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PubMed1980

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations.

We report on six infants with a neonatally lethal malformation syndrome of hypothalamic hamartoblastoma, postaxial polydactyly, and imperforate anus. Some, but not all, patients had laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula, hypoadrenalism, microphallus, congenital heart defect, and intrauterine growth retardation. The infants also had hypopituitarism and hypoadrenalism. All were sporadic cases, parents were not consanguineous, chromosomes were apparently normal. Family histories were unremarkable. There was insecticide and/or herbicide exposure in several of the cases, but no exposures were common to all 6 mothers. Five of the patients were born within an 8-month period, but all in different geographic locations. It is postulated that this is a previously apparently unreported syndrome of presently unknown cause.

Anus, Imperforate↗
PubMed1987

Assessment of the percentages of maximum static pressure in the anal canal for postoperative continence in patients with imperforate anus.

The maximum static pressure in the anal canal was measured using an open-tip manometric method with a continuous infusion system. The values obtained from 49 postoperative patients with imperforate anus were expressed as a percentage of those values obtained from 108 aged-matched controls. The value was observed to be 50 per cent or more in those patients with translevator type, showing normal defecation, 30-50 per cent in those with supralevator type, showing normal defecation or constipation, and 30 per cent or less in those with supralevator type, showing incontinence, and 30 per cent or less in those who had undergone surgery on the anal area at another hospital and required re-operation at our department, showing normal continence or incontinence.

Adolescent↗
PubMed1989

Ectopic vas deferens, imperforate anus and hypospadias: a new triad.

An ectopic vas deferens is a rare congenital anomaly frequently associated with rectal abnormalities. We describe 2 patients with ectopic vas deferens associated with an imperforate anus and hypospadias. There are 19 previous reports of patients with ectopic vas deferens, 5 of which were bilateral. One of our patients, a child with bilateral ectopic vas deferens, had the highest reported insertion of an ectopic vas deferens. The embryology and management of this rare condition are reviewed.

Anus, Imperforate↗
PubMed1979

Imperforate anus: an analysis of mortalities during a 25-year period.

A careful analysis of 53 deaths in a series of 284 patients suggests the following points are important in reducing risk: 1. Imperforate anus is a complicated lesion which should only be done by experienced surgeons in a large-volume pediatric surgical center in order to avoid the wrong choice of procedure. 2. A careful colostomy technique is essential to avoid herniation, prolapse, evisceration or obstruction. 3. Hyperchloremic acidosis from a large rectourinary fistula into the distal blind pouch of a colostomized high type lesion must be watched for. 4. The mucocutaneous junction (natural or surgical) must be kept free from stenosis to avoid fecalomas or enterocolitis-sepsis sequelae. 5. Neonatal pullthrough should be avoided as they carry an increased risk, make handling of fistulas difficult, and may lead to the placement of the bowel outside of the continence muscles.

Abnormalities, Multiple↗
PubMed1995

Complex colon duplication mimicking an obstructed, non-functioning kidney in a newborn with imperforate anus and spinal dysraphism.

Gastrointestinal (GI) duplications contain tissue resembling several portions of the GI tract and are associated with vertebral and genitourinary (GU) abnormalities [1-4]. We report a newborn with low, imperforate anus and lumbosacral dysraphism, who presented with a large cystic mass in the left renal fossa and pelvis. The flank mass (felt initially to be a dysplastic kidney and ureter) proved to be a complex GI duplication with histologic evidence of gastric, small bowel, and colonic mucosa, as well as respiratory epithelium and pancreatic tissue.

Abnormalities, Multiple↗
PubMed1988

Adenocarcinoma arising at the perineal wound after pull-through procedure for imperforate anus.

An extremely rare case is presented here, of an adenocarcinoma at the site of a long-standing perineal wound, the presence of which was a result of a pull-through procedure for imperforate anus. Wide local excision of a huge mass, including the perineal skin and the distal rectosigmoid segment, was carried out en-bloc on a 35 year old male. This tumor may have been caused by the repeated trauma and frequent ulceration around the perineal wound as a result of poor hygiene due to a fecal incontinence.

Adenocarcinoma↗
PubMed1978

Surgical treatment of high imperforate anus with definition of the puborectalis sling by an anterior perineal approach.

An operative technique in which the sling of the puborectalis muscle is seen through an anterior perineal approach in the treatment of high imperforate anus is described. The operation has been performed, on children with previous colostomies, and on older children with unsuccessful previous abdomino-perineal pull-through procedures. While our series of patients is still small, 24 children, operated upon sufficiently long ago for follow-up purposes, have generally shown good to excellent functional results.

Age Factors↗
PubMed1996

Vaginal repair of rectocele after dynamic graciloplasty for fecal incontinence due to imperforate anus.

