs are not completely comparable to healthy children. Neurospinal cord dysraphism and neonatal colostomy seem to worsen the clinical and manometric (ARP and RAIR) outcomes of these patients.
Role of magnetic resonance imaging to detect occult spinal anomalies in anorectal malformations
International Journal of Contemporary Pediatrics, 2016
Anorectal malformations (ARM) are a complex group of malformations diagnosed at the time of birth because of absence or an ectopic location of bowel end. 1-3 The incidence is approximated 1:5000 live births and they are more often seen in boys than in girls. 4 ARM are associated in a high percentage of patients with other anomalies. 1,5 These anomalies include genitourinary, cardiac, vertebro-spinal and gastrointestinal anomalies. 6-9 Many of these associated anomalies are serious and the long-term prognosis of child with anorectal malformation is often more dependent on the extent of these associated anomalies than on the anorectal malformation itself. Literature show that the incidence of spinal cord anomalies was no different between those with a high lesion and those with a low lesion, and spinal cord anomalies were present regardless of vertebral anomalies or symptoms. 10,11 Therefore, it is recommend for MRI evaluation of all patients with ARM.
Spinal cord anomalies in children with anorectal malformations: Ultrasound is a good screening test
Journal of Pediatric Surgery, 2019
The purpose of this study is to correlate spinal ultrasound (US) and magnetic resonance imaging (MRI) findings in patients with anorectal malformations (ARMs). Methods: A retrospective analysis of records was performed for children with ARM presenting to two major pediatric hospitals between 2009 and 2017. The primary outcome analyzed was detection of spinal cord anomalies. Spinal US was performed up to 4 months and MRI within the first year of life. The conus medullaris was considered normal if it had a tapering contour and terminated at or above the Lumbar 2-3 disk space. Results: One hundred ninety-three patients with ARM presented during the study period with a slight male preponderance (108, 56%). Spinal imaging was performed in 157(82%)-137(87%) had US, 64(41%) had MRI and 44 (28%) had both. Of the 44 who had both; US was abnormal in 25 children-confirmed by MRI in 20 (80%). US was normal in 17 children-MRI showed a filum cyst in 1 and a lipoma in 2 children and was inconclusive in 2 children (pb 0.001). All who required surgery except one child, were reported on spinal US to have a low lying cord, borderline low cord or tethered cord (pb.05). No child who was reported to have a normal spinal US required de-tethering at a later stage. Spinal US had an overall sensitivity of 91% and specificity of 75% compared to MRI for detecting spinal cord anomalies in children with ARM Conclusions: Spinal US performed in a tertiary pediatric imaging department was a good screening test for spinal cord anomalies in children with ARM. The finding of a low, borderline low or tethered cord on US mandates an MRI to confirm the findings and correlates with the need for operative correction of spinal cord tethering. Study type: Clinical research paper. Level of evidence: 2.
Journal of Pediatric Surgery, 2012
We evaluated the incidence of congenital anomalies associated with anorectal malformations (ARMs) in relation to the anatomic type of ARM as defined by the Krickenbeck classification. Methods: We reviewed 99 children with ARM in our institution from 2002 to 2011. Data were collected on patient demographics, type of ARM, and associated congenital anomalies, which were categorized according to organ systems. Statistical analysis was performed for comparison between groups using 'perineal fistula' as the base group. Results: There were 62 (63%) male patients. The majority had perineal fistulas (35, 35%). Seventyseven (78%) had at least one associated malformation. The most frequent malformations seen were genitourinary (28, 28%) and spinal anomalies (26, 26%). Those with rectovesical fistula had the highest proportion of genitourinary malformations (Odds Ratio [OR], 41.3; 95% confidence interval [CI], 4.7-363.4). Those with cloaca (OR, 49.5; 95% CI, 3.4-718.9) and those with rectovestibular fistula (OR, 12.4; 95% CI, 2.3-65.6) were most likely to have major spinal abnormalities, with tethered cord seen in all groups. The rectovestibular group was also most likely to have other associated malformations (OR, 8.6; 95% CI, 2.2-32.8). Conclusion: More than 75% of children with anorectal malformation have other associated malformations. Genitourinary anomalies are the most common. Major spinal anomalies are seen in all groups, affecting nearly half of those with rectovestibular fistula and those without fistula. The incidence of associated malformations in the rectovestibular group is higher than described in the literature. Thorough systematic evaluation of all infants with ARM should be done regardless of type of ARM.
Abnormalities of the vertebral column and ribs associated with anorectal malformations
Pediatric Surgery International, 2004
Lumbosacral vertebral abnormalities are a common association of anorectal malformations (ARMs) and are one of the determinants of the eventual level of fecal continence that can be achieved. This study used a fetal rat model to investigate the spectrum of axial skeletal maldevelopment that may occur with ARMs. Time-mated pregnant rats received 125 mg/kg of 1% ethylenethiourea (ETU) (experimental group) or vehicle only (control). Their fetuses were examined for external malformations and prepared for staining of their skeletons using Alcian blue and Alizarin red S. ARMs developed in 67/68 (98%) of ETU-exposed fetuses, of which 28 (42%) also developed rachischisis, mainly involving the lumbosacral vertebrae. No skeletal abnormality was found in control fetuses. ETU-exposed fetuses with ARMs and rachischisis had abnormal ossification of the vertebral centrum, abnormal fusion between the neural arches of vertebrae, localized narrow or interrupted thoracic vertebral canal, a widely open vertebral canal in the lumbosacral area (rachischisis), and absence of the lower two sacral and coccygeal vertebrae. Rib abnormalities included absence of two to three floating ribs, abnormal fusion of adjacent proximal segments, and abnormal ramification, irregularity, and angulation of their distal segments. The vertebral and rib abnormalities found in ETU-exposed fetuses with ARMs but no rachischisis were much less severe. In addition to the lumbosacral anomalies that are common with ARMs, severe abnormalities of the thoracic vertebrae and their corresponding ribs may occur also. Fetuses with both ARM and rachischisis tend to have more extensive and severe vertebral and rib anomalies. These observations imply a possible common aetiology for ARMs and vertebral anomalies and are consistent with our understanding of the perceived role of the notochord in axial development.
Anorectal malformations - their impact on early phases in life
2014
Abstract: Background : Anorecta l malformation s (ARM) occur in 4: 10000 newborn children with the gender distribut ion 1:1.5 females:males. The reconstruction of ARM, posterior sagiccal anorectal plasty (PSARP), was implemenred worldwide in the late 1980s and therefore the follow-ups are limited. Aims: To assess bowel symptoms in children and adolescents with ARM, operated on with PSARP, and to evaluate the qualicy oflife (QoL) and sexual health among the same adolescents. To evaluate the outcome of appendicostomy in preschool children with ARM. To study the anatomical status of the pelvic floor, and its possible correlation with bowel symptoms, among females with ARM. Results: Fecal incontinence was reported by 45% of the 121 children, and by 75% of the 24 adolescents. Constipation was reported by 50% children and 83% adolescents. Symptoms were more frequenr among females than males with the same subcype of ARM. Physically related QoL was lowered for females with ARM , while the m...