1/94. 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 = fistula (Clic here for more details about this article) |
2/94. 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 = 1keywords = fistula (Clic here for more details about this article) |
3/94. 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 = 2keywords = fistula (Clic here for more details about this article) |
4/94. 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 = 5keywords = fistula (Clic here for more details about this article) |
5/94. Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene.A 14-year-old African-American boy had chronic renal failure and Townes-Brocks syndrome (TBS). There were no affected family members. Features were imperforate anus, rectoperineal fistula, triphalangeal thumb, bifid thumb, rocker bottom feet, bilateral ear tags, satyr ear, sensorineural hearing loss, hypospadias, bilateral renal hypoplasia, and progressive chronic renal failure. Renal and urological anomalies in TBS include renal hypoplasia, renal dysplasia, unilateral renal agenesis, horseshoe kidney, posterior urethral valves, uretero-vesical reflux, and meatal stenosis. TBS is caused by a dominantly inherited defect in the gene encoding the SALL1 putative transcription factor, a protein possibly required for urological, renal, limb, ear, brain, and liver development. This patient had a novel mutation in this gene. The extent of renal involvement in patients with TBS should be evaluated for optimum treatment and prediction of prognosis.- - - - - - - - - - ranking = 1keywords = fistula (Clic here for more details about this article) |
6/94. A case of Currarino triad with familial sacral bony deformities.We describe a male patient presenting with Currarino triad: a recto-urethral fistula, sacral bony deformity, and a presacral teratoma. Clinical screening of his family revealed three additional cases with incomplete forms of this association. Cytogenetic findings in the patient and his mother were normal. This case suggests that the occurrence of an anorectal malformation together with a sacral bony deformity should raise a physician's index of suspicion for associated presacral tumors, and that screening of the patient's family members with sacral radiographs is necessary.- - - - - - - - - - ranking = 1keywords = fistula (Clic here for more details about this article) |
7/94. Rectal duplication.Duplications of the alimentary tract are of a great rarity, particularly so in the rectum. Because of its rarity, the difficulty of making a correct diagnosis and of selection of proper approach for treatment, this entity bears a special significance. The present case report deals with a female newborn who presented with imperforate anus and a rectovestibular fistula and a mass prolapsing at the introitus. Complete excision of the mass was carried out through the perineal approach and the child then underwent, a PSARP for the correction of the rectal anomaly. histology confirmed the mass to be a rectal duplication.- - - - - - - - - - ranking = 1keywords = fistula (Clic here for more details about this article) |
8/94. The split notochord syndrome with dorsal enteric fistula, meningomyelocele and imperforate anus.A male infant was referred to our department because of lumbosacral meningomyelocele, dorsal enteric fistula and imperforate anus. The mother had received a parenteral drug containing estradiol benzoate and progesterone for inducing abortion in the first trimester. She also used an anal pomade containing triamcinolone and lidocaine-HCl during the pregnancy for hemorrhoids. Sigmoid end colostomy was performed after meningomyelocele repair. On abdominal exploration a wandering spleen was detected but no other anomalies. Two months later, an abdominoperineal pullthrough was performed, and the patient was discharged well after three weeks. Our case is the sixth that had split notochord syndrome associated with dorsal enteric fistula and imperforate anus. Additionally, penoscrotal transposition and wandering spleen were present in this case. To our knowledge, these associated anomalies have been extremely rare.- - - - - - - - - - ranking = 6keywords = fistula (Clic here for more details about this article) |
9/94. Imperforate anus in Feingold syndrome.A father and daughter had the characteristic findings of Feingold syndrome including microcephaly, short palpebral fissures, brachydactyly with clinodactyly of fifth fingers, and bilateral syndactyly of second to third and fourth to fifth toes. The infant presented with long-gap esophageal atresia without fistula (type A). Her father, who had short stature and learning disabilities, had congenital imperforate anus with a recto-vesical fistula. This is the first report of distal intestinal atresia in Feingold syndrome.- - - - - - - - - - ranking = 2keywords = fistula (Clic here for more details about this article) |
10/94. Laparoscopic muscle electrostimulation during laparoscopy-assisted anorectal pull-through for high imperforate anus.PURPOSE: Our technique for laparoscopic muscle electrostimulation during laparoscopy-assisted anorectal pull-through (LAARPT) for high imperforate anus (HIA) in 3 patients is described. methods: The distal rectum and rectourethral fistula is dissected laparoscopically. A muscle stimulator is passed through one of the trocars and used to identify the center of contraction of the levator ani. The same muscle stimulator is used to identify the center of the external sphincter muscle transcutaneously. An intravenous cannulation device (SURFLO Flash IV catheter, TERUMO, CO, Yamanashi, japan) is inserted through this proposed anus and observed piercing the center of the levator ani. A guide wire is passed through the SURFLO, and a series of dilators are passed along it to create a canal for the colonic pull-through. An anoplasty then was performed. RESULTS: Our technique was successful in all patients. Laparoscopic electrostimulation produced good levator ani contraction in patients I and II and weak contraction in patient III. patients I and II have symmetrical anal contraction during rectal examination, but patient III has poor contraction. Stool frequency is decreasing in all. CONCLUSION: Direct laparoscopic observation of levator ani contraction allows intraoperative assessment of functional contractility and assists in the accurate placement of the colonic pull-through.- - - - - - - - - - ranking = 1keywords = fistula (Clic here for more details about this article) |
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