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13 Rectal Duplication and Anal Canal Duplication 231 13 Rectal Duplication and Anal Canal Duplication Devendra K. Gupta and Shilpa Sharma Contents duplication cyst were obtained. The authors have had personal experience of only four cases of rectal dupli- 13.1 Rectal Duplication . 231 cations, all of which presented in unique ways. 13.1.1 Introduction . 231 13.1.2 Pathology . 231 13.1.3 Embryogenesis . 231 13.1.2 Pathology 13.1.4 Classification . 232 13.1.5 Clinical Features . 232 The definition of rectal duplication relies on histologi- 13.1.6 Differential Diagnosis . 233 13.1.7 Investigations . 233 cal appearance and includes three essential criteria for 13.1.8 Treatment . 233 alimentary tract duplications as defined by Ladd and 13.1.9 Summary . 234 Gross: (1) continuity or contiguity with the rectum, 13.2 Anal Canal Duplication . 234 (2) the presence of smooth muscle tissue in two layers, 13.2.1 Introduction . 234 and (3) a mucosal lining normally present in the gut 13.2.2 Clinical Presentation . 234 of that region or even distantly in the alimentary tract 13.2.3 Investigations . 235 [3]. Rarely, a cyst containing ectopic gastric mucosa 13.2.4 Treatment . 235 or pancreatic tissue may be observed [4,5]. Lymphan- 13.2.5 Management of Associated Anomalies . 236 giomas and mesenteric cysts are not included in the References . 237 definition because the wall of these lesions does not contain a muscular layer or intestinal mucosa. 13.1 Rectal Duplication 13.1.3 Embryogenesis 13.1.1 Introduction Many hypotheses have been put forward to explain how alimentary duplications develop. Two of these Alimentary tract duplications are rare congenital mal- are the Veeneklass theory and the Lewis–Thyng the- formations. They can occur at any level of the gastro- ory. The Veeneklass theory seems to be accepted by intestinal tract, although the majority is found in the most authors for isolated duplications with no spinal ileum. Rectal duplications form only 5% of alimentary involvement. According to Veeneklass, duplications tract duplications, with less than 100 cases reported result from a disorder during separation of the noto- in the English literature up to the present date. chord due to defective adherence of the endoderm to The first case of rectal duplication was described the notochord [6]. Migration of cells during embry- in 1885 [1]. Since then, a confusing and varied termi- onic development and metaplasia of undifferentiated nology has been used to represent rectal duplication, cells (totipotent cells) of the embryonic gut could ex- including enterocystoma of the rectum, enterogenous plain the presence of heterotopic mucosa. cyst of the rectum, tail gut cyst, precoccygeal cyst, The Lewis–Thyng theory proposes that the em- rectal cyst, and cystic hamartoma [2]. The majority of bryogenesis of rectal duplication is attributed to rectal duplications are located in the retrorectal space “pinching off” of diverticula present in the 20- to 30- as a cystic mass, which is both diagnostically and mm (8- to 9-week) embryo [7]. This is in contrast therapeutically challenging to the surgeon because of to the process “caudal twinning” (caudal twinning their rarity and polymorphic anatomic-clinical pre- theory), which occurs at the 10-mm embryonic stage sentation. In a national survey from various teaching and is associated with complicated hindgut twinning centers in India, only anecdotal case reports on rectal anomalies. By this mechanism it is possible that the 232 Devendra K. Gupta and Shilpa Sharma urothelial elements noted in these lesions are derived duplication can be palpated on rectal examination as from cloacal tissues. a smooth, firm mass that bulges into the rectal lumen from the sacral hollow. As the duplication cyst slowly fills with the fluid, it 13.1.4 Classification enlarges causing local symptoms such as tenderness, low back pain, suprapubic pain, intestinal obstruc- Rectal duplications can be anterior or more com- tion, dysuria, dystocia, or sciatic pain. Drainage of monly posterior and these can be further classified as mucus or pus from the anus or from a perianal fistula type I (cystic) and type II (tubular; Fig. 13.1). Type I is is a frequent presenting sign. Fistulae are reported to the most common anomaly reported. Based on their occur in approximately 20% of cystic rectal duplica- embryogenesis, rectal duplications are expected to tions and involve the perianal skin posterior to the appear posterior to the rectum. Anterior rectal dupli- anus or the distal canal in the midline [15]. The fis- cations are very rare, with only few cases reported [4, tula rate of 45% in one series was based on both clini- 8–10]. Type II can be further divided into blind end- cal and pathological examination, suggesting that ing (A), communicating with the rectum (B), associ- not all communications are clinically evident [5]. A ated with a fistulous communication in the perineum characteristic finding is a cone-shaped dimple in the (C), and multiple