1/241. An unusual case of the complete Currarino triad: case report, discussion of the literature and the embryogenic implications.OBJECTIVE AND IMPORTANCE: We present and illustrate an unusual case of the complete familial Currarino triad (an association between a bony sacral defect, a presacral mass, and an anorectal malformation) in which the teratoma arose from the conus medullaris and contained mature neurons, glia, and branching ependymal canals that were in communication with a terminal syrinx. The embryogenic implications are discussed. CLINICAL PRESENTATION: The patient was a term neonate when discovered to have imperforate anus. Further workup revealed lumbosacral dysraphism with a presacral mass, a rectovaginal fistula, and a single pelvic kidney. The family pedigree revealed a familial transmission pattern; the patient had a second cousin with anal atresia and a first cousin with similar sacral anomalies. The motor level was L4 with trace L5, and there was absent sensation in the sacral dermatomes. INTERVENTION: A diverting colostomy was performed on Day 14, and the infant returned at 3 months of age to undergo near-total resection through the previous abdominal approach. Only a subtotal resection was possible because the mass arose from the low-lying conus and was firmly adherent to the sacral nerve roots and iliac vessel. Follow-up magnetic resonance imaging performed 18 months after surgery revealed that the residual tumor had not progressed. CONCLUSION: Complete Currarino triad is rare and is familial in half of the cases. The special features of the tumor in our case were the presence of mature neurons with ependymal canals and its origin from the conus. The possible embryogenesis may provide evidence that the caudal notochord is important for organized secondary neurulation.- - - - - - - - - - ranking = 1keywords = anal atresia, anus, atresia (Clic here for more details about this article) |
2/241. OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects) in monozygotic twins.The omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a consistent and recognizable pattern of midline abdominal and pelvic defects. It is rare, affecting 1 in 200,000 to 400,000 pregnancies and is even rarer in twin gestations. This is an autopsy study of OEIS complex in monozygotic twins after pregnancy termination at 20 weeks of gestation. Unremarkable family history but concordance of monozygotic twins for the defects may support the theory that early malformation complexes, e.g., OEIS, and monozygotic twinning are manifestations of the same disturbance of early blastogenesis.- - - - - - - - - - ranking = 1.9715482878913keywords = anus (Clic here for more details about this article) |
3/241. An uncommon association relating to cloacal maldevelopment: bladder agenesis, anorectal atresia, and absence of vulva, vagina, and uterus.The authors report on a newborn girl with complex urogenital and hindgut abnormalities. Urogenital anomalies consisted of absence of vulva and vagina, uterine and urethral atresias, bladder agenesis with ectopic ureteric opening, and bilateral pelvic ectopic kidneys. In addition, the baby had anorectal atresia without fistula as a hindgut anomaly. Herein, clinical evaluation and embryological review are made to explain the concomitant occurrence of these rare malformations.- - - - - - - - - - ranking = 0.038691086370795keywords = atresia (Clic here for more details about this article) |
4/241. High-pouch imperforate anus treated by electromagnetic bougienage and subsequent perineal repair.Four male infants with imperforate anus were treated by electromagnetic bougienage and subsequent perineal anoplasty with division of rectourethral fistula. Each had high-pouch imperforate anus of the supralevator type, with rectourethral fishtula at or above the level of the membranous urethra. Perineal anoplasty was accomplished in all four, with division of the rectourethral fistula, avoiding the need to do a sacral-abdominal-perineal procedure, as had been customary previously in similar cases.- - - - - - - - - - ranking = 2.3658579454696keywords = anus (Clic here for more details about this article) |
5/241. Feminizing genital reconstruction, sigmoid vaginal replacement and anorectoplasty as a one-stage procedure for anorectal atresia associated with ambiguous genitalia.Anorectal atresia associated with male pseudohermaphroditism presents both diagnostic and surgical challenges. In the past, multiple operations were necessary for feminizing genitoplasty in gender-reassigned children with ambiguous genitalia. We combined the repair of an imperforate anus with a feminizing genitoplasty, including sigmoid vaginal replacement using the posterior sagittal approach in a 3-months-old infant. We conclude that a primary complete reconstruction is advantageous and should be performed in this condition.- - - - - - - - - - ranking = 0.42655222955393keywords = anus, atresia (Clic here for more details about this article) |
