ObjectiveThe associations between imperforate anus and spinal and vertebral abnormalities and neurologic deficits are well recognized; these neurologic deficits have been considered static rather than progressive. However, recent experience indicates that some patients may develop progressive neurologic problems due to spinal cord lesions that are amenable to neurosurgical correction.Materials &amp; MethodsThe medical records of 105 patients with imperforate anus, operated on by us, were retrospectively reviewed from 1996 to 2005. Patient's sex, anorectal type lesion and vertebral or spinal anomalies were determined by ultrasound, excretory urography, voiding cystouretherography (VCUG) and  lumbosacral x-ray.ResultsA hundred and five cases, consisting 48 (45.7%) boys and 57 (54.3%) girls, with anorectal malformations were studied; 70 patients were in high and intermediate type level, and totally 25 patients (35.7%) with spinal and vertebral anomalies were found in this group.ConclusionAll patients with anorectal malformations (ARM) should be investigated for spinal and vertebral anomalies to improve treatment outcomes in ARM.

Ghoroubi, J.

Kouranloo, J.

Mirshemirani, A.

Sadeghiyan, N.

English

Journals Portal, Shahid Beheshti University of Medical Sciences

51Iran J Child Neurology  Oct  2008CASE SEREISE ARTICLESPINAL AND VERTEBRAL ANOMALIES ASSOCIATED WITH ANORECTAL MALFORMATIONS A.Mirshemirani MD 1 ,J.Ghoroubi MD 2,J. Kouranloo MD 3, N.Sadeghiyan MD 4 1. Associate Professor of Pediatric Surgery, Shahid Beheshti Medical University 2. Assistant Professor of Pediatric Surgery, Shahid Beheshti Medical University3. Professor of Pediatric Surgery, Shahid Beheshti Medical University4. General Physician, Shahid Beheshti Medical UniversityCorresponding Author:A. Mirshemirani MD Mofid children’s hospital Tel: +98 21 22227030-31Fax:+98 21 22220254 Email: almirshemirani@yahoo.comAbstractObjectiveThe associations between imperforate anus and spinal and vertebral abnormalities and neurologic deficits are well recognized; these neurologic deficits have been considered static rather than progressive. However, recent experience indicates that some patients may develop progressive neurologic problems due to spinal cord lesions that are amenable to neurosurgical correction. Materials & MethodsThe medical records of 105 patients with imperforate anus, operated on by us, were retrospectively reviewed from 1996 to 2005. Patient’s sex, anorectal type lesion and vertebral or spinal anomalies were determined by ultrasound, excretory urography, voiding cystouretherography (VCUG) and lumbosacral x-ray.ResultsA hundred and five cases, consisting 48 (45.7%) boys and 57 (54.3%) girls, with anorectal malformations were studied; 70 patients were in high and intermediate type level, and totally 25 patients (35.7%) with spinal and vertebral anomalies were found in this group.ConclusionAll patients with anorectal malformations (ARM) should be investigated for spinal and vertebral anomalies to improve treatment outcomes in ARM. Keywords: Anorectal malformations, spinal, vertebral anomaliesIntroductionAnorectal malformations (ARM) are a complex group of malformations diagnosed at the time of birth, because of either the absence or an ectopic location of anus (1). The incidence is approximately 1:5000 live births and they are seen more often in boys than in girls(2). The broad spectrum of ARM includes anal atresia, anal stenosis, ectopic anus, congenital anal fistula, and persistence/exstrophy of the cloaca (3).Anal atresia is the most frequent of congenital anal anomalies; it is a complex condition that can be subdivided into high, intermediate, and low atresia according to the level of termination of the rectum or anal canal in relation to the levator ani muscle(4). Anorectal malformations are associated with several other congenital anomalies, involving most commonly the genitourinary system and vertebral column and also include segmentation anomalies and sacral agenesis (5). The vertebral anomalies have been associated with occult dystrophic lesions of the 52 Iran J Child Neurology  