Online Exclusives
Colon agenesis with ileovesical fistula and anorectal malformation
Colonic agenesis is a rare cause of congenital bowel obstruction and is usually associated with other malformations such as abdominal wall defects or gastrointestinal, cardiac, urogenital, and musculoskeletal lesions. Although many uncommon types have been reported, ileovesical fistula (IVF) associated with total colonic agenesis (TCA) has not been reported in a newborn with anorectal malformation (ARM). This is the first report of a 1-day-old newborn with ARM, IVF, and TCA.Right congenital diaphragmatic hernia associated with anorectal malformation
We describe a neonate in whom a right congenital diaphragmatic hernia and an anorectal malformation coexisted. Their coexistence in the same patient is rare.H-type rectovaginal fistula in a patient with bilateral single ectopic ureters
Congenital H-type rectovaginal fistulas and single ectopic bilateral ureters are each rare malformations. We describe a baby girl with a congenital rectovaginal fistula diagnosed 2 years after correction of single ectopic bilateral ureters. To our knowledge, this is the first association of these entities. Repair of fistula was complicated by recurrence, requiring a second procedure. The recommended operation for this anomaly requires separating the suture lines on the vagina and rectum. The practice of simply oversewing and then buttressing the suture lines is probably not sufficient.An accessory labioscrotal fold associated with anorectal malformation in female neonates
The association of perineal lipomas with anorectal malformations in the newborn has been reported previously (Shaul DB, Monforte HL, Pena A, et al. Surgical management of perineal masses in patients with anorectal malformations. J Pediatr Surg 2005;40:188-191; Wester T, Rintala RJ. Perineal lipomas associated with anorectal malformations. Pediatr Surg Int 2006;22:979-981). Only 2 cases of accessory labioscrotal fold with perineal lipoma have been reported (Redman JF, Ick KA, North PE. Perineal lipoma and an accessory labial fold in a female neonate.Anorectal malformation and Down's syndrome in monozygotic twins
Anorectal malformation (ARM) can be divided in high, intermediate, and low forms according to the level of termination of the rectum in relation to the pubococcygeal and ischiatic lines. Patients with Down's syndrome have a high incidence of gastrointestinal anomalies, such as tracheoesophageal fistula, duodenal obstruction, annular pancreas, Hirschsprung's disease, and ARM. In these children, ARM is generally low with or without a fistula. The mode of inheritance of ARM and its genetic relation with Down's syndrome is not known, even if the association (ARM-Down's syndrome) seems not to be coincidental.Congenital pouch colon with duplicate bladder exstrophy
Congenital pouch colon, an unusual high anorectal malformation, is rarely associated with exstrophy variants. We describe a case of congenital pouch colon associated with duplicate bladder exstrophy, never reported before in literature. The relevant literature is reviewed, and the possible embryogenesis of this complex anomaly is suggested.Bladder outlet obstruction causes fetal enterolithiasis in anorectal malformation with rectourinary fistula
Extraluminal calcified meconium is found frequently by prenatal ultrasound in cases with bowel perforation and meconium peritonitis. Intraluminal intestinal meconium calcifications are rarely seen in prenatal sonography. Meconium calcifications result from a mixture of meconium and urine that indicates a connection between intestinal and urinary tract. We report a case of a male newborn prenatally diagnosed with intraluminal echogenic calcifications at 23 weeks of gestation, suggesting an anorectal malformation (ARM) with rectourinary fistula.Congenital pouch colon syndrome in a Saudi Arabian neonate
Congenital pouch colon syndrome is partial or complete replacement of the colon by a pouch-like structure and anorectal malformation. Commonly reported from northern India, we believe this is the first report of congenital pouch colon syndrome in a Saudi Arabian neonate. He was referred with an imperforate anus and diagnosed as having a high anorectal malformation. The patient underwent a sigmoid colostomy. Continued abdominal distension after the colostomy prompted sonography and computed tomography, which showed an air- and fluid-containing cystic structure in the abdomen.Anorectal malformation with tubular hindgut duplication
The association of hindgut duplication and anorectal malformation is rare. Published classifications of this association are confusing in respect of terminology. We report a case of blind-ending, Y-shaped tubular duplication of the distal hindgut, associated with an anorectal malformation (rectourethral fistula) affecting the colon proper. Surgical options at time of presentation and of reconstructive surgery are discussed. A review and suggested modification of the classifications is presented.The congenital pouch colon can be used for vaginal reconstruction by longitudinal splitting
Congenital pouch colon (CPC) is a rare malformation in which the distal part of a shortened colon forms a dilated pouch. It is associated with an anorectal malformation. We report 2 patients with CPC, one with a cloaca and one with vestibular fistula and vaginal atresia. It is the first description of CPC, vestibular fistula, and vaginal atresia. The purpose of this report was to demonstrate that the pouch can be split longitudinally—in analogy with Bianchi's intestinal lengthening procedure [Bianchi A.Isolated imperforate anus in monozygotic twins: case report and implications
The authors report a case of isolated imperforate anus with perineal fistula in monozygotic twins. Only 4 other well-documented cases of monozygotic twins concordant for isolated anorectal malformation have been reported in the literature. In all these cases the defect occurred below the levator ani muscle. This case confirms previous reports on the incidence of low anorectal anomalies in monozygotic twins where the defect was isolated. A review of the literature relating to this condition in twins and siblings points toward low anomalies and more severe malformations having different genetic backgrounds.