A 35-years-old woman developed obstructed defecation due to a large (6 cm) non-emptying rectocele one year after successful electrostimulated gracilis neosphincter operation for correction of fecal incontinence after surgery for imperforate anus. Surgical correction of the rectocele was performed by a trans-vaginal approach due to the poor elasticity of the neoanus and avoidance of possible damage to the neosphincter. After physiological investigations, including defecography, the patient had a resection of the posterior vaginal mucosal wall, a double layer plication of the muscular wall with non-absorbable suture and a longitudinal mucosal suture. The postoperative course was uneventful. Defecography, performed 3 and 6 months later, showed a marked reduction of the rectocele (2 cm) which corresponded to clinical improvement. Occurrence of disabling rectocele can be considered a possible long term complication after successful electrostimulated neosphincter procedure in patients at risk for developing a rectocele; a successful repair can be obtained using trans-vaginal approach without the risk of neosphincter damage. Transvaginal repair of rectocele in similar clinical situations may be recommended.

Adult↗
PubMed2000

Posterior sagittal approach for repair of rectourethral fistula occurring after perineal surgery for imperforated anus at birth.

PURPOSE: Posterior sagittal approach was used for the repair of 11 cases of rectourethral fistula between 1992 and 1998. METHODS: All these patients had rectourethral fistula as a result of perineal procedure performed for imperforate anus at the time of birth. In addition to the fistula repair, an associated anorectal stenosis (3 cases) and urethral stricture 11 case) also were corrected with this approach. All the patients underwent surgery under cover of a protective colostomy. RESULTS: Successful repair was achieved in all patients, and the follow-up period ranged from 10 months to 7 years. As far as bladder and bowel control, urinary control was normal in all 11 patients, whereas bowel control was normal in 10 cases. One patient who had severe scarring of anal sphincters caused by infection in the previous surgery still suffers occasional perianal soiling after 18 months of follow-up. CONCLUSIONS: Posterior sagittal approach not only gives adequate exposure but also suits the basic principles of fistula repair, namely, completely separating the rectum from urethra and leaving normal rectal wall behind the urethral sutures thus eliminating the possibility of recurrence. In addition to fistula repair, one can also correct associated problems like anorectal stenosis or urethral stricture, and a mislocated rectum can be relocated within the sphincter complex.

Adult↗
PubMed2002

Aspermia and chronic testicular pain after imperforate anus correction. Cryopreservation of sperm cells extracted from whole orchiectomized testis: case report.

This paper describes an unusual association of aspermia and untreatable, chronic testicular pain in a young man who underwent 14 surgical interventions for an imperforate anus. Physical examination and ultrasonography revealed left epididymal and vas enlargement, normal-sized testes, tubular ectasia of the left rete testis and a small intraprostatic paramedian left cyst. Retrograde ejaculation and urogenital infections were excluded, and the FSH and karyotype results were normal. The patient gave his consent to an exploratory intervention with possible radical left orchiectomy. The patency of the left distal seminal duct was unexpectedly normal, and no sperm were found in the epididymis or vas deferens despite their obstructive appearance. Sperm were only found in a 'testicular touch' preparation. The removed testis was immediately opened and most of the testicular lobules were removed, thus allowing the extraction of 25 x 10(6) sperm, which were cryopreserved in 35 straws. An 8-month follow-up examination documented the complete absence of pain and, during the next few months, it is planned to use the thawed sperm for ICSI. Radical orchiectomy plus the cryopreservation of sperm extracted from the whole testis must be considered in the case of the co-existence of chronic unilateral testicular pain and aspermia.

Adult↗
PubMed2005

Long-term outcomes of individualized biofeedback training based on the underlying dysfunction for patients with imperforate anus.

BACKGROUND: The aim of this study was to design an individualized biofeedback program based on the underlying dysfunctions and to assess the short-term and long-term clinical and quality-of-life outcomes for patients with imperforate anus. METHODS: Thirty-one patients were treated using an individualized biofeedback program according to their different dysfunctions after having completed the assessment of the anorectal function. Many special biofeedback training methods that consist of strengthening the perianal muscles biofeedback, sensory discrimination biofeedback, synchronizing external sphincter contraction biofeedback, and improving defecation dynamic biofeedback were selected to make up the individualized biofeedback training program. The clinical scores and quality-of-life scores were assessed in the short-term and long-term follow-up. RESULTS: The clinical scores and quality-of-life scores of patients before training, after biofeedback training, at short-term follow-up, and at long-term follow-up were 3.2 +/- 1.1 and 8.7 +/- 1.1, 5.2 +/- 0.6 and 11.0 +/- 0.8, 5.1 +/- 0.6 and 10.8 +/- 0.9, and 4.6 +/- 0.7 and 10.1 +/- 0.7, respectively. After biofeedback training, the strength of the perianal muscles were increased significantly, the abnormal rectal threshold sensation and defecation dynamic reverted to normal in all patients, and 82% patients who have no external anal sphincter reflex acquired the new reflex. In the short-term follow-up, 12 (57%) patients maintained the clinical outcome, and only 9 (43%) patients have regressions slightly. At long-term follow-up, 7 (33%) patients maintained the clinical outcome very well, and 14 (67%) patients had regressed. Although the clinical and quality-of-life scores have decreased slightly at follow-up, they were still significantly increased compared with those before biofeedback training. CONCLUSIONS: The individualized biofeedback is more suitable for improvement of the clinical outcome and the quality of life, and maintained a good clinical outcome and quality of life on the short-term and long-term follow-ups.

