• Journal of Yeungnam Medical Science
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• v.38 no.3
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• pp.240-244
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• 2021

Imperforate anus is an anomaly caused by a defect in the development of the hindgut during early pregnancy. It is a relatively common congenital malformation and is more common in males. Although there are cases of a solitary imperforate anus, the condition is more commonly found as a part of a wider spectrum of other congenital anomalies. Although urgent reconstructive anorectal surgery is not necessary, immediate evaluation is important and urgent decompressive surgery may be required. Moreover, as there are often other anomalies that can affect management, prenatal diagnosis can help in optimizing perinatal care and prepare parents through prenatal counseling. In the past, imperforate anus was diagnosed by prenatal ultrasonography based on indirect signs such as bowel dilatation or intraluminal calcified meconium. Currently, it is diagnosed by directly checking the perineum with prenatal ultrasonography. Despite advances in ultrasound technology, accurate prenatal diagnosis is impossible in most cases and imperforate anus is detected after birth. Here, we present two cases of imperforate anus in female fetuses that were not diagnosed prenatally.

• Advances in pediatric surgery
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• v.2 no.1
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• pp.59-63
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• 1996

Colonic atresia is the least common form of intestinal atresia. Colonic atresia, like jejunoileal atresia, mostly occurs as a result of an intrauterine vascular accident. According to Sutton's classification, type 1 colonic atresia exibits external continuity with an intraluminal diaphragm(colonic web) which may be imperforate or perforate. Authors experienced a case of colonic web associated with imperforate anus. The patient was treated under the impression of the high type imperforate anus. Posterior sagittal anorectoplasty at the age of 9 months revealed normal anorectal canal. At the age of 12 months, colostomy was repaired. Thereafter abdominal distension was developed. Barium enema noted a membranous obstruction of the colon on the level of the rectosigmoid junction. After exicision of the colonic web, the patient was discharged with no problem.

• Archives of Plastic Surgery
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• v.47 no.3
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• pp.272-276
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• 2020

Anorectal malformation or imperforate anus is a congenital anomaly of rectum and anus. Mullerian duct anomalies are abnormal development of uterus, cervix, and vagina. Imperforate anus with double uterus is extremely rare and cannot explain by normal embryologic development. Moreover, guideline in treatment is inconclusive. We report an extremely rare case of a young adult female who presented with recurrent pelvic inflammatory disease caused by rectovaginal fistula in congenital imperforate anus and didelphys uterus, and successfully neoanal reconstruction with gracilis muscle flap. Aims for treatment are closed rectovaginal fistula, and anal sphincter reconstruction. To our best knowledge, the imperforate anus with double uterus is extremely rare anomaly. Furthermore, successfully anal sphincter reconstruction with functional gracilis muscle in the imperforate anus with double uterus has never been reported in English literature.

• Advances in pediatric surgery
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• v.1 no.2
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• pp.190-194
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• 1995

Diphallus is a rare congenital anomaly and is frequently associated with duplication of the urinary tract and rectosigmoid, and commonly associated with vertebral anomalies. Remzi reported less than 100 cases of duplication of all or a portion of the penis, but about 10 cases of complete diphallus with exstrophy of cloaca was reported, and a case of complete diphallus associated with hindgut duplication was reported, and complete diphallus with displacement of bladder associated hindgut duplication and imperforate anus was not reported in Korea. We experienced a case of the complete diphallus associated with displacement of bladder, hindgut duplication, and imperforate anus as a variant of cloacal exstrophy. A review of published cases suggests that this may be the first example of a complete diphallus with displacement of bladder coexisting with the hindgut duplication and imperforate anus.

• Clinical and Experimental Reproductive Medicine
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• v.49 no.3
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• pp.215-218
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• 2022

Herein, we report an exceptionally rare case of a 25-year-old woman with cloacal exstrophy/omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) syndrome achieving a viable pregnancy despite many gastrointestinal and genitourinary malformations and multiple respective corrective operations. The patient was born with two vaginas, two uteruses, four ovaries, an imperforate anus, a large omphalocele including bowel and bladder exstrophy, and diaphysis of the pubic rami. This patient is the only documented OEIS patient not to have tethered spinal cord as an anomaly, perhaps contributing to her successful pregnancy. After experiencing preeclampsia with severe features at 35 weeks, the baby was born via cesarean section.

