Case Of Imperforate Anus Research Articles

Anorectal Malformation with Colonic Duplication and Dual Rectovaginal Fistulae

Anorectal malformations associated with colonic duplications are rare. We report a case of imperforate anus, tubular colorectal duplication, and dual rectovaginal fistulae. This case illustrates the diagnostic challenge and variable presentation of colonic duplications and the use of laparoscopy in the surgical management. A review of the etiology, presentation, and surgical therapy is presented.

Displacement of Small bowel into the Lesser Sac in a Case of Complete Congenital Pouch Colon

Postoperative neonatal intestinal obstruction has a myriad of etiology. An operated case of imperforate anus developed intestinal obstruction early postoperatively. At re-operation, missed complete congenital pouch colon with a small perforation and displacement of small bowel into the lesser sac were found. The patient was managed by adhesionolysis, excision of pouch colon, and end ileostomy. The patient did well postoperatively.

Hypermethylation of SHH in the pathogenesis of congenital anorectal malformations

ObjectiveThis study sought to examine promoter methylation and expression of the identified sonic hedgehog (SHH) gene in terminal rectal tissues of children with congenital anorectal malformations (ARMs). MethodsTissue samples from the terminal rectum of pediatric patients with ARMs (five cases each of high and intermediate malformation — two cases of rectovesical fistula, two cases of rectourethral prostatic fistula, one case of cloaca with >3cm common channel, four cases of rectourethral bulbar fistula and one case of imperforate anus without fistula, respectively, and ten cases of low malformation — five cases of perineal fistula and five cases of vestibular fistula, respectively), and patients with non-gastrointestinal tract malformation (six cases, anal fistula) were collected and divided into three groups: high-intermediate ARM (ARMhi-int), low ARM (ARMlo), and control (Cont.). Real-time RT-PCR was used to detect mRNA expression levels of the verified differentially methylated gene SHH, and bisulfite genomic sequencing was performed to evaluate DNA methylation in the SHH promoter region. ResultsThe average methylation levels of the SHH promoter were significantly higher in ARMhi-int (0.850±0.030, P=0.0036) and ARMlo (0.540±0.053, P=0.0087) groups than in Cont. group (0.280±0.032). SHH mRNA expression levels were lower in ARMhi-int (0.340±0.015, P=0.0065) and ARMlo (0.530±0.042, P=0.0156) groups than in Cont. group (0.870±0.046). The average methylation levels of the SHH promoter were higher in ARMhi-int group than in ARMlo group (0.850±0.030 vs. 0.540±0.053, P=0.0095), while SHH expression was significantly reduced in ARMhi-int group compared to ARMlo group (0.340±0.15 vs. 0.530±0.042, P=0.0252). The methylation levels of the SHH promoter in ARMhi-int group were negatively correlated with SHH gene expression (r=−0.89, P<0.01). ConclusionsThe SHH gene, which plays a major role in the development of the anorectum and enteric nervous system, is hypermethylated at its promoter, and this is correlated with low levels of SHH gene expression. This epigenetic modification may therefore be responsible for the observed changes in SHH expression, which could in turn underlie the pathogenesis of congenital ARMs.

Sacral agenesis with imperforate anus and its late complication: Neuropathic bladder

The authors report a rare case of imperforate anus as a congenital anomaly. Early diagnosis and close follow up are emphasized, in order to prevent the development of complications which may last for a lifetime.

Congenital obstruction of the transverse colon.

The roentgen demonstration of a localized obstructive lesion in the transverse colon due to anomalous development of the mesentery is an unusual experience and worthy of record. Wm. E. Ladd was among the first to call attention to congenital obstruction of the intestines in the newborn. The great majority of congenital obstructive lesions reported in the literature have been in the duodenum, ileum and jejunum, with but rare instances in the large bowel. Miller (7) reported 14 cases of congenital obstruction, 6 in the jejunum and 8 in the duodenum, with none involving the colon. Ladd (5) stated that obstruction is not a rare condition in the duodenum, reporting 10 cases due to congenital bands and failure of rotation of the cecum, which is attached to the posterior abdominal wall across the duodenum. No case of large bowel obstruction is included in this series. Ladd and Gross (4) point out that urgent clinical manifestations of congenital obstruction of the intestinal tract are apparent in the early months of life, the majority developing in the newborn period. In a much smaller group, symptoms may not become apparent until late childhood or adult life, usually in the form of chronic, recurrent abdominal pain, vomiting, and nausea. Duckett (3) reported 6 cases of congenital intestinal obstruction, 5 of which were intrinsic obstructions in the duodenum and small bowel; in 1 case extrinsic obstruction occurred at the duodenojejunal junction. There was no case of large bowel obstruction in this series. Whitaker (2) called attention to the frequency with which congenital bands leading from the under surface of the liver to the colon are found in anatomical studies of cadavers without a history of symptoms of intestinal obstruction. Zaslow (1) reported 2 cases in new-born infants who died as a result of intestinal obstruction caused by congenital bands extending from the under surface of the liver to the hepatic flexure, producing pressure necrosis of the bowel and peritonitis. In a recent publication, Kneidel (8) reviewed the roentgen findings in 10 cases of congenital intestinal obstruction, 9 of which involved the intestine proximal to the ileocecal valve; one case of imperforate anus is included in this series. There were no instances of involvement of the intra-abdominal large bowel. Embryology Congenital obstructive lesions of the bowel are of two types. The intrinsic obstructions are probably due to an arrest in development during the transition through which the bowel changes from a solid cord to a hollow tube, the arrest taking place prior to the twelfth week of fetal life. The extrinsic obstructions are due to an arrest in the normal return of the mid-gut from the umbilical cord and in its normal rotation.

Case of Imperforate Anus

Case of Imperforate Anus

A CASE OF IMPERFORATE ANUS.

A CASE OF IMPERFORATE ANUS.

Notes on a case of imperforate anus, with exhibition of frozen section

Notes on a case of imperforate anus, with exhibition of frozen section

Notes on a case of imperforate anus, with exhibition of frozen section

Notes on a case of imperforate anus, with exhibition of frozen section

CASE OF IMPERFORATE ANUS.

CASE OF IMPERFORATE ANUS.

ON A CASE OF IMPERFORATE ANUS.

ON A CASE OF IMPERFORATE ANUS.

A Case of Imperforate Anus with Absence of Rectum

A Case of Imperforate Anus with Absence of Rectum

Case of Imperforate Anus, in which the Rectum Opened into, and Discharged its Contents through, the Urethra, in the Male

Case of Imperforate Anus, in which the Rectum Opened into, and Discharged its Contents through, the Urethra, in the Male

ON A CASE OF IMPERFORATE ANUS, WITH A PECULIAR DEFORMITY.

ON A CASE OF IMPERFORATE ANUS, WITH A PECULIAR DEFORMITY.

ON A CASE OF IMPERFORATE ANUS.

ON A CASE OF IMPERFORATE ANUS.

Case of Imperforate Anus, with Absence of the Rectum, in Which the Colon Opened Into the Superior Fundus of the Bladder

Case of Imperforate Anus, with Absence of the Rectum, in Which the Colon Opened Into the Superior Fundus of the Bladder

CASE OF IMPERFORATE ANUS.

CASE OF IMPERFORATE ANUS.

CASE OF IMPERFORATE ANUS.

CASE OF IMPERFORATE ANUS.