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PubMed2002

Terminal myelocystocele.

Terminal myelocystocele is an unusual form of occult spinal dysraphism. It consists of a cystic dilatation of a low-lying terminal cord herniated posteriorly through a skin covered lumbosacral spina bifida. This condition is often associated with OEIS complex i.e. opmphalocele, exstrophy of the bladder, imperforate anus and spinal abnormality. We studied 4 cases of terminal myelocystocele. They revealed no preoperative neurological deficit. None of these had associated OEIS complex. One of the cyst was unique due to presence of copious amount of pus in its cavity. All four cases underwent successful repair and surgery remained uneventful in all of them. No child showed neurological deterioration during the follow-up.

Female↗

PubMed2003

[Sphincter replacement grafts].

An anal sphincter replacement graft can be carried out when sphincter lesions occur after unsuccessful conservative or other treatment. Today, two different techniques are used to take over the function of the sphincter. The dynamic gracilis graft can be carried out if a non-atrophied,well innervated m. gracilis is present. This technique is carried out on patients whose incontinence is the result of a trauma,pudendopathy or imperforate anus. It can be extended to the construction of a neo-anus after abdominal resection. The artificial anal sphincter is used whenever the previous method fails or can not be used due to a non-vital, denervated or the lack of the m. gracilis. Older methods such as non-stimulated gracilis, glureus or Thiersch grafts are not commonly used.

Anal Canal↗

PubMed1997

Isolated H-type recto-vaginal fistula associated with a vulval abscess.

Recto-vaginal fistula is well known to occur in association with imperforate anus. We describe the case of an isolated "H-type" recto-vaginal fistula with no other anorectal abnormalities. The patient presented at 2 months of age with a vulval abscess and passing faeces per vaginum. Unilateral renal agenesis was also seen in this patient. We are unaware of any previous reports in the English-language literature of this isolated abnormality.

Abscess↗

PubMed2004

An audit of neonatal colostomy for high anorectal malformation: the developing world perspective.

A high divided sigmoid colostomy has been recommended for staged management of high anorectal malformation. We audited our cases of neonatal colostomy for high anorectal malformation to assess its effectiveness. A retrospective study was carried out of all surgical newborns admitted with high imperforate anus as the single diagnosis at our centre between December 1998 and December 2000. Morbidity and mortality were analysed after retrospective stratification into two groups (group A: birth weight >2.5 kg; group B: birth weight <2.5 kg). The chi square test was used to test the statistical significance in terms of outcome in the two groups. Overall mortality was 16%. Group A consisted of 34 babies: 30 with divided sigmoid colostomy and four with transverse loop colostomy. One baby with a divided sigmoid colostomy died from wound complications and septicaemia (mortality 2.9%). All four babies with transverse loop colostomy done under local anaesthesia survived, despite being sick on arrival. Group B consisted of 16 babies: 15 with sigmoid colostomy and one with transverse loop colostomy, with seven deaths (44%). None of the five babies with transverse loop colostomy done under local anaesthesia died, despite being sick on arrival, whereas all eight babies who died had undergone sigmoid colostomy under general anaesthesia. The difference in the outcomes of babies in groups A and B is highly significant ( p <.01). Sick, small (<2.5 kg) and septic babies arriving late to the unit do not appear to tolerate general anaesthesia and divided sigmoid colostomy well, despite that procedure's long-term advantages. Divided sigmoid colostomy has produced excellent results in babies >2.5 kg, but in the context of the developing world and limited critical care availability, transverse loop colostomy under local anaesthesia may save lives.

Colostomy↗

PubMed2005

Diphallus with ectopic bowel segment: a case report.

A 1-year-old boy presented with complete duplication of the penis, with an ectopic bowel segment as an associated anomaly. The boy had duplicated epispadiac urethras. The right one ended blindly whereas the left one was patent, leading into the bladder. There was separation of the symphysis pubis and bifid scrotum. Investigations revealed no other anomalies. A review of the literature concerning diphallus showed a preponderance of associated anomalies such as exstrophy, bladder duplication, ureteral or renal defects, and imperforate anus, but no cases with an ectopic bowel segment. We report this case because of its extreme rarity.

Choristoma↗

PubMed2006

Gastrointestinal malformations in Gorgan, North of Iran: epidemiology and associated malformations.

