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Anorectal malformation with a rectal-urethral-scrotal fistula is rare. There is only one other case series that describe diagnosis and management of this disease. Cases: This case series details presentation, diagnosis and management of two cases of this anomaly. After diversion, fluoroscopic studies were required to accurately assess the fistulous tract from the scrotum to the urethra and the rectum. Once the diagnosis was made, formal PSARP was performed and the colostomy was reversed thereafter. Aside from constipation, both patients have done well. Conclusion: These cases highlight the importance of high suspicion for this type of unusual anorectal malformation when male patients present with scrotal fistula.

Introduction: Rectal duplication is a rare condition with less than 100 cases documented in the literature. There are eleven reported cases of rectal duplication and anorectal malformation occurring concurrently. We present one such case with intraoperative discovery of the duplication and discuss intraoperative techniques and postoperative management. Case Presentation: A term male was transferred to our institution with an anorectal malformation noted on exam. Routine prenatal imaging had revealed an absent right kidney without any other anatomic abnormalities noted. Physical exam revealed a perineal fistula anterior to the sphincter complex. The patient was initially managed with twice daily dilations of the fistula until 2 months of life. He was then taken to the operating room for planned posterior sagittal anorectoplasty (PSARP). Intraoperatively, a blind ending tubular duplication was discovered anterior to the true rectum. This was managed with creation of a common channel and tapering rectoplasty followed by completion of the anoplasty. A diverting loop ileostomy was performed. Prior to ileostomy closure at 6 months of life, a contrast enema was performed and demonstrated that the duplication extended to the level of the splenic flexure. A Tc99 scan was obtained to rule out ectopic gastric mucosa. Conclusion: This case illustrates a rare presentation and operative management of a colon and rectal duplication associated with an anorectal malformation and emphasizes the importance of adequate mobilization of the rectal fistula when performing a PSARP. Level Of Evidence: Level V

Introduction: Here we report an infant with a 46,XY karyotype and novel de novo PPP1R12A stop-loss variant with a concomitant anorectal malformation (ARM) and difference in sex development (DSD). Case report: This is an infant born with ambiguous genitalia and rectoperineal fistula. Genetic testing confirmed a 46,XY chromosomal complement and whole exome sequencing demonstrated a novel de novo heterozygous PPP1R12A stop-loss variant. The infant underwent tapering jejunoplasty, proximal jejunostomy and mucous fistula creation for jejunal atresia and posterior sagittal anorectoplasty for the ARM. The gonad will be addressed with a biopsy and orchiopexy when the infant reaches six months of age. Conclusion: Although Müllerian anomalies and hypospadias may be common with ARM, a true DSD of this nature is exceedingly rare. Multidisciplinary care with urology, endocrinology, genetics, and colorectal surgery is paramount to providing optimal care for this patient.

Introduction: Congenital pouch colon (CPC) is a congenital malformation of the large bowel in which the entire large bowel or segments of varying lengths of the large bowel exhibit enormous dilatations in the form of a pouch communicating distally through a fistula with the urogenital system. CPC shows male predominance and is mainly present in the early neonatal period with the absence of anus and intestinal obstruction. We report a case of Type 2 CPC in a 16-day-old male child presenting with abdominal distension and non-passing of stool. Presentation of the case: A 16-day-old male presented with his parents with abdominal distension and an imperforate anus. A plain abdominal X-ray revealed multiple dilated bowel loops. Exploratory laparotomy revealed a Type 2 CPC. The patient was treated via 2 staged surgery and his clinical condition was stable after surgery and is being followed in 3 monthly-basis. Clinical discussion: CPC is a rare condition with male predominance and is suspected in a patient with abdominal distension and an imperforate anus. Surgical management of CPC and the outcome, as well as overall prognosis, mainly depend on the type of CPC, the length of the affected colon, type of perineum, and anorectal muscle complexity, as well as other congenital associations. Conclusion: Though being a rare syndrome, CPC must be kept as a differential diagnosis for abdominal distension and must be taken into consideration when anorectal malformation is present.

