Rectal duplications in children: two case reports and review of the literature

Duplications of the rectum are extremely rare, with only 60 cases reported in the world literature. We report two patients with cystic duplications of the rectum who underwent surgical intervention in our institution during the past 10 years. A 5-year-old white male presented with constipation and tenesmus as well as a 4-cm cystic mass that protruded from the anus when he strained to pass stool. Rectal examination and ultrasound suggested the clinical diagnosis of rectal duplication. Transanal submucosal resection of a 3-cm cystic mass adherent to the posterior rectal wall was carried out. Histologic examination revealed a rectal duplication containing zones of ciliated respiratory epithelium. The second patient, a 6-year-old white female, presented with a history of chronic constipation. A large, cystic presacral mass was detected by rectal examination and confirmed by CT scan. Complete submucosal resection of the cystic duplication was performed through a posterior trans-sacral approach. Histology revealed a rectal duplication lined by respiratory epithelium. Although duplications are generally lined by mucosa of the adjacent bowel, heterotopic mucosa, most commonly gastric or pancreatic, may be present. Rectal duplications with ectopic gastric mucosa have been previously described, but to our knowledge the presence of respiratory epithelium in a rectal duplication has never been reported. Complete resection of these lesions results in cure.Presented at the 21st Annual Meeting Canadian Association of Paediatric Surgeons Edmonton, Alberta, Canada September 21–23, 1989 Offprint requests to: A. L. Bensousson     

Prenatal detection of isolated gastric duplication cyst

We present a rare case of gastric duplication cyst that was suspected prenatally. A routine prenatal ultrasonography (US) showed an abdominal cyst with peristalsis and a provisional diagnosis of enteric duplication was made. A healthy male infant was born at 39 weeks gestation and postnatal US identified a cyst, 5×3×2 cm in size, adjacent to the pancreas. At laparotomy, a cyst was found located in the lesser sac, but completely separated from the stomach, and partially adhered to the body of the pancreas and the crura of the diaphragm. Total excision of the cyst was successful. Histopathologic examination confirmed that the cyst wall consisted solely of normal gastric tissue with erosions. To the best of our knowledge, this is the first report of an isolated gastric duplication cyst that was detected prenatally and resected during the neonatal period.     

Laparoscopic excision of complete bladder duplication in a 1-year-old male

Objective

Complete bladder duplication is a male predominant rare congenital malformation usually diagnosed at birth. Owing to the rarity of this anomaly, only few reports have discussed the surgical approach for this condition, with the open approach for excision being the most common. We hereby present a video of a laparoscopic resection of complete bladder and urethral duplication in a 1-year-old male.

Duplicated proctodeum

A 3-month-old female infant was noted to have two near mirror image anal openings: an anterior, normally sited, anus and a posterior duplicated proctodeum. Ultrasound and X-rays were normal. Contrast X-ray showed 2-cm long non-communicating proctodeal duplication. She underwent EUA, proctoscopy, stimulation of sphincter and transproctodeal excision of the duplication and external sphincter reconstruction with excellent cosmetic and functional results.     

Pyloric duplication in children

Pyloric duplication is a rare anomaly of the gastrointestinal tract and an unusual cause of gastric outlet obstruction in infancy. Vomiting, weight loss, and a palpable mass are the main clinical findings. We present two cases successfully treated by different surgical approaches. Offprint requests to: J. G. Mogilner     

Diphallus: Report on Six Cases and Review of the Literature

Background

Diphallus is an extremely rare anomaly. Numerous associated genitourinary, gastrointestinal and other anomalies have been described with diphallus. These patients need several investigations, and finally surgical intervention.

Cases Presentation

In this report we discuss six patients with diphallus which evaluated retrospectively. Five patients had complete diphallia, and one had bifid diphallus. Meatus was normal in 3, hypospadiac in 2, and epispadiac in one patient. The most common associated anomaly was bifid scrotum (5 cases), and other common anomalies consisted of bladder duplication (3 cases), imperforate anus (2 cases), and hypospadias (2 cases). Phalloplasty was performed for all but one.

Conclusion

All the patients with urethral duplication have to be evaluated carefully because of the high incidence of other systemic anomalies.     