The aim of this prospective study was to evaluate the prevalence and pattern of gastrointestinal malformations (GIM) among Iranian newborns in Gorgan, North of Iran. From 1998 through 2003, 37,951 live births in Dezyani hospital in Gorgan, North of Iran, were screened for gastrointestinal malformations. Clinical and demographic factors of diagnosed cases were recorded in a pre-designed questionnaire for analysis; sex, ethnicity, type of GIM and associated anomalies. The overall prevalence rate of gastrointestinal malformations was 10 per 10,000 births. The imperforate anus (5 per 10,000) was the commonest birth defect in gastrointestinal tract. The prevalence rate of GIM was 8.2 per 10,000 in males and 10.7 per 10,000 in females. According to the parental ethnicity, the prevalence rates of GIM were 6.7, 15.8 and 17.6 per 10,000 in Fars, Turkman, and Sistani, respectively. There were eight cases (21%) with associated anomalies. The prevalence rate of GIM in North of Iran is not similar to the previous studies in Iran and Middle East and ethnic background may be a causative factor in the rate of GIM in this area.

Digestive System Abnormalities↗

PubMed1997

Electrostimulated gracilis neosphincter for faecal incontinence and in total anorectal reconstruction: still an experimental procedure?

The possibility of converting an easily fatiguable muscle like the gracilis muscle into a fatigue-resistant one using chronic electrostimulation has renewed interest in Pickrell's procedure. Between July 1991 and June 1996, 9 patients (2 M; 7 F) mean age = 45 y (range 14-72) underwent dynamic graciloplasty using Medtronic electrostimulators. Five patients had faecal incontinence (2 congenitally anomaly, 1 neurological, 2 post-operative) and 4 had a perineal colostomy performed either simultaneously (two cases) or at 3 to 4 years after abdominoperineal excision of the rectum. Early post-operative complications included distal tendon necrosis [1], perineal colostomy breakdown [1], detachment of the gracilis tendon [2] and seroma in the thigh [1]. Long-term complications included rectocele with faecal impaction in one patient with imperforate anus, anal stricture in one patient who had refashioning of a perineal colostomy, and displacement of the lead from the main nerve in 3 with external expulsion in 2. The patient with anal stricture was successfully treated with anoplasty but subsequently returned to an abdominal colostomy due to stricture recurrence 2 years later. The rectocele was successfully treated using a transvaginal approach. Electrical conversion of the muscle was completed in all patients but long term functional results are available for only 5 cases. Manometry revealed a significant improvement in anal pressure under electro-stimulation and the continence grading scale score significantly improved in 4 patients. The technique is applicable to a very selected group of patients with no other options but is still in the experimental phase and should not be performed outside controlled trials. Repeated hospitalisation and reoperations are often required although the complication rate may diminish and improve with experience.

Adolescent↗

PubMed2000

[Partial anomalous origin of the left pulmonary artery].

The pulmonary sling or aberrant left pulmonary artery has an incidence of 3% to 6% of all anomalies of the aortic arch system. We report a boy with coexistence of a normal and an anomalous left pulmonary artery. Associated congenital anomalies were coarctation, mitral stenosis, and imperforate anus. Cardiac catheterization and angiocardiography at the age of 5 months demonstrated an inconspicuous pulmonary trunk dividing into left and right branches. There was a normal right pulmonary artery, and a main left pulmonary artery supplying the left upper lobe, lingula, and anterior segments of the left lower lobe. In addition, an anomalous left lower lobe artery originated from the proximal right pulmonary artery, passed inferior to the tracheal bifurcation to the left supplying posterior segments of the left lower lobe. Chest X-rays and bronchoscopy could not detect any malformation of the trachea and pulmonary lobulation. There are only three reports of partial anomalous origin of the left pulmonary artery, and only one had a similar course of the accessory artery. This report is the first to present selective angiography and echocardiographic findings of the partial anomalous left pulmonary artery. The development of the partial anomalous pulmonary artery can be explained by the plexiform nature of the primary pulmonary vascular bed and can help to understand the embryology of the pulmonary arteries.

Abnormalities, Multiple↗

PubMed2005

Association of cloacal anomalies, caudal duplication, and twinning.

