Rectal duplication cyst causing acute urinary retention with bladder outlet obstruction: an unusual presentation.

Anterior rectal duplication cyst is rare entity with <50 reported cases to date. It has myriad presentations like bleeding per rectum, constipation, rectal prolapsed and intestinal obstruction due to extrinsic compression of rectum. However, the association of enlarged duplication cyst compressing the bladder neck or ureter, and leading to bladder outlet obstruction or hydroureteronephrosis is extremely rare with only a handful of reported cases. We report a rare case of large anterior rectal duplication cyst in a young girl leading to acute urinary retention with bladder outlet obstruction which was eventually managed by laparoscopic-assisted transabdominal surgical excision of the cyst. The authors believe that such an association has not been previously reported in this age group.

Tailgut cyst: report of three cases and review of the literature.

INTRODUCTION: Tailgut cysts or retrorectal cystic hamartomas are congenital developmental lesions which are often misdiagnosed due to their rare incidence, anatomical position and variable clinical presentation. CASE REPORT: We report three clinical cases: one of a 67-year old woman with high fever and anal bulging; the second case was a 50-year old woman with diffuse abdominal pain and the third case was a 52-year old woman with high fever and no abdominal or rectal pain. The rectal examination and MRI indicated the presence of a tailgut cyst. In all the cases a complete resection through a posterior perineal route was performed. Histopathological examination confirmed the diagnosis of a tailgut cyst, with a malignant component identified in the third case. DISCUSSION: The discussion presents a brief review of the relevant information described in the literature to highlight the cornerstones for appropriate diagnosis and treatment of a tailgut cyst. Tailgut cysts are to be considered in the differential diagnosis of retrorectal or presacral masses as malignant transformation can occur.

Multimodality Imaging Review of Anorectal and Perirectal Diseases with Clinical, Histologic, Endoscopic, and Operative Correlation, Part II: Infectious, Inflammatory, Congenital, and Vascular Conditions.

A broad spectrum of pathology affects the rectum, anus, and perineum, and multiple imaging modalities are complementary to physical examination for assessment and treatment planning. In this pictorial essay, correlative imaging, endoscopic, pathologic, and operative images are presented for a range of rectal, perirectal, and perineal disease processes, including infectious/inflammatory, traumatic, congenital/developmental, vascular, and miscellaneous conditions. Key anatomic and surgical concepts are discussed, including radiological information pertinent for surgical planning, and current operative approaches of these anatomic spaces to assist radiologists in comprehensive reporting for gastroenterologists and surgeons.

Histopathological Diagnostic Dilemma in Retrorectal Developmental Cysts: Report of a Case and Review of the Literature.

Retrorectal developmental cysts are lesions that are classified according to their histopathological characteristics and origins. The major types are epidermoid cyst, dermoid cyst, rectal duplication cyst, rectal cystic hamartoma and teratoma. These cysts grow slowly and the majority of cases are asymptomatic. Total excision is required and histopathological examination should be carefully performed for retrorectal localized developmental cysts, since the cystic lesions may show malignant transformation. Here, a 3-year-old male patient with retrorectal mass, which was histopathologically compatible with tailgut cyst, is presented and the differential diagnosis of retrorectal developmental cysts is discussed.

Rectal Duplication Cyst: A Rare Cause of Rectal Prolapse in a Toddler.

Rectal duplication cysts are rare congenital anomalies. They constitute only 4% of the total gastrointestinal anomalies. They usually present in childhood. The common presenting symptoms are mass or pressure effects like constipation, tenesmus, urinary retention, local infection or bleeding due to presence of ectopic gastric mucosa. We are reporting a rare presenting symptom of rectal duplication cyst in a 4-year-old boy/toddler who presented with rectal prolapse. He also had bleeding per rectum. Rectal examination revealed a soft mass palpable in the posterior rectal wall. CT scan showed a cystic mass in the posterior wall of the rectum. It was excised trans-anally and the postoperative recovery was uneventful. Biopsy report showed rectal duplication cyst.

Imaging of tailgut cysts.

Tailgut cysts are congenital lesions that arise from the primitive hindgut in the true embryonic tail but fail to regress during gestation. These lesions are rare and more frequently encountered later in life and more commonly in women, and are the most common primary retrorectal tumor. Tailgut cysts may be asymptomatic or cause rectal bleeding, pain, or symptoms related to mass effect on the rectum or bladder. Pathologically, tailgut cysts are typically multilocular, lined with a variety of epithelial cell types, and are most frequently benign. Imaging is the linchpin of diagnosis due risks associated with biopsy. The purpose of this pictorial review is to present the spectrum of imaging findings associated with tailgut cysts on CT and MRI with focus on the use of advanced MRI and diffusion-weighted imaging. We present case examples of tailgut cysts, their CT and MR imaging findings, and diagnostic and management considerations.