Oct  2008spinal cord (occult myelodysplasia), which may result in cord tethering (6,7). Material & MethodsAll the children diagnosed with congenital anorectal malformations in Mofid children’s hospital from 1996 to 2005 were studied retrospectively. Case records and imaging studies of 105 children were reviewed. Patient’s gender, anorectal lesion level and the presence of vertebral or spinal anomalies were determined; the level of anorectal lesion was determined by radiography evaluation. In 70 (66.7%) patients who had intermediate or high level anorectal lesions, ultrasound, excretory urography, VCUG and lumbosacral x-rays were performed. Those patients suspected of having associated spinal anomalies were evaluated with ultrasound, vertebral x-ray and MRI. Statistical analysis was performed using SPSS v 13 software (Apache Software Foundation, Chicago, Illinois).ResultsOne hundred and five patients 48 (45.7%) boys and 57 (54.3%) girls) with ARM were enrolled in this study; 70 (66.7%) of these had high and intermediate types of this anomaly, and 35 (33.3%) low type (figure 1). All 25 (35.7%) of spinal and vertebral anomalies in our patients were in high and intermediate type of imperforate anus (70 cases) (Table1). Table 2 demonstrates the different spinal and vertebral anomalies in the 25 (35.7%) patients (figure 2).Figure 1: Excretory urogram showing partial agensis of sacrom in one of our patients with high imperforate anus.Figure 2: MRI of tethered cord in one of the studied patientsTable 1: ARM level according to gender in the 105 patients.Gender (%) Low High+ intermediateMale 10 40 38 54.2Female 25 60 32 45.8total 35 100 70 100Table 2: Spinal/Vertebral anomalies in70 patients with high/ intermediate type of ARMAnomaly Number PercentageSacral Agenesis 8 32Spina Bifidia 4 16Hemi Sacrum 2 8Myelomeningocele 1 4Tethered Cord 5 20Neurovesical Dysfunction(NVD)5 20total 25 100SPINAL AND VERTEBRAL ANOMALIES ASSOCIATED WITH ANORECTAL MALFORMATIONS 53Iran J Child Neurology  Oct  2008Discussion Imperforate anus is a complex maldevelopment of the anorectal region. This anomaly represents failure of the terminal hindgut to develop and the incomplete division of the cloaca by the urorectal septum that separates the ventral urogenital sinus from the dorsal anorectal canal (1). Additional congenital anomalies are often present in patients with ARM, coexisting anomalies that account for the high morbidity and mortality associated with this condition (8). There is wide variation in the type of ARM and the range of associated anomalies (9). The incidence of associated vertebral and spinal anomalies reported in ARM subjects, varies from 16.67% to 38.3% in different series (10). The incidence of vertebral and spinal anomalies in our study was 35.7% which is similar to the data reported above.Varying degrees of sacral abnormalities are commonly present in patients with imperforate anus, ranging from mild changes of sacral dysplasia (sacral stubbiness, sacral scoliosis) to varying degrees of sacral segmental agenesis (10). The importance of the sacral defect is not in its need for spine support but in it’s coexistence with defective bladder innervations, and poor development of the levator Ani sling (11, 12). In 3 of our patients there was neurovesical dysfunction, too. Williams and Nixon (13) have stressed the importance of sacral dysplasia in the diagnosis of neurogenic bladder with or without vesico-ureteral reflux, commenting on the high incidence of imperforate anus in this group of patients (14). Despite the lateral sacral study shows the abnormality, actual total absence of the sacrum was not present in any of our patients. The chance of an abnormal urinary tract is markedly raised in patients with imperforate anus who have sacral dysplasia (5). Specifically excluded from this definition of sacral dysplasia is nonosseous fusion of the upper sacral segments (15). Of the 25 patients in our study, 8 (32 % ) had sacral dysplasia (spina bifida occulta).Lumber anomalies are less emphasized in discussions of spine defects in patients with imperforate anus (4). Coexistent urologic