Anal canal duplication: a retrospective analysis of 12 cases from two European pediatric surgical departments

Anal canal duplication (ACD) represents an extremely rare intestinal congenital anomaly of unknown origin. Usually evidenced within 2 years of age, nearly 45% of reported cases present associated malformations such as presacral mass, anorectal malformation (ARM) and genitourinary anomalies. The confirmative diagnosis is istopathological, with evidence of an anal mucosal lining (squamous ± transitional epithelium), surrounded from a smooth muscle coat and anal glands. We review a conjoined experience from two European pediatric surgical departments. From 1970 to 2005, 12 patients were observed, seven in Pescara, Italy (1997–2005), five in Barcelona, Spain (1970–2004)—mean age at diagnosis 17.8 months, range 0–60; M:F = 1:11. Clinical presentation, diagnostic-surgical approach, and complications were reviewed. According to clinical presentation, patients could be divided in three age groups: asymptomatic (mean age 4.8 months, six patients—one with an associated complex genitourinary malformation, one with a presacral mature teratoma, one with ACD evidenced hysthologically on a retroanal mass removed during the correction of an ARM), mildly symptomatic—constipation, mucous discharge (mean age 29.2 months, four patients—one with associated presacral ependymoma and intestinal neuronal dysplasia type B, one with presacral mass) and complicated—perineal abscess, recurrent fistula (mean age 34 months, two patients). In 11 cases a perianal orifice was evident (ten posteriorly located). The pelvic-MRI was the preferred diagnostic tool in Pescara (5/7, with presacral mass in two patients), fistulography in Barcelona (5/5), where one presacral mass was discovered intraoperatively. Eleven patients underwent surgical removal of the ACD (five perineal approach, five posterior sagittal approach, and one PSARP). Histopathological findings confirmed the diagnosis in operated cases (11). The parents of the male patient denied the consent to surgical treatment. The only major post-operative complication was a sphincteric insufficiency (one case), surgically treated. When facing a perianal orifice, attention should be paid to ACD, particularly in female patients with coexistent genitourinary or intestinal malformations. Pelvic US and MRI are the gold standard to evidence the not rarely associated presacral mass. Surgical early removal (mucosectomy or perineal/posterior sagittal approach, depending on length of ACD and associated presacral mass) is warranted, also in asymptomatic patients, because of the risk of inflammatory complications and cancer (the latter reported in literature in adults).     

A rare presentation of abortive epispadiac urethral duplication and vanishing midurethra

We report a 4-year-old boy with a hitherto undescribed case of abortive epispadiac duplication of the urethra presenting as a blind-ending penopubic sinus proximally and a mucosa-lined groove overlying the glanular corona distally but with absent midurethra. The patient was treated for cosmetic reasons with good results. A plausible embryological genesis of this defect is discussed.     

Asymptomatic gastric duplication in a child: report of a new case and review of the literature

Antral duplication cyst with an antral mucosal lining accounts for 2.2% of all gastric duplications, which represent 4–8% of all alimentary tract duplications. They usually become symptomatic before 2 years of age. We report a 6-year-old child with no previous history of symptoms who was admitted to our hospital because of frequent vomiting and acute abdominal pains for the previous 2 days. Abdominal examination revealed a mass in the epigastric area.     

Horner's syndrome and bilateral esophageal duplications

Bilateral esophageal duplications are exceptionally rare. A 3-month-old male presented with a left-sided Horner's syndrome. Upon further investigation, bilateral upper thoracic masses with an air-fluid level within the right-sided mass were found. Sequential thoracotomies at 1-week intervals confirmed the presence of bilateral esophageal duplications. At 1 year of age the patient is growing normally and is asymptomatic except for a persistent Horner's syndrome. We believe this to be the first case of bilateral esophageal duplication cysts presenting with Horner's syndrome.     

Rectal duplications accompanying rectovestibular fistula: Report of two cases

Rectal duplication (RD) cysts are rare congenital anomalies that can be diagnosed with the presence of another opening in the perineum. They seldom accompany anorectal malformations (ARM). Two cases of RD accompanying ARM at opposite ends of the phenotypic spectrum, are described. A 3‐month‐old baby and a 2‐year‐old girl with ARM were scheduled for posterior sagittal anorectoplasty. The infant had an orifice at the anal dimple and the other had an orifice at the vestibulum posterior to the rectovestibular fistula. The infant presented with no other anomalies whereas the older one presented with an unusual coexistence of caudal duplication and caudal regression syndromes. Perioperatively both orifices were found to be related to retrorectal cysts, and were excised. Clinicians should always be alert when dealing with complex malformations. Because these malformations have variable anatomical and clinical presentations, they can represent a diagnostic and therapeutic challenge.     

