Anorectal malformations

Abstract

Anorectal malformations (ARMs) are among the more frequent congenital anomalies encountered in paediatric surgery, with an estimated incidence ranging between 1 in 2000 and 1 in 5000 live births. Antenatal diagnosis of an isolated ARM is rare. Most cases are diagnosed in the early neonatal period. There is a wide spectrum of presentation ranging from low anomalies with perineal fistula having simple management to high anomalies with complex management. Advances in the imaging techniques with improvement in knowledge of the embryology, anatomy and physiology of ARM cases have refined diagnosis and initial management. There has been marked improvement in survival of such patient over the last century. The management of ARM has moved forward from classical procedures to PSARP to minimal invasive procedures. But still the fecal and urinary incontinence can occur even with an excellent anatomic repair, mainly due to associated problems. There has been a paradigm shift in approach to these patients which involves holistic approach to the syndrome of Anorectal malformations with a long term goal of achievement of complete fecal and urinary continence with excellent quality of life.

Anorectal Malformations in a Tertiary Pediatric Surgery Center from Romania: 20 Years of Experience

“…Malformations of the anus, anal canal and rectum are relatively common congenital defects, often coexisting in a significant percentage of cases with other congenital anomalies, but as different authors reporting their incidence has major differences in terms of worldwide geographic distribution [1][2][3]7]. Researchers such as de Blaauw and Wijers found that the causes of ARMs are unknown, but some studies demonstrated a genetic predisposition to these conditions [9,10].…”

“…ARMs include a wide spectrum of inborn defects ranging from perineal fistulas that require a relatively simple modality of treatment to major defects that require complex management. The multiple taxonomy of these lesions (Wingspread, Peña, Kirkenbeck) proposed in the literature is rather confusing, most practitioners currently favoring a classification based on the anatomical criteria depending on the position of the rectal pouch relative to the puborectal sling, associated abnormalities ("syndromic" forms) and the presence or absence of fistulas [2,10,11]. Advances in imaging techniques along with improvements in embryology, morphology and pathogenesis of these lesions have refined both diagnosis and management, moving from classical procedures to PSARP (VUP) and even minimally invasive methods, as discussed by different authors [12][13][14][15][16][17][18].…”

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Journal of Surgery

IntroductionAnorectal malformations (ARMs) are a group of commonly encountered congenital anomalies in pediatric surgery practice, with an incidence of 2 in 1000 to 1 in 5000 live births, but with significant variations between different regions throughout the world, as reported in the literature [1,2]. According to Peña and Bechit there is a wide spectrum of presentation, ranging from low perineal fistula to high anomalies with complex surgical management [3,4].

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MRI as the Only Pre-Operative Imaging Modality in ARM: What Advantage does it Provide?

“…In any other case a colostomy is performed as ORIGINAL ARTICLE a diversion and the new born is evaluated using conventional imaging methods (distal colostogram, transperineal ultrasonography) for demonstration of the altered anorectal anatomy. Without this information, an operation in the newborn period is essentially a blind perineal exploration and in turn damage unexpected structures during the search for rectum [2,7,8].…”

“…For patients with ARMs, post-operative continence depends on the grade of development of sphincter muscle complex (SMC). Pelvic MRI though not done routinely is the most effective imaging technique for determining the grade of development of SMC [7,8,[15][16][17]. This information will help the medical team make decisions about the definitive surgical approach and provide orientation about the possible post-operative prognosis [2].…”