Cloacal anomalies exhibit a wide variety of morphologic types and accompanying clinical severity. The association of malformations of the cloaca with partial, complete, or conjoined twinning has been appreciated for some time, but, with the advent of prenatal ultrasound technology, appears to occur with a greater frequency than once thought. This observation has important implications for pathogenesis. We present 2 representative cases, a 19-week-old female fetus with duplication of several caudal structures and a 21-week-old male fetus with cloacal exstrophy variant and demised co-twin with lower abdominal wall defect, extruded intestinal tract, absent external genitalia, and imperforate anus. These findings and previously published theories suggest that certain models of monozygotic twinning may apply to the pathogenesis of cloacal anomalies. Specifically, the partial or complete duplication of the organizing center within a single embryonic disc may increase the risk of mesodermal insufficiency and thus account for the failure of complete development of the cloacal membrane and consequent exstrophy or other aberration.

Abnormalities, Multiple↗

PubMed2003

Augmented unilateral gluteoplasty with fascia lata graft in fecal incontinence.

BACKGROUND: This study was undertaken to evaluate the results of augmented unilateral gluteoplasty with fascia lata graft in patients with fecal incontinence due to congenital or neurologic disorders. METHODS: Between January 2000 and January 2001, we performed a prospective study of 11 patients with longstanding fecal incontinence (stage C3 according to Pescatori scoring system for fecal incontinence). The patients included one girl and 10 boys aged 5-19 years who had already undergone Swenson's operation for congenital megacolon (7 patients) or abdominoperineal pull-through for high imperforate anus (4 patients). Preoperative anorectal manometric studies (maximum resting pressure, maximum squeeze pressure, rectoanal inhibitory reflex and functional anal canal length), saline enema test and magnetic resonance imaging (MRI) studies were done. Unilateral gluteoplasty augmented with fascia lata graft was wrapped around the anal canal. Biofeedback retraining was started at the beginning of the fourth postoperative week. Patients were followed both objectively and subjectively for about 6-18 months. RESULTS: Eight of 11 patients (72.7%) were clinically improved, as shown by the change in incontinence score ( p=0.01). this was confirmed by the significant changes in manometric studies, functional anal canal length, rectoanal inhibitory reflex and saline enema test. MRI done one month postoperatively showed disruption in one patient. CONCLUSIONS: Unilateral gluteoplasty augmented with fascia lata graft leads to encouraging results in patients with end-stage anal incontinence due to irreversible damage to anal sphincter with less incidence of morbidity that could be related to tension on either the muscle flap or its neurovascular bundle.

Adolescent↗

PubMed1988

The Lenz microphthalmia syndrome.

We examined two patients with the Lenz microphthalmia syndrome. When findings from these two patients and those from ten other patients in the literature were combined, the following abnormalities were observed: microphthalmos in all patients; developmental retardation in 11 patients (92%); external ear abnormalities in ten patients (83%); microcephaly in ten patients (83%); blepharoptosis in nine patients (75%); skeletal anomalies (excluding digital anomalies) in eight patients (67%); dental abnormalities of number and position in eight patients (67%); digital anomalies in seven patients (58%); urogenital anomalies in six patients (50%); and cleft lip and palate abnormalities in four patients (33%). Cardiac anomalies, imperforate anus, hearing loss, spastic diplegia, sacral pits, webbed neck, and abnormal dermatoglyphs were rarely seen. One of our two patients had a dislocated lens and retinal detachment.

Abnormalities, Multiple↗

PubMed1983

Management of the newborn with gastrointestinal anomalies and tracheoesophageal fistula.

A standard approach to the otherwise healthy newborn with esophageal atresia and tracheoesophageal fistula has been well established. A significant number of these infants have additional gastrointestinal anomalies that necessitate alteration of the usual operative management. Over 2 1/2 years, nine such newborns have been managed. There were 17 additional gastrointestinal abnormalities, the most frequent being an imperforate anus (5), malrotation (5), and intestinal atresia (4). Management consisted of initial formal laparotomy, thoracotomy, and central line placement. In four infants these procedures were performed at a single sitting. Eight infants survived (89 percent); the single death resulted from intracerebral hemorrhage. Detection of coexisting gastrointestinal anomalies is mandatory in the management of the newborn with esophageal atresia. Standard local gastrostomy and subsequent thoracotomy may delay recognition of these associated anomalies, increase morbidity, and complicate subsequent correction. Preliminary abdominal exploration with correction, diversion, or both followed by thoracotomy, either immediate or staged, is indicated.