Adolescent↗
PubMed1992

High and intermediate imperforate anus: results after surgical correction with special respect to internal sphincter function.

Embryologically a fistula in an anorectal malformation can be regarded as an ectopic anus. Since 1984 the so-called fistula has been saved and used as the new anal canal in the surgical reconstruction of 48 patients with high or intermediate imperforate anus. A positive rectoanal inhibitory reflex indicating internal sphincter function was recorded in 32 of 43 patients investigated with anorectal manometry. These patients showed significantly better anal continence. It is concluded that there is an internal sphincter "anlage" in the fistulous connection from the bowel to the urogenital tract. Internal sphincter function can be obtained in the majority of the patients, which seems advantageous for their anal function.

Adolescent↗
PubMed2006

Infrared spectrophotometry of intraluminal meconium calculi in a neonate with imperforate anus and rectourethral fistula.

BACKGROUND/PURPOSE: Intraluminal meconium calculi are a rare cause of neonatal abdominal calcifications in patients with anorectal malformations. To investigate their pathogenesis, we performed infrared spectroscopic analysis of meconium-calcified lesions. METHODS: Meconium calculi were collected from the colostomy in a newborn patient with imperforate anus and rectourethral fistula. The potassium bromide method was employed to obtain the infrared absorption spectrum of the meconium calculi. RESULTS: The wavelength pattern of the meconium calculi exhibited 4 specific peaks at 1570, 1390, 1105, and 1005 cm(-1) between 22% and 45% transmittance values. The unique absorption spectrum exclusively indicated ammonium hydrogen urate (C(5)N(5)O(3)H(7)), having the combined constituents of ammonium and uric acid. CONCLUSIONS: These results suggest that the intraluminal meconium calculi were originally derived from meconium and fetal urine. The stasis of meconium passage and fetal urine mixing through the rectourethral fistula in a low-pH condition was deduced to be the main cause of this rare stone formation.

Anus, Imperforate↗
PubMed2000

Posterior sagittal anorectoplasty for failed imperforate anus surgery: lessons learned from secondary repairs.

PURPOSE: The aim of this study was to evaluate secondary operations using a posterior sagittal approach in patients with fecal incontinence and impaction after primary repair of anorectal malformations. METHODS: Twenty patients (14 boys, 6 girls) who had previous failed surgery for imperforate anus underwent secondary operations. The indications for surgery included fecal incontinence (n = 16) and fecal impaction (n = 4). Patients ranged in age from 2 to 30 years (mean, 11 years), with 4 over the age of 20 years. The primary procedures included abdominosacroperineal (n = 7), sacroperineal (n = 10), and perineal (n = 3) pull-throughs. At surgery, none of the patients underwent a diverting colostomy. The rectum was mobilized from the surrounding structures through a posterior sagittal approach. The surgical findings included anteriorly displaced anus (n = 17), laterally displaced anus (n = 3), mesenteric fat surrounding the rectum (n = 4), mega-rectosigmoid (n = 2), and others (n = 3). The rectum underwent reconstruction, which involved relocation of the rectum and anus to surround them with the muscle complex. RESULTS: Patients underwent follow-up for periods ranging from 8 months to 6 years after surgery (mean, 3 years). To evaluate the functional results, fecal continence scores (Templeton and Ditesheim) were calculated for incontinent patients. Of the 16 incontinent patients, 12 achieved continence and 4 some improvement. Of the 4 patients with fecal impaction, 2 achieved daily voluntary bowel movement, whereas the other 2 have mild constipation and need occasional enemas. CONCLUSIONS: Our study suggests that (1) a secondary operation through a posterior sagittal approach can restore fecal continence and is efficacious even in adolescents and adults and (2) a posterior sagittal procedure can be safely performed without a diverting colostomy.

Adolescent↗
PubMed2003

Imperforate anus with rectopenile fistula.

We report a 9-month-old child with anorectal anomaly which was surgically treated in the neonatal period for a colostomy and was referred to us for a definitive procedure. The child had features suggestive of low anorectal abnormality; however, investigations indicated that he had a supralevator type of imperforate anus associated with a rectopenile subcutaneous fistula. The surgical treatment of this infant is discussed.

Anus, Imperforate↗