• Journal of Yeungnam Medical Science
• /
• 제38권3호
• /
• pp.240-244
• /
• 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
• /
• 제2권1호
• /
• pp.59-63
• /
• 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
• /
• 제47권3호
• /
• pp.272-276
• /
• 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
• /
• 제1권2호
• /
• pp.190-194
• /
• 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
• /
• 제49권3호
• /
• pp.215-218
• /
• 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
• /
• 제4권2호
• /
• pp.163-165
• /
• 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
• /
• 제10권2호
• /
• pp.233-237
• /
• 2006

MRKH 증후군은 비뇨생식기계 및 골격계에 기형을 동반하지만 쇄항에 대한 동반 기형유무 검사상에서 MRKH 증후군으로 진단된 경우는 거의 보고되고 있지 않다. 이에 저자들은 쇄항을 주소로 내원한 34주 미숙아에서 MRKH 증후군으로 진단된 본 증례를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• Neonatal Medicine
• /
• 제18권2호
• /
• pp.404-408
• /
• 2011

Scimitar증후군은 우측 폐정맥이 하대정맥을 통하여 좌심방이 아닌 우심방으로 연결되는 부분 폐 정맥 환류이상을 보이면서 우측 폐의 발육부전, 우폐동맥의 발육부전 및 폐 분리증 등과 같은 동반 기형을 보이는 매우 드문 심폐기형 가운데 하나이다. 또한 선천성 항문 막힘증은 출생 후 조기에 잘록 창자 창냄술과 같은 적극적인 수술적 치료가 요구되는 항문 직장 기형의 하나로 비뇨기계 이상, 척추 이상, 기관지 식도루, 식도 폐쇄증 혹은 심혈관계 이상 등이 동반될 수 있다. 그러나, 부분 폐 정맥 환류 이상의 하나인 scimitar증후군이 항문 막힘증과 함께 동반됨을 보고한 예는 아직까지 국내외적으로 없었다. 이에 저자들은 호흡 곤란 및 선천성 편측 폐 발육부전 및 항문 막힘증을 주소로 입원한 신생아에서 진단된 scimitar 증후군 1례를 경험하였기에 보고하는 바이다.

• Neonatal Medicine
• /
• 제25권3호
• /
• pp.131-135
• /
• 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
• /
• 제2권2호
• /
• pp.102-109
• /
• 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.