Abnormalities, Multiple↗

PubMed1992

Sirenomelia: case of the surviving mermaid.

This report describes a neonate with sirenomelia who was recently treated at British Columbia Children's Hospital. Prenatal diagnosis was made at 29 weeks' gestation. Survival was not anticipated. Cesarean-section at term showed a live 2,375-g infant with excellent Apgar scores. Anomalies noted were fused lower extremities, imperforate anus, colon atresia, bilateral fused pelvic kidneys with renal dysplasia, pelvic and sacral dysplasia, and genital abnormalities. Laparotomy and colostomy were performed. All other anomalies are compatible with life and she is neurologically normal. Eventual separation of the lower extremities is planned. This is the second reported case of survival in a patient born with sirenomelia.

Abnormalities, Multiple↗

PubMed1986

A case of diphallia.

We report a case of diphallia, associated with imperforate anus and pyloric stenosis. All of these systems can be involved when a single umbilical artery is found. Diphallia is a rare anomaly, occurring once in approximately 5,500,000 births. It has been reported less than seventy-five times.

Humans↗

PubMed1993

Surgical management of traumatic posterior urethral strictures in children.

We review our recent experience with the treatment of traumatic strictures of the posterior urethra in children. Five males, ages six to seventeen years with dense posterior urethral strictures, have required open reconstructive procedures. Four patients had injury secondary to pelvic fractures, and 1 patient had an iatrogenic injury from surgery for imperforate anus. Two patients were repaired perineally, 2 with a combination retropubic-perineal approach, and 1 patient required a transpubic approach. Excision and direct anastomosis was achieved in 3 patients, and a foreskin interposition tube graft was used in 2 patients. Excellent results were achieved with return of urethral voiding and preservation of continence in all patients. Complications were seen in 3 patients. One secondary internal urethrotomy was required. Erectile capability was preserved in all patients who were potent before surgery. Posterior urethral strictures in children can be successfully managed with a variety of surgical approaches. This experience demonstrates that the surgical procedure must be individualized depending on the anatomy of the injury.

Adolescent↗

PubMed1991

Strassman procedure for correction of a class II müllerian anomaly in an adolescent.

A logical approach to the diagnosis of pelvic pain in an adolescent with a suspected uterine anomaly is necessary for optimal care. A 16-year-old female born with an imperforate anus and a Class II müllerian anomaly is presented. A Strassman procedure resulted in unification of uterine horns, correction of pelvic pain, and potential fertility.

Abdominal Pain↗

PubMedDate not supplied

Down syndrome: clinical profile from India.

BACKGROUND: Our objective was to study demographic features, clinical features, and karyotype analyses of patients with Down syndrome (DS). Our study design was a retrospective analysis, while the study was conducted in the Genetic Clinic of a tertiary-care teaching hospital. METHODS: Retrospective analysis of cases referred to the Genetic Clinic was performed. Case proformas of the patients presenting with phenotypic features of DS were analyzed. The following information was recorded from the proformas: age at presentation; sex; maternal age; craniofacial and other physical features; presence and type of congenital heart disease; gastrointestinal abnormalities, and results of cytogenetic evaluation. Clinical features in neonates with DS were separately analyzed. RESULTS: Analysis included cases of DS presenting over a period of 7.5 years; a total of 524 patients were studied (303 males and 221 females; M:F ratio 1.37:1). Average age at presentation was 19.4 months (range: 1 day-26 years). Average maternal age at birth of the affected child was 26.8 years (range: 16-45 years). Craniofacial features noted in >50% of the cases included mongoloid slant (83.9%), ear abnormalities (66.9%), epicanthic folds (56.9%), and flat facial profile (50.9%). A total of 76.3% cases had hypotonia. Characteristic limb and dermatoglyphic anomalies were seen in less than one half of cases. These included sandle sign (46.2%), unilateral or bilateral simian crease (33.2%), clinodactyly (36.1%), and brachydactyly (11.1%). Ophthalmologic abnormalities included hypertelorism (33.9%), nystagmus (3.2%), Brushfield spots (3.2%), squint (2.7%), and cataracts (1.9%). Congenital heart disease was clinically diagnosed in 96 cases (18.3%). The nature of the cardiac defect was ascertained by color Doppler examination and/or 2D-echocardiography in 58 cases. The most common cardiac anomalies were ventricular septal defect (25.8%), tetralogy of Fallot (15.5%), and atrial septal defect (12.1%). Gastrointestinal anomalies were noted in seven cases and included three cases with imperforate anus, two with Hirschsprung disease, and one each with duodenal atresia and Morgagni hernia. Results of cytogenetic abnormalities were available in 42.2%. Free trisomy (non-dysjunction) was present in 95%, 3.2% had translocation, and 1.8% were mosaics. In neonates, common features noted were mongoloid slant, ear abnormalities, flat facial profile, hypotonia, sandle sign, and clinodactyly+/-brachydactyly. CONCLUSIONS: All characteristic craniofacial and physical features of DS need not be present in every case. Major features noted in the present study were mongoloid slant, ear abnormalities, epicanthic folds, flat facies, and hypotonia. Congenital heart disease was present in 18.3% of cases, with ventricular septal defect being the most common type of defect. Non-dysjunction was the most common cause of the chromosomal anomaly.