Wolf-Hirschhorn Syndrome (WHS) is a rare genetic disorder caused by a partial deletion of the short arm of chromosome 4 (4p-). First described in 1961, this syndrome has a 2:1 female predominance and an estimated frequency of 1/50,000–1/20,000. The phenotypic spectrum of WHS is wide and encompasses multiple organ systems including intrauterine growth restriction, distinctive craniofacial anomalies, global developmental delay and intellectual disability. We present the case of a hispanic male who was born at 39 WGA via C-Section to a 28 y/o G3P1A1 mother without past medical history. The patient experienced intrauterine growth restriction which triggered further prenatal evaluation revealing a 36.14 mb terminal deletion of 4p16.3- > p14 and he was diagnosed with Wolf-Hirschhorn Syndrome. At birth, physical exam was remarkable for a wide nose, cleft lip and cleft palate, hypertelorism, micrognathia, and bilateral corneal clouding. Musculoskeletal exam showed bilateral clubbed feet and genitourinary exam revealed, bifid scrotum with undescended testes. Anorectal examination was pertinent for an imperforate anus without associated fistulas or abscess. After chest x-ray, abdominopelvic ultrasound and echocardiogram ruled out any major contraindication for surgery, he was managed with end colostomy and mucus fistula for fecal diversion. Due to history of poor feedings during the postnatal period, gastrostomy tube placement was also performed. The patient was discharged home at day 26 without immediate postoperative complications. We herein present possibly the first case of a male with WHS born with an imperforate anus that was managed surgically with end colostomy and mucus fistula. This case underscores the complexity and severity of WHS, by adding to its myriad of clinical manifestations and emphasizing the importance of reporting novel presentations and their management to improve care strategies for patients with WHS. [ABSTRACT FROM AUTHOR]

The authors report an isolated imperforate anus case in a dizygotic twin, which is the first reported case in the literature, the other reported cases were in monozygotic twins. The literature review points to a multifactorial etiology in which environmental triggers interact with genetic susceptibility; in most of these cases, the defect was low in monozygotic twins, as in this dizygotic twin's case. Numerous documented familial cases pointed to an underlying genetic characteristic that is still mostly unknown, but all these cases presented as monozygotic twins, which supports the genetic factor. Our case was the first reported case in the literature of a dizygotic twin with an isolated imperforate anus who has an older sibling who presented at birth with anal stenosis.

We present the case of a late preterm infant with prenatal concerns for a cloacal anomaly with dilation of bowel and a small bladder. After birth the infant was found to have a presumed uterus didelphys, patent urachus, imperforate anus and total colonic agenesis. This constellation of clinical findings is not described in the literature and no syndrome fits this description. A chromosomal microarray showed a female with normal copy number. It remains unknown if these findings are associated with a syndrome not previously known or occurred as spontaneous changes.

Background: Hirschsprung disease and anorectal malformations are two conditions that are rarely associated with one another. Current reports of anorectal malformations with concurrent Hirschsprung disease predominantly describe children with genetic syndromes or other chromosomal anomalies. This report describes a case of imperforate anus and Hirschsprung disease in an otherwise healthy patient highlighting the importance of considering Hirschsprung disease in any patient with stooling difficulties following anorectoplasty for anorectal malformation.

Background: Covered cloacal extrophy (CCE) is extremely rare condition. It requires a high index of suspicion for its diagnosis. External features are quite similar to that of common cloaca i.e. intact lower abdominal wall and single perineal opening whereas visceral features are similar to cloacal extrophy (CE). Case presentation: 3 day old female neonate presented to the emergency department with single perineal opening and stool coming out of umbilicus as well as perineal opening. Abdominal wall was intact. After detailed workup, she underwent exploratory laparotomy and was diagnosed as covered cloacal extrophy. Conclusion: Wide spectrum of cloacal malformation makes covered cloacal extrophy a diagnostic challenge and early diagnosis is helpful in strategizing future reconstructions.

Anorectal malformation with a rectal-urethral-scrotal fistula is rare. There is only one other case series that describe diagnosis and management of this disease. This case series details presentation, diagnosis and management of two cases of this anomaly. After diversion, fluoroscopic studies were required to accurately assess the fistulous tract from the scrotum to the urethra and the rectum. Once the diagnosis was made, formal PSARP was performed and the colostomy was reversed thereafter. Aside from constipation, both patients have done well. These cases highlight the importance of high suspicion for this type of unusual anorectal malformation when male patients present with scrotal fistula. [ABSTRACT FROM AUTHOR]