6/241. Pyloric atresia associated with epidermolysis bullosa, malrotation, and high anorectal malformation with recto-urethral fistula: a report of successful management.Pyloric atresia (PA) is an uncommon anomaly that may be associated with many other congenital anomalies, the commonest of which is junctional epidermolysis bullosa (JEB). Most of the cases of PA associated with JEB (Herlitz syndrome) reported have been fatal. A case of PA associated with JEB, malrotation, and a high anorectal malformation with a rectourethral fistula, which was hitherto undescribed, was successfully managed at our institution.- - - - - - - - - - ranking = 0.032242571975662keywords = atresia (Clic here for more details about this article) |
7/241. Perineal hemangioma, anorectal malformation, and genital anomaly: a new association?Two patients presented as full-term baby girls with anorectal and genital malformations with extensive perineal hemangiomas. The first patient had a vestibular anus with a perineal hemangioma involving the bladder, rectal, and vaginal walls. skin ulcerations required a transverse loop colostomy for wound care. The vulva, urethral opening, and clitoris were deviated to the left, labia minora were absent, and the labia majora were abnormal. The second patient had an anus displaced anteriorly and deviated to the right. The external anal sphincter was hypertrophic on the left and atrophic on the right. Rectal examination showed agenesis of the right levator ani and a dentate line located at the skin level. She had a large perineal, sacral, vaginal, pararectal and retroperitoneal hemangioma and developed extensive skin ulcerations. She had only a hemiclitoris located to the left of the midline, near absence of labia minora, and hypertrophied labia majora. The urethra was displaced to the left and opened in the vestibule. Both patients had a spinal malformation (one with tethered cord and one with spina bifida) and a normal karyotype. steroids and interferon allowed near-complete resolution of hemangiomas in both patients. The authors were impressed by the similarity of these two cases and could not find any previous description of this association.- - - - - - - - - - ranking = 0.78861931515653keywords = anus (Clic here for more details about this article) |
8/241. Unilateral tibial aplasia, pre-axial polysyndactyly, vertebral anomalies and imperforate anus.Tibial hemimelia is a rare malformation that can be isolated or found with other skeletal abnormalities. We describe a fetus with unilateral tibial aplasia, ipsilateral pre-axial polysyndactyly and femoral hypoplasia, ventriculomegaly, anal atresia and rib and vertebral anomalies. We believe that this combination of malformations has not previously been described.- - - - - - - - - - ranking = 2.1829289727348keywords = anal atresia, anus, atresia (Clic here for more details about this article) |
9/241. Imperforate anus, Hirschsprung's disease, and trisomy 21: a rare combination.Three well known pediatric problems, Hirschsprung's disease, anorectal anomaly, and trisomy 21, are presented in the same patient. The authors describe the problems encountered in making the final diagnosis and suggest management options when faced with this unusual situation.- - - - - - - - - - ranking = 1.5772386303131keywords = anus (Clic here for more details about this article) |
10/241. Imperforate anus: an unusual presentation of a common disease.Imperforate anus is a common problem facing the pediatric surgeon. Most cases of imperforate anus are discovered at birth during the initial physical examination and are corrected early. The pediatric population also accounts for 80% of all cases of ingested foreign bodies. Most of these pass through spontaneously and the treatment is observation. In this article, we present the case of a seven-month-old child in whom failure to pass a swallowed coin led to the diagnosis of imperforate anus. This case illustrates an uncommon presentation of a common disorder and emphasizes the importance of vigilance and careful physical examination in the newborn.- - - - - - - - - - ranking = 2.7601676030478keywords = anus (Clic here for more details about this article) |
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