Adolescent↗

PubMed2006

Are cecal wrap and fixation necessary for antegrade colonic enema appendicostomy?

INTRODUCTION: In antegrade colonic enema (ACE) appendicostomy, cecal fixation on the inside of the abdominal wall and cecal wrap around the base of the appendix are often performed as an antireflux procedure. Whether cecal fixation and wrap and fixation (FW) are necessary is not known. In a retrospective study, we compared laparoscopic and open procedure with FW (LACEfw+ and OACEfw+) with laparoscopic procedure without FW (LACEfw-). MATERIALS AND METHODS: Between 1997 and 2004, 44 consecutive patients underwent an ACE appendicostomy for fecal incontinence. Eleven patients (1997-2000) had OACEfw+, 14 patients (2001 to 2003) had LACEfw+, and nineteen (2003-2004) had LACEfw-. The primary disorders included meningomyelocele (n = 17), imperforate anus (n = 12), sacral agenesis (n = 1), presacral teratoma (n = 1), osteosarcoma (n = 1), diastematomyelia (n = 1), tuberose sclerosis (n = 1), Hirschsprung's disease (n = 2), Down syndrome-associated refractory constipation (n = 1), Jacobsen syndrome (n = 1), and chronic constipation (n = 1). Twenty-eight patients had undergone previous abdominal surgery. Operative time, theatre time, length of hospitalization, and complications related with procedure and stoma were compared among the 3 groups. RESULTS: Age and age-adjusted body mass index did not differ statistically among the 3 groups. One LACEfw+ and 2 LACEfw- were converted. The median operative time was 38 minutes (range, 23-65 minutes) for OACEfw+, 78 minutes (50-135 minutes) for LACEfw+, and 40 minutes (25-120 minutes) for LACEfw- (P < .05). The median theatre time for OACEfw+ was 71 minutes (range, 50-107 minutes), for LACEfw+ 123 minutes (range, 70-173 minutes), and for LACEfw+ 75 minutes (57-160 minutes) (P < .05). The median length of hospitalization was 6 days (range, 3-8 days) for OACEfw+, 5 days (4-6 days) for LACEfw+, and 4 days (2-9 days) for LACEfw- (P < .05). Stomal revisions were required in 6 of 10 patients with open ACE, 7 of 14 patients with LACEfw+, and 2 of 19 patients with LACEfw-; stomal leak occurred in 3 of 11, 3 of 14, and 0 of 19 patients, respectively. Median follow-up time was 62 months (range, 36-94 months) for OACEfw+, 28 months (25-36 months) for LACEfw+, and 9 months (1-20 months) for LACEfw-. CONCLUSION: Operative time for LACEfw+ was twice as long as that of LACEfw- and OACEfw+. Hospital time was shortest in LACEfw-. Stomal complications occurred in all 3 procedures. After a medium time follow-up, it appears that FW is unnecessary for ACE appendicostomy.

Adolescent↗