Abstract Laparoscopically assisted anorectal pull-through (LAARP) is one of the surgical procedures for anorectal malformations (ARM) with rectourethral fistula. However, it is sometimes difficult to obtain favorable laparoscopic view and adequate dissection of fistula. To obtain the tactile sensation of surgeons, 'Finger-assisted' laparoscopic surgery has been introduced for small numbers of pediatric patients. We developed the 'Finger-assisted' technique during LAARP. From 2012 to 2016, three patients with rectoprostatic fistula underwent Finger-assisted LAARP. There was no open conversion or complication. Furthermore, post-operative barium enema revealed the adequate resection of fistula and favorable anterior angulation of the rectum. Finger-assisted LAARP is feasible surgical option for ARM with rectourethral fistula. Highlights • It is sometimes difficult to obtain favorable laparoscopic view of rectourethral fistula. • "Finger-assist" was useful during the laparoscopically assisted anorectal pull through for rectoprostatic fistula. • Finger-assisted laparoscopic surgery remains the both merits of open surgery and laparoscopic surgery. [ABSTRACT FROM AUTHOR]

Rectal duplication is a rare condition with less than 100 cases documented in the literature. There are eleven reported cases of rectal duplication and anorectal malformation occurring concurrently. We present one such case with intraoperative discovery of the duplication and discuss intraoperative techniques and postoperative management. A term male was transferred to our institution with an anorectal malformation noted on exam. Routine prenatal imaging had revealed an absent right kidney without any other anatomic abnormalities noted. Physical exam revealed a perineal fistula anterior to the sphincter complex. The patient was initially managed with twice daily dilations of the fistula until 2 months of life. He was then taken to the operating room for planned posterior sagittal anorectoplasty (PSARP). Intraoperatively, a blind ending tubular duplication was discovered anterior to the true rectum. This was managed with creation of a common channel and tapering rectoplasty followed by completion of the anoplasty. A diverting loop ileostomy was performed. Prior to ileostomy closure at 6 months of life, a contrast enema was performed and demonstrated that the duplication extended to the level of the splenic flexure. A Tc99 scan was obtained to rule out ectopic gastric mucosa. This case illustrates a rare presentation and operative management of a colon and rectal duplication associated with an anorectal malformation and emphasizes the importance of adequate mobilization of the rectal fistula when performing a PSARP. Level V What is currently known about this topic? • Rectal duplication is a rare entity consisting of two types (cystic and tubular). Management of these abnormalities is typically described on a case report basis. What new information is contained in this article? • This article offers a new operative technique for managing a rectal duplication in the setting of a perineal fistula. [ABSTRACT FROM AUTHOR]

Here we report an infant with a 46,XY karyotype and novel de novo PPP1R12A stop-loss variant with a concomitant anorectal malformation (ARM) and difference in sex development (DSD). This is an infant born with ambiguous genitalia and rectoperineal fistula. Genetic testing confirmed a 46,XY chromosomal complement and whole exome sequencing demonstrated a novel de novo heterozygous PPP1R12A stop-loss variant. The infant underwent tapering jejunoplasty, proximal jejunostomy and mucous fistula creation for jejunal atresia and posterior sagittal anorectoplasty for the ARM. The gonad will be addressed with a biopsy and orchiopexy when the infant reaches six months of age. Although Müllerian anomalies and hypospadias may be common with ARM, a true DSD of this nature is exceedingly rare. Multidisciplinary care with urology, endocrinology, genetics, and colorectal surgery is paramount to providing optimal care for this patient. [ABSTRACT FROM AUTHOR]