defects are too mild as compared to those with sacral defects alone (3,12,16). In study of 104 ARM subjects, Mittal et al, found associated spinal anomalies in 10% and vertebral anomalies in 34.3 % of the subjects(16). In our study there were 8 patients with sacral agenesis. Published prevalence of associated anomalies varies considerably because of the following: Differences in case definition and inclusion/exclusion criteria; length of time after birth that cases are examined; variability of clinical expression of associated anomalies; knowledge and technology available to produce syndrome delineation; selection of patients, sources of ascertainment, and sample size; and true population differences and changes in frequency over time (7).In conclusion, because of the high incidence of spinal cord lesions in patients with coexisting anorectal and sacral anomalies, routine screening for spinal cord is recommended to improve treatment (17).   AcknowledgementThe authors thank Mr.K.Kouranloo & Mrs. M Saeedi for thier kind help in the preparation of this manuscript.   References1. Alford BA, Mcllhenney J. The newborn and young infant. In: Grainger RG, Allison D, eds. Grainger and Allison’s Diagnostic. Radiology: A Textbook of Medical Imaging. 3rd ed. New York; Churchill Livingstone, 1997; 1114-1188.2. Stringer D. Pediatric large bowel. In Freeney PC, Stevenson. GW, eds. Margullis and Burhenne’s Alimentary Tract Radiology. 5th end. Philadelphia: Mosby Year. Inc: 1994:1909-1912.3. Cuschieri A, EUROCAT Working Group: Anorectal anomalies associated with or as part of other anomalies. Am J Med Genet 2002;110:122-130.4. Stoll C,. Alembik Y, Dott B, Roth M.P.Associated malformations in patients with anorectal anomalies.European Journal of Medical Genetics 2007;50 :281-290.5. Thompson W, Grossman H. The association of spinal and genitourinary abnormalities with low anorectal anomalies (imperforate anus) in female infants. Radiology 1974; 113:693-698.SPINAL AND VERTEBRAL ANOMALIES ASSOCIATED WITH ANORECTAL MALFORMATIONS 54 Iran J Child Neurology  Oct  20086. Carson JA, Barnes PD, Tunell WP, Smith I, Jolley SC. Imperforate anus: the neurologic implication of sacral abnormalities. J Pediatr Surg 1984; 19:838-841.7. Tunell WP, Austin JC, Barnes PD, Reynolds A. Neuroradiologic evaluation of sacral abnormalities in imperforate anus complex. J Pediatr Surg 1987;22 :5-61.8. Stephens FD, Smith ED. Classification, identification and assessment of surgical treatment of anorectal anomalies. Pediatr Surg Int 1986;1 :200-205.9. Cho S, Moore S.P, Fangman S. One hundred three consecutive patients with anorectal malformations and their associated anomalies, Arch. Pediatr. Adolesc 2001;155 :587-591.10. Metts JC, Kotkin C, Kasper S, Shyr Y, Adams MC, Broek JW. Genital malformations and coexistent urinary tract or spinal anomalies in patients with imperforate anus. J Urol 1997; 158:1298-1300.11. Denton RJ. The association of congenital spinal anomalies with imperforate anus. Clin orthop1982;162 :91-98.12. Stephens FD, Smith ED. Anorectal malformations in children: update 1988. Vol 24, no. 4. New York, NY: Liss, 1988.13. William, D. and Nixon, H.H. agenesis of sacrum. surg. Gynec & obst 1957;105:84-88.14. Scholtmeijer RJ, Molenaar JC, Schreeve RH, Schroeder FH. Urogenital tract abnormalities associated with congenital anorectal anomalies. J Urol 1983; 130:962-96315. Hassink EAM, Rieu PNMA, Hamel BCJ, Severijnen RSVM, vd Staak FHJ, Festen C. Additional. Congenital defects in anorectal malformations. Eur J Pediatr 1996;155:477-482. 16. Mittal. Associated anomalies with anorectal malformation (ARM). Indian journal of pediatrics  2004 June;71(6): 509-51417. Duhamel B. From the mermaid to anal imperforation: The syndrome of caudal regression. Arch Dis Child 1961; 36:152-155.SPINAL AND VERTEBRAL ANOMALIES ASSOCIATED WITH ANORECTAL MALFORMATIONS 

Spinal and Vertebral Anomalies Associated with Anorectal Malformations

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Spinal and Vertebral Anomalies Associated with Anorectal Malformations

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