Management of tailgut cysts in a tertiary referral centre: a 10-year experience.

AIM: Tailgut cysts are rare congenital lesions typically presenting as presacral masses. A variable clinical presentation often leads to misdiagnosis and unsuccessful operations. METHOD: A retrospective analysis was performed of tailgut cysts presenting to one surgeon at St Mark's hospital between 2003 and 2013. The patient demographic data and clinicopathological and radiological features, together with perioperative details and recurrence, were reviewed. RESULTS: A total of 17 patients (15 women) with a median age of 35 (21-64) years were included in the study. The mean duration of symptoms before referral was 40 months, with sepsis predominating in 12 cases. Fifteen of the patients had previously undergone surgery (mean 2.9 procedures). A posterior surgical approach was adopted in all patients with a coccygectomy performed in 13. A loop colostomy was formed in three patients. Two of them went on to have a secondary pull-through operation after an initial failed local repair of rectal injury. One case was reported to show malignant degeneration on histological examination. There was one recurrence during a median follow-up period of 13 (3-36) months. CONCLUSION: Tailgut cysts are an uncommon yet important cause of chronic perianal sepsis. Suspicion should be raised in a patient, usually female, presenting with a history of unsuccessful procedures. Diagnosis can be made by clinical assessment and MRI. Complete excision usually resolves the problem.

[Descending perineum syndrome in children: Pathophysiology and diagnosis].

Objective: To propose a safer, simpler, and more exact method for the diagnosis of descending perineum syndrome (DPS). Material and Methods: A total of 194 patients aged 5 days to 15 years were examined and divided into 2 groups: Group 1 consisted of 65 patients without anorectal anomalies (AA); Group 2 comprised 129 patients, including 66 children with functional constipation, 55 with AA and visible fistulas, who were preoperatively examined, and 8 patients with anorectal angle (ARA), who were postoperatively examined. All the patients underwent irrigoscopy that was different from standard examination in the presence of X-ray CT contrast marker near the anus. Results and Conclusion: DPS is caused by puborectalis muscle dysfunction. A method was proposed to evaluate the status of the puborectalis muscle from the distance between the position of the ARA and the marker near the anus. This not only promotes an exacter estimate of DPS, but also allows refusal of defecography. The use of a barium enema with the minimum number of X-ray films decreases dose of ionizing radiation hazard and permits the use of this procedure not only in adults, but also in children with chronic constipation, fecal incontinence, and in AA for both pre- and postoperatively assessment of the causes of complications.

Large presacral tailgut cyst with a carcinoid tumor in a male: report of a case.

Tailgut cysts are developmental hamartomas found in the presacral space. They are usually detected incidentally during physical examinations or imaging studies. However, they may cause symptoms due to compression of nearby organs. Due to their potential malignant transformation, surgical resection is warranted, while routine biopsy is considered controversial because of the concern about infection of the tailgut cyst and needle-track implantation of malignant cells. The co-existence of a carcinoid in a tailgut cyst is extremely rare. Only 16 cases have been reported previously, the vast majority of which were found in females. We herein present the case of a carcinoid in a tailgut cyst found in a male patient, discuss the potential pathogenesis of tailgut carcinoids, and underline the fact that their previous consideration of the condition as a female-restricted entity should be rejected.

Rectal duplication: a case report.

Gastrointestinal tract duplications are uncommon congenital abnormalities, that may occur anywhere along the alimentary tract. Most frequently they occur at the level of the small bowel tract and are symptomatic before the age of two. In our case we report the history of a 68-years old women with a colon duplication, especially a rectal duplication. This is very exceptional.

RareICT: a web-based resource to augment self-care and independence with a rare medical condition.