Congenital pouch colon (CPC) is a congenital malformation of the large bowel in which the entire large bowel or segments of varying lengths of the large bowel exhibit enormous dilatations in the form of a pouch communicating distally through a fistula with the urogenital system. CPC shows male predominance and is mainly present in the early neonatal period with the absence of anus and intestinal obstruction. We report a case of Type 2 CPC in a 16-day-old male child presenting with abdominal distension and non-passing of stool. A 16-day-old male presented with his parents with abdominal distension and an imperforate anus. A plain abdominal X-ray revealed multiple dilated bowel loops. Exploratory laparotomy revealed a Type 2 CPC. The patient was treated via 2 staged surgery and his clinical condition was stable after surgery and is being followed in 3 monthly-basis. CPC is a rare condition with male predominance and is suspected in a patient with abdominal distension and an imperforate anus. Surgical management of CPC and the outcome, as well as overall prognosis, mainly depend on the type of CPC, the length of the affected colon, type of perineum, and anorectal muscle complexity, as well as other congenital associations. Though being a rare syndrome, CPC must be kept as a differential diagnosis for abdominal distension and must be taken into consideration when anorectal malformation is present. • Congenital pouch colon (CPC) is a congenital malformation of the large bowel in which the entire large bowel or segments of varying lengths of the large bowel exhibit enormous dilatations in the form of a pouch communicating distally through a fistula with the urogenital system. • CPC shows male predominance. • Mainly present in the early neonatal period with the absence of anus and intestinal obstruction. • The diagnosis of CPC is challenging due to non-specific symptoms and non-definitive imaging studies. • Surgical management of CPC depends upon the type of CPC, the length of the affected colon, type of perineum, and anorectal muscle complexity, as well as other congenital associations. • Usually, 2 staged surgery is preferred for CPC depending upon its type with an abdomino-perineal pull-through as a definite procedure. • CPC must be considered as an important differential diagnosis of abdominal distension in a patient with an anorectal malformation in the form of an imperforate anus to allow for early diagnosis and management to decrease its morbidity and mortality. [ABSTRACT FROM AUTHOR]

The authors report an isolated imperforate anus case in a dizygotic twin, which is the first reported case in the literature, the other reported cases were in monozygotic twins. The literature review points to a multifactorial etiology in which environmental triggers interact with genetic susceptibility; in most of these cases, the defect was low in monozygotic twins, as in this dizygotic twin's case. Numerous documented familial cases pointed to an underlying genetic characteristic that is still mostly unknown, but all these cases presented as monozygotic twins, which supports the genetic factor. Our case was the first reported case in the literature of a dizygotic twin with an isolated imperforate anus who has an older sibling who presented at birth with anal stenosis. [ABSTRACT FROM AUTHOR]

OHVIRA syndrome (Obstructed hemivagina with ipsilateral renal agenesis) is a rare Mullerian duct anomaly that results in uterine didelphys, obstructed vaginal vault, and unilateral renal agenesis. We report an 11 year old girl with a history of imperforate anus presenting with progressive abdominal pain. This represents the first documented case of OHVIRA syndrome in association with an ano-rectal malformation. [ABSTRACT FROM AUTHOR]

We are describing an extremely rare clinical case of two congenital anomalies coexist simultaneously in a full term 18 months-old girl, known down syndrome with imperforate anus. She underwent PDA closure and divided diverting colostomy at the neonatal period. She had multiple history of pediatric intensive care unit (PICU) admissions due to recurrent bronchial asthma exacerbation and aspiration pneumonia. She presented to the Emergency Department at the age of 14 months with 4 days history of abdominal pain, biliouse emesis, urine retention and scant stoma out-put. On Physical examination, the proximal stoma was patent and functioning well after saline irrigation. Palpable non tender central abdominal mass was found. Radiological investigations revealed a markedly distended rectal pouch extending up to mid abdomen, hydrocolpus was excluded. Exploratory midline laparotomy showed colonic atresia at sigmoid distal to the mucus fistula which was not noticed before. Patient is still awaiting PSARP and closure of colostomy once her general condition improves. Imperforate anus associated with colonic atresia is an extremely rare anomaly with a very few number of cases had been reported in the literature. Being aware of such coexistence might minimize the need for a second laparotomy. [ABSTRACT FROM AUTHOR]

OEIS complex describes a combination of serious birth defects, including omphalocele, exstrophy of the bladder, imperforate anus, and spinal defects. The complex may be associated with birth defects involving almost every organ system. The etiology of OEIS complex is thought to be multifactorial, based on the sporadic nature of most of the reported cases. We report a case of OEIS complex with the classical four major components in a 2-hour old term male baby, delivered by cesarean section to a 37-year-old lady with history of primary infertility and had the pregnancy with the aid of In Vito Fertilization. The baby was one of a set of twins. The other baby was alive and normal. We document the presence of a vesico-enteric fistula between the urinary bladder and the terminal ileum, which is to our best knowledge, a unique association that is not reported in the reviewed studies. We present the immediate neonatal care and surgical intervention that has been done for this newborn. [ABSTRACT FROM AUTHOR]