Anterior colorectal duplication presenting as rectal prolapse

Duplications of the gastrointestinal (GI) tract are rare. Only 5% of them are rectal and there are very few reports of rectal prolapse (RP) caused by a duplication. An 11 month-old female presented with a RP caused by a blind-ended anterior tubular colorectal duplication. The duplication was successfully opened and connected to the normal rectum without complications. Although infrequent, a rectal duplication should be considered in the differential diagnosis of RP.     

Diphallus with Imperforate Anus and Complete Duplication of Recto-Sigmoid Colon and Lower Urinary Tract

Background

Diphallus is a rare anomaly and accompanying anomalies vary from bifid scrotum, bladder exstrophy, imperforate anus and colo-rectal anomaly such as duplication, and other associated anomalies.

Case Presentation

A 2-day old infant is reported with imperforate anus and complete duplication of recto-sigmoid colon, rectal pouch, doubling of the genitalia with completely formed penis (diphallus), double bladder, urethra and hypospadias. No family history of abnormalities was noted. The patient underwent several operations: laparatory and colostomy at 3rd day of life, and after clinical and paraclinical investigations, cystoplasty, ureteral reimplantation and resection of left phallus were carried out when 4 months old. At the age of 1 year, after colostogram and total colon evaluation, laparatomy, resection of duplicated recto-sigmoid colon, and pull-through was carried out; 3 months later colostomy closure was performed and the patient discharged without complications.

Conclusion

The patients with diphallus have to be examined carefully because of the high incidence of other systemic anomalies. Treatment of diphallus usually includes excision of the duplicated penile structure, its urethra, and repair of associated anomalies.     

Anal-canal duplication in a 6-year-old child

 A 6-year-old girl with an anal deformity had been complaining of pruritus around the anus. A small pit at 6 o'clock was diagnosed as an anal duplication. Fistulography showed a 0.5-cm-depth fistula without communication to the rectum. A 1.5-cm diameter presacral mass was shown on computed tomography. There was no sacral anomaly. At fistulectomy, the fistula contained mucous, yellow-white fluid. The base was enlarged, probably because of inflammation, but was resected without any invasion of the rectum. Histology showed squamous epithelium on the surface of the fistula and columnar epithelium and goblet cells in the base, which confirmed the diagnosis of an anal-canal duplication. Accepted: 20 March 2001     

Common bile duct perforation resulting from a gastric duplication cyst

Gastric duplication cysts are a rare cause of abdominal masses in infants. Most children present with a gastric outlet obstruction or some vague abdominal complaints. We present an unusual case of a gastric duplication cyst that created a distal common bile duct obstruction which led to a proximal common bile duct perforation.     

Complete tubular side-by-side duplication of the colon and distal ileum

Tubular colonic duplications occur as a wide clinical spectrum and are often accompanied by pairing of other midline structures of the posterior part of the body. We present a case of the less frequent and apparently less severe variety. The surgical treatment should preserve as much colonic length as possible.     

Polyorchidism

Polyorchidism is defined as the presence of more than two testes. We report the case of a 3-year-old boy and review the embryology and surgical management of the condition. Accepted: 22 October 1996     

Giant intra-abdominal cyst in a 13-year-old girl

A case of a massive unilocular intra-abdominal cyst arising in a 13-year-old girl is presented. This appeared to be a foregut duplication cyst of gastric origin, and thus one of the largest recorded in the literature. Accepted: 7 July 1998     

Cystic rectal duplication: a rare cause of neonatal intestinal obstruction

A case of cystic rectal duplication revealed on day 2 of life by a low intestinal occluding syndrome is reported. Radiologic imaging (ultrasonography, cystography, rectography) showed a large, retrorectal liquid formation in the pelvis and abdomen, with pelvic compression of the terminal alimentary canal and lower urinary tract. Magnetic resonance imaging demonstrated a liquid formation with clearly defined edges and no medullary involvement, thus ruling out the possibility of a previous meningeal hernia. Biological markers were within normal limits. On day 4, a 9 × 6-cm cystic rectal duplication was removed, followed by a temporary colostomy. Pathologic examination demonstrated typical rectal architecture with ciliated cells. Radiologic and clinical findings at 2-month follow-up were reassuring. This case report is exceptional for the following reasons: (1) As a rule, rectal duplications are relatively rare (70 cases reported in the literature); (2) The means of disclosing a neonatal rectal duplication is unusual (4 cases reported in the literature); (3) The volume of the malformation was considerable; and (4) Heterotopic ciliated epithelium was present.