OBJECTIVE: Everyday challenges to "live well" with a rare disorder, anorectal anomaly, was the starting point to design a social-software environment, called RareICT, to help patients and family members in their everyday, additional un-paid work. PARTICIPANTS: Persons with the rare disorder, family members and health providers were recruited to elaborate challenges to daily living given this condition. METHODS: An exploratory study was designed, and we set up a series of participatory design workshops to explore challenges to everyday living with a rare medical condition. RESULTS: Anorectal anomaly has few visible outward signs, and is often surrounded with secrecies. Findings shed light on efforts to maintain physical functioning, psychosocial and emotional wellbeing. For an affected person to "live well" modifications to everyday routines, along with management work, support work and planning work are required. Accumulating practical strategies, everyday experiences and knowledge, along with virtual access to peers may augment such health maintenance work if integrity, accountability and trust, confidentiality and privacy are maintained. CONCLUSION: A social-software environment was set up to offer co-evolving content and augment health-related decision-making at home. To evaluate the project will focus on interest in maintaining participation determined and how users benefit from services such as RareICT.

Long-term disease-specific quality of life in adult anorectal malformation patients.

BACKGROUND: Fecal and urinary incontinence may differently influence various aspects of quality of life (QOL). The main aim of the present study is to determine whether fecal and urinary incontinence measured at time 1 of the study will predict QOL at time 2 (after 4 years), above and beyond the prediction already explained by fecal and urinary incontinence at time 2. METHODS: Thirty-six adult patients from the Italian Parents' and Patients' Association for Anorectal Malformations answered items about urinary and fecal incontinence at time 1 of the study and completed the Hirschsprung Disease/Anorectal Malformation Quality of Life questionnaire after 4 years from the first questionnaire. Two sets of hierarchical regression analyses were conducted with fecal and urinary incontinence serving as predictors of QOL and the different areas of QOL from the Hirschsprung Disease/Anorectal Malformation Quality of Life serving as outcome variables. RESULTS: The principal findings indicated that fecal continence is a strong predictor of QOL in the areas of social functioning, emotional functioning, and body image and that urinary incontinence predicted sexual functioning. CONCLUSIONS: It seems that one's past experience with fecal incontinence is extremely relevant to current QOL, especially for body image. Urinary incontinence contributed less in explaining QOL in our patients, but because it is very relevant for sexual functioning, it should not be disregarded.

[Primary metastatic well-differentiated neuroendocrine tumor arising in a tailgut cyst]. / Primär metastasierter hochdifferenzierter neuroendokriner Tumor in einer Tailgut-Zyste.

Tailgut cysts are unusual benign cystic retrorectal malformations arising from persistent remnants of the postanal gut. Malignant transformation within this dysontogenetic lesion is very uncommon. We report the rare occurrence of a neuroendocrine tumor arising in a tailgut cyst with primary liver and lymph node metastases in a 55-year-old woman. The neuroendocrine differentiation of the tumor determines the therapeutic approach and prognosis.

The morbidity of constipation in patients with anorectal malformations.

BACKGROUND: Constipation in anorectal malformations (ARM) is extremely common, particularly in the lower types. Failure to adequately treat it can lead to significant morbidity. METHODS: From our series of over 2000 patients with ARM, we reviewed 398 with good prognosis for bowel control and a tendency toward constipation; rectoperineal fistula (63), rectovestibular fistula (114), rectobulbar urethral fistula (104), imperforate anus with no fistula (46), rectal atresia or stenosis (9), and cloaca with a common channel below 3 cm (62). Those lost to follow-up, not yet toilet-trained (<3 years old), or with poor prognostic features were excluded. We compared morbidities in patients we operated on and managed primarily (group A, n = 268) to those managed at other institutions who suffered from constipation or incontinence and were referred to us for treatment (group B, n = 130). Those we managed primarily were subjected to an aggressive senna-based laxative program, started after their primary repair or after colostomy closure. RESULTS: Morbidities associated with constipation were higher in the referral group and included fecal impaction (7.8% vs 38.5%), overflow pseudoincontinence (4.9% vs 33.8%), and megacolon (14.6% vs 54.6%). A loop or transverse colostomy (4.9% vs 9.2%), stoma or anorectal stricture, or a stenotic fistula (2.2% vs 28.5%) were contributing factors. Adequate laxative treatment with, in certain cases, resection of a megarectosigmoid (2.6% vs 23.1%) enabled many pseudoincontinent children to achieve bowel control (reported previously). Unneeded colorectal biopsies (1.9% vs 16.2%), Hirschsprung's-type pullthroughs (0% vs 3.1%), and, in retrospect, unneeded antegrade continent enema procedures (0% vs 3.1%) were higher in Group B. Overall, 19.8% of Group A and 66.2% of Group B experienced constipation-related morbidities. CONCLUSION: The morbidity of constipation in ARM includes fecal impaction, megacolon, incontinence, and performance of unneeded surgeries. Inadequate treatment, the type of the original colostomy, and postoperative anal or stomal stricture as well as stenotic fistulae were key contributing factors. Children with ARM and good prognosis for bowel control are at the greatest risk for severe constipation and its consequences. With recognition and aggressive, proactive treatment, we have found that these morbidities can be reduced.