A primipara presented to our hospital due to fetal ascites, bilateral hydronephrosis and hydrometrocolpos. The female baby had two giant abdominal cysts, a single atrium and foot polydactyly. Absence of the vaginal orifice was noticed, and the hymen was broken through; the left cyst collapsed after fluid drainage. The right cyst was punctured and drained, which improved the hydronephrosis. Contrast imaging showed medium pouring into the abdominal cavity via the uterine tube; the right cyst was a 6 × 5 cm closed cavity. Vaginal uroplania persisted even after hospital discharge. At the age of 4 years, cystoscopy showed a fistulous opening on the urethra 5 mm distal from the internal urethral orifice. A catheter inserted via the opening was found in the vagina. In our case, urine poured into the abdominal cavity through the fistula and uterine tube; following obstruction of the uterine tube, giant hydrometrocolpos and hydrosalpinx appeared. Three cases of congenital urethrovaginal fistula (CUVF) with imperforate hymen have been reported. A remnant of communication between the uterovaginal primordium and urogenital sinus may be responsible for CUVF. [ABSTRACT FROM AUTHOR]

We present the case of a late preterm infant with prenatal concerns for a cloacal anomaly with dilation of bowel and a small bladder. After birth the infant was found to have a presumed uterus didelphys, patent urachus, imperforate anus and total colonic agenesis. This constellation of clinical findings is not described in the literature and no syndrome fits this description. A chromosomal microarray showed a female with normal copy number. It remains unknown if these findings are associated with a syndrome not previously known or occurred as spontaneous changes. • This article presents unique congenital anomalies within one patient, who had an incorrect prenatal diagnosis. [ABSTRACT FROM AUTHOR]

Hirschsprung disease and anorectal malformations are two conditions that are rarely associated with one another. Current reports of anorectal malformations with concurrent Hirschsprung disease predominantly describe children with genetic syndromes or other chromosomal anomalies. This report describes a case of imperforate anus and Hirschsprung disease in an otherwise healthy patient highlighting the importance of considering Hirschsprung disease in any patient with stooling difficulties following anorectoplasty for anorectal malformation. [ABSTRACT FROM AUTHOR]

Abstract: We report a unique coincidence of malignant tumor projected via anus in an infant girl operated on for congenital anal atresia without fistula. The case seems to be different from Currarino syndrome. After five month of uneventful follow-up after posterior sagittal anorectoplasty (PSARP), a rapidly enlarging polyp-like bulge protruded from the anus. Blood tumor markers were negative. X-ray computed tomography (CT scan) revealed a tumor located subcutaneously between the coccygeal bone and rectum. The intraoperative biopsy showed malignancy. By perineal approach, the tumor was radically resected en-bloc with anus, part of neorectum, and distal fragment of coccygeal bone. Mature descending colostomy was performed. The postoperative course was uneventful. The final histological diagnosis revealed embryonic malignant teratoma. The bone scintigraphy was negative. Additional chemotherapy was applied without complication. After one year follow-up free of tumor recurrence or metastasis, the perineal anus reconstruction was performed by combined abdominal and posterior sagittal approach. Anal dilatation program was started on 10th postoperative day when the stoma was closed. Five months after the last surgery, the girl presents bowel control and defecates regularly 2–3 times a day without complaints, constipation or cicatricial anal stenosis. Oncologic surveillance is negative. [Copyright &y& Elsevier]

Covered cloacal extrophy (CCE) is extremely rare condition. It requires a high index of suspicion for its diagnosis. External features are quite similar to that of common cloaca i.e. intact lower abdominal wall and single perineal opening whereas visceral features are similar to cloacal extrophy (CE). 3 day old female neonate presented to the emergency department with single perineal opening and stool coming out of umbilicus as well as perineal opening. Abdominal wall was intact. After detailed workup, she underwent exploratory laparotomy and was diagnosed as covered cloacal extrophy. Wide spectrum of cloacal malformation makes covered cloacal extrophy a diagnostic challenge and early diagnosis is helpful in strategizing future reconstructions. [ABSTRACT FROM AUTHOR]

A case report of High type imperforate anus with recto-urethral fistula was found to be associated during colostomy with left micro-colon. The mother of the child was insulin dependent diabetic. Such babies are more prone to VACTERL anomalies. Small left colon syndrome has never been reported to coincide with imperforate anus, though the two can occur in babies born of diabetic mothers as a separate entity. [ABSTRACT FROM AUTHOR]