• Advances in pediatric surgery
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• v.4 no.2
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• pp.163-165
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• 1998

The association of congenital colonic atresia with imperforate anus is extremely rare. There are only three cases reported in the English literatures. The authors have recently managed one case in female infant.

• Childhood Kidney Diseases
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• v.10 no.2
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• pp.233-237
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• 2006

The clinical features of the Mayer-Rokitansky-K$\ddot{u}$ster-Hauser(MRKH) syndrome include normal female secondary sex characteristics, normal genitalia, congenital absence of vagina, rudimentary or bipartite uterus, normal ovarian function and normal ovulation, 46, XX, karyotype, frequent association of renal, skeletal and other congenital anomalies. We experienced a case of a premature infant with MRKH syndrome who had imperforate anus and unilateral renal agenesis.

• Neonatal Medicine
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• v.18 no.2
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• pp.404-408
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• 2011

Scimitar syndrome (SS) is a rare congenital anomaly characterized by hypoplasia of the right lung and partially anomalous pulmonary venous drainage to the inferior vena cava. The term scimitar derives from the shadow created by the anomalous pulmonary vein on chest X-ray that closely resembles that of a curved Turkish sword. It rarely presents as an isolated abnormality. Various cardiac and non-cardiac anomalies have been association with SS, such as right lung hypoplasia, dextroposition of the heart, hypoplasia of the right pulmonary artery, systemic arterial blood supply to the right lower lung from the infra-diaphragmatic aorta, and a secundum type of atrial septal defect. However, an imperforate anus has not been reported previously in association with SS. We describe the first case of infantile scimitar syndrome accompanied with an imperforate anus in a newborn who presented with tachypnea and right pulmonary atelectasis.

• Neonatal Medicine
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• v.25 no.3
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• pp.131-135
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• 2018

Hyponatremia is defined as a plasma sodium concentration of <135 mEq/L. It is a common electrolyte imbalance in newborns. We report the case of a term neonate with cleft lip, cleft palate, imperforate anus, normal male karyotype, and chronic hyponatremia. On the 4th day of life, he showed hyponatremia (plasma sodium concentration 130 mEq/L) with low serum osmolality (275 mOsm/kg), high urine sodium (116.7 mEq/L), and high urine osmolality (412 mOsm/kg). His thyroid and adrenal functions were normal. Despite intravenous and oral sodium supplementation and hydrocortisone treatment, hyponatremia persisted. Brain magnetic resonance imaging showed normal results. He was diagnosed as having reset osmostat, a rare subtype of the syndrome of inappropriate secretion of antidiuretic hormone characterized by a subnormal threshold for antidiuretic hormone secretion, with hypotonic hyponatremia.

• Advances in pediatric surgery
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• v.2 no.2
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• pp.102-109
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• 1996

Pediatric surgeons are familiar with the posterior sagittal approach to the rectum at sacrococcygeal area and well oriented with the anatomy because of the Penal procedure for imperforate anus. The author utilized the posterior vertical elliptical incisions in 12 cases of sacrococcygeal teratoma since 1987. For presacral tumor(type IV)$^2$, the incision was exactly same as the posterior sagittal procedure for imperforate anus. But the out-growing(type I) or dumbbell-shaped(type II & III) tumors, a vertical elliptical incision was required. For the laterally deviated tumors, a vertical and half-chevron incision was utilized in one case, but an unbalanced vertical elliptical incision was acceptable for the remaining two cases, with shrinkage of the overlying skin. In dumbbell-shaped tumors(type II & III), the narrow waist of the tumor was at the level of the levator muscle, which formed a muscle-belt on the tumor waist. A careful dissection to save the muscle-belt seemed to be the most important point during this procedure, utilizing the nerve-stimulator. After complete removal of the tumor and the coccyx, the levator muscles and the skin were closed in vertical fashion along the midline. For the caudally extending tumors in 3 cases, the muscle complex was divided in midline. Nothing by mouth and total parenteral nutrition was maintained for 1 week and then laxatives were given for 2 weeks in order to give the sphincters rest. Operative scars were acceptable resembling natural vertical midline folds, and the sphincter function was continent in all cases. In conclusion, vertical elliptical incision in sacrococcygeal teratoma is recommended because of the acceptable scar, functional restoration, and because it is a familiar procedure particularly for the pediatric surgeons who are accustomed performing posterior sagittal approach for imperforate anus.