Posterior cloaca--further experience and guidelines for the treatment of an unusual anorectal malformation.

INTRODUCTION: The term posterior cloaca refers to a malformation in which the urethra and vagina are fused, forming a urogenital sinus that deviates posteriorly to open in the anterior rectal wall or immediately anterior to the anus. METHODS: A retrospective review of 411 patients diagnosed with cloaca was performed to identify the ones with a posterior cloaca. Special emphasis was placed on anatomy, diagnosis, associated anomalies, and outcome in terms of urinary and fecal continence. Surgical treatment was a total urogenital mobilization with a transrectal approach. RESULTS: Twenty-nine patients were diagnosed with a posterior cloaca. Of these, 15 had a single orifice at the normal location of the anus with the urogenital sinus opening in the anterior rectal wall. Fourteen had the urogenital sinus opening immediately anterior to the normally located anal opening (2 orifices), which we considered a posterior cloaca variant. Nineteen patients (65%) had hydrocolpos. Twenty-seven patients (93%) had associated urologic anomalies, 12 patients (41%) had gynecologic anomalies, and vertebral malformations occurred in 41% of cases. Other anomalies included gastrointestinal (7 patients), cardiac (5), and tethered cord (2). Late diagnosis occurred in 2 patients. Twenty patients were available for long-term follow-up: 17 are fecally continent, 3 are fecally incontinent, 11 are urinary continent, 5 are dry with intermittent catheterization, and 4 have dribble urine. CONCLUSION: The most important characteristic of the posterior cloaca is the high frequency of a normal anus, which differentiates this malformation from the classic cloaca. Often, many associated malformations are present and therefore should be suspected and diagnosed. The main goal during the operation should be to not mobilize the anus and thereby preserve the anal canal. A total urogenital mobilization, transperineally or with a transanorectal approach, is ideal for the repair.

Hydrocolpos in cloacal malformations.

INTRODUCTION: Hydrocolpos is a condition rarely mentioned in the literature. The purpose of this report is to increase the index of suspicion for hydrocolpos in patients with cloaca and to describe our approach for its treatment with the hope that errors in the management of hydrocolpos can be avoided. METHODS: We reviewed 411 medical records of patients diagnosed with cloaca and managed at our Center during the last 26 years. Emphasis was placed on evaluating for the presence of hydrocolpos, type of drainage, and complications related to the persistence of the hydrocolpos. RESULTS: One hundred seventeen cloaca patients had an associated hydrocolpos (28.4%). Forty-two cases (36%) were initially managed at other institutions at which the hydrocolpos was not drained. Complications experienced by this group included: multiple urinary tract infections (8), hydrocolpos infection (7), sepsis (7), failure to thrive (6), ruptured hydrocolpos (4), and development of hydronephrosis in previously normal kidneys (2). Forty-one patients (35%) had other modalities of treatment, aimed to drain the hydrocolpos, including vesicostomy (26), intermittent perineal catheterization (8), single aspiration (6), or plasty of the perineal orifice (1). In all of these cases, the hydrocolpos persisted or reaccumulated. Thirty-four patients (29%) underwent an effective drainage of the hydrocolpos at birth; 29 at other institutions, 15 with a tube vaginostomy, 13 with a tubeless vaginostomy, and 1 with a catheter placed and left in the vagina through cystoscopy. Five cases had a tube vaginostomy done by us. In all these cases, the vagina remained adequately drained as demonstrated radiologically. Proper drainage of the hydrocolpos alone, with no urologic intervention, dramatically improved the hydronephrosis in 13 cases. CONCLUSIONS: Hydrocolpos in patients with cloacas must be diagnosed and treated early in life. Our preferred approach is a transabdominal indwelling vaginostomy tube. The drainage of the hydrocolpos alone may dramatically improve the hydronephrosis, and therefore, we suggest that only after the hydrocolpos is drained should a urological intervention be contemplated. Failure to drain the hydrocolpos can result in serious complications.

Laparoscopic-assisted pull-through for congenital rectal stenosis.

Congenital rectal stenosis is a rare condition. In this article, we report on a 30-day-old infant with rectal stenosis who underwent a successful laparoscopic pull-through operation. The laparoscopic method allows the surgeon to mobilize the rectum within the muscle complex without the division of any muscles of continence.