cysts(D). Type IIC should be differ- midline just posterior or anterior to the anal verge. It entiated from double ani, in which the anal sphincter may rarely present as a perforated ulcer [16]. No case is well formed and looks clinically like an additional with communication to the urinary tract has been anal opening rather than a fistulous tract. Most of the reported, although some patients presented with uri- rectal duplications are thus cystic and in 90% of cases nary tract symptoms due to compression by a large do not communicate with the rectum [11]. duplication. Many of these patients who were misdi- agnosed initially underwent drainage of an apparent perirectal abscess or marsupialization of a fistula-in- ano only to suffer multiple recurrences. Patients may present with a nonspecific picture of gastroenteritis in a setting of failure to thrive and a past history of recurrent urinary tract infections. Ma- lignant degeneration in rectal duplications has also been reported in the adult age group; usually adeno- Fig. 13.1 Cystic and various types of tubular (A–D) rectal du- carcinoma, rarely carcinoid [17,18]. plication cysts The authors’ experience with the management of four rectal duplication cysts is as follows: Case 1. A 9-month-old-male child was found to 13.1.5 Clinical Features have three duplication cysts in the midline poste- rior to the rectum, during a posterior sagittal ano- Although a female:male ratio of 2–3:1 is reported in rectoplasty (PSARP) procedure. The cysts were very the literature [5], all the four cases in the author’s se- small (0.5–1.0 cm), tubular, looked like segments of ries were males. The presentation of a rectal duplica- intestine, and were attached loosely to each other lon- tion depends on the following factors: (1) the size and gitudinally; however, they were not adherent to the therefore the mass effect of the duplication, (2) the rectum. The cysts were easily excised and the diagno- presence of a fistula, (3) infection in the duplication, sis established histopathology. Rectal duplication was (4) the presence of ectopic gastric mucosa with ulcer- not suspected preoperatively and it was only a chance ation, and (5) malignant degeneration. finding during the surgery. Rectal duplications are rarely symptomatic dur- Case 2. A newborn male child presented with a ing the immediate neonatal period unless presenting defect in the perineum around the anus anteriorly. A as a rectal mass bulging outside the anal canal or a tongue of the anal mucosa extended from the anal mucosal-lined fistulous tract opening in the midline verge high up for about 3 cm. There was mucus dis- posteriorly or, rarely, anteriorly [11–14]. Since the charge and the baby was incontinent. On examina- cyst expands slowly and is located in the retrorectal tion, there was an incomplete tubular structure about area, compression of the rectum and lower urinary 3 cm long situated in the midline just anterior to the tract may result. The lack of suspicion due to its rarity anal verge. It was lined by mucosa that communi- explains the diagnostic difficulties. The cystic rectal cated freely with the rectum and the anal canal. The 13 Rectal Duplication and Anal Canal Duplication 233 cyst was excised from the perineum and the defect repaired. The anal sphincter was reconstructed and the postoperative result was good, with development of full continence. Case 3. A 6-month-old male baby presented with constipation and a cystic mass bulging from the anal verge. A computed tomography (CT) scan confirmed the presence of a fluid-filled mass located posterior to the rectum. It extended up for 5 cm from the anal verge. Needle aspiration of the cyst revealed fluid mixed with mucus. The cyst was located posteriorly but extended laterally more on the left side. The cyst and the rectum shared a common muscular wall that could be separated carefully. It was excised via a pos- Fig. 13.2 Computed tomography scan showing a fluid-filled terior sagittal route. The rectal wall was repaired and retrorectal cyst suggestive of rectal duplication (photograph the postoperative result was excellent. and case 5 details, courtesy of Dr. Shivkumar, Trivandrum, In- Case 4. A 12-year-old boy presented with perineal dia) hypospadias and ARM. A fistulous opening was pres- ent in the perineum between the neoanus and the hy- pospadiac meatus. A fistulogram delineated a 4-cm- hamartomas, anal gland cysts, and retrorectal cysts long tract anterior to the rectum ending in a blind lined with squamous epithelium. tubular structure. An anorectoplasty was done and the hypospadias was repaired, separating the urethra from the fistulous tract and the anus, under cover of 13.1.7 Investigations a colostomy. Excision of the rectal duplication cyst has been deferred for fear of injury to the posterior Modalities that allow diagnosis include abdominal urethra and the possible risk of fecal incontinence re- x-ray, ultrasonography, CT, and magnetic resonance sulting from the surgical intervention.
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