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PubMed1997

Combined Mitrofanoff and antegrade continence enema procedures for urinary and fecal incontinence.

PURPOSE: Fecal soiling or intractable constipation frequently occurs in association with urinary incontinence in children undergoing major reconstructive urological operations. To treat double incontinence or the combination of wetting and severe constipation, we constructed a Mitrofanoff conduit and a channel for antegrade continence enemas in 18 patients between 1989 and 1995. We review the underlying pathological conditions, various surgical techniques and outcomes of these operations. MATERIALS AND METHODS: Underlying abnormalities mainly included spinal lesions, bladder exstrophy, imperforate anus and various cloacal anomalies. Patient age ranged from 2 to 18 years (average 8.4). In 13 patients both procedures were done simultaneously. The appendix was used to construct the antegrade continence enema channel in 8 cases and the Mitrofanoff channel in 5. It was long enough to be divided and used for both procedures in 2 cases but it was missing or unsuitable in 3. Alternative antegrade continence enema conduits were cecal flap in 7 patients and ileum in 1, while the ureter, ileum and detrusor tube were used to establish Mitrofanoff channels in 5, 5 and 1, respectively. Stomas were constructed according to the V-flap or V. Z. Q. technique and situated in close proximity in the right lower abdominal quadrant in 13 cases. RESULTS: Convalescence was uneventful except for 1 abscess near an antegrade continence enema stoma. Ten patients needed dilation or minor revisions due to difficulty in catheterizing the antegrade continence enema (5), Mitrofanoff (3) or both conduits (2). Subsequently 3 patients underwent repeat operations for reconstruction of 2 antegrade continence enema channels (cecal flap and ileum) and 1 detrusor tube Mitrofanoff channel. Currently 15 patients are dry on regular clean intermittent catheterization using 10 to 12F catheters. Outcomes of the antegrade continence enema channels are satisfactory in 15 patients who are clean or rarely soil. Failure occurred in 1 patients with severe constipation necessitating colostomy and 2 (1 noncompliant who stopped catheterizing regularly) in whom the channels subsequently closed. CONCLUSIONS: Synchronous construction of antegrade continence enema and Mitrofanoff channels is successful in the majority of doubly incontinent patients. Selection of patients with high motivation is important to obtain satisfactory results.

Adolescent↗

PubMed1997

Role of the antegrade continence enema in the management of the most debilitating childhood recto-urogenital anomalies.

PURPOSE: We evaluated the antegrade continence enema for managing the most severely compromised fecal continence mechanisms and the efficacy of nonappendiceal conduits in children when appendix is unavailable. MATERIALS AND METHODS: Ten patients 3 to 25 years old underwent continent cecostomy for the purpose of the antegrade continence enema. Diagnoses included the VATER association in 4 cases, myelomeningocele in 3, cloacal anomaly in 2 and isolated imperforate anus in 1. Eight patients received a tubularized ileal conduit, 2 received an appendiceal conduit and 2 underwent concomitant fecal undiversion. RESULTS: Followup ranged from 4 to 28 months (mean 17.6). All patients have achieved excellent fecal continence and no significant stomal soilage or difficulty with catheterization has been noted. Patients reported a high degree of satisfaction. CONCLUSIONS: Continent cecostomy for the antegrade continence enema is highly effective even in the presence of severe structural anorectal disease. The tapered ileal conduit is an excellent alternative to the appendiceal conduit.

Abnormalities, Multiple↗

PubMedDate not supplied

Hospital outbreak of hepatitis A: risk factors for spread.

A 34-month-old girl with Down's syndrome from the Marshall Islands was hospitalized in September, 1981, at Tripler Army Medical Center for evaluation of a heart murmur and definitive repair of an imperforate anus for which she had had a colostomy since birth. She became jaundiced and had serologic evidence of hepatitis A infection. Over the next month eight hospital personnel (four nurses, three nursing assistants and one physician) who had had direct contact with the patient became ill with hepatitis A. Our patient, like the index cases in five previous reports of nosocomial hepatitis A outbreaks, was incontinent of feces. In addition she was hospitalized during the incubation period before clinical illness when virus fecal excretion is likely to be maximal. Patients in the prodromal stage of hepatitis A infection who are hospitalized pose a significant risk to exposed hospital staff. This risk is enhanced if there are additional factors present which promote spread of disease by the fecal-oral route such as infancy, mental retardation, diarrhea and fecal incontinence.

Adult↗

PubMed1993

Anomalies associated with vertebral malformations.

A review of 218 patients with congenital vertebral anomalies demonstrates that 61% of patients had associated abnormalities affecting seven systems. The type of vertebral anomaly did not predict the location or type of associated abnormality. The site of vertebral anomaly did correlate with the occurrence of some associated diagnoses. The most common abnormalities associated with vertebral malformation were cranial nerve palsy, radial hypoplasia, club feet, dislocated hip, Sprengel's deformity, imperforate anus, hemifacial microsomia, and renal and cardiac anomalies. Comprehensive evaluation of patients with vertebral anomalies will be enhanced by knowledge of the type and frequency of associated anomalies.

Abnormalities, Multiple↗

PubMed2002

Hemimetameric segmental shift: a case series and review.

STUDY DESIGN: A case series of patients with hemimetameric shift. OBJECTIVES: To describe the radiographic and physical findings as well as treatment provided to a subset of patients with congenital scoliosis. SUMMARY OF BACKGROUND DATA: Hemimetameric segmental displacement, or hemimetameric shift, is a clinical entity defined by two contralateral hemivertebrae separated by at least one normal vertebra. Although the entity is briefly described in textbooks, there are no published series to date. METHODS: From 1974 to 2000, 186 cases of congenital scoliosis were identified from two referral centers. Of these, 27 cases (15%) of hemimetameric shift were identified. Medical records and radiographs were reviewed, as well as magnetic resonance imaging when available. RESULTS: There were an average of 2.9 hemivertebrae per patient (range 2-6) with the following distribution: T1-T6 (29), T7-T11 (28), T12-L1 (10), L2-L4 (11), and L5 (1). The average curve magnitude at presentation was 28 degrees (range 9 degrees -55 degrees). Nine patients required surgery-most commonly with involvement of the thoracolumbar or lumbosacral junction. Eleven patients also had associated anomalies to include Klippel-Feil syndrome (3), Goldenhar syndrome (2), imperforate anus (2), tracheoesophageal fistula (2), and a single kidney (2). There was only one patient who had an abnormal magnetic resonance imaging (1 out of 17; 6%). CONCLUSIONS: Hemimetameric shift is a common finding in congenital scoliosis. Hemivertebrae are most commonly found in the thoracic spine; however, surgical intervention is most commonly observed when the caudal hemivertebrae is located from the thoracolumbar to lumbosacral junction. The incidence of abnormal magnetic resonance imaging findings is low (6%).

Adolescent↗

PubMed1997

Severe cardiac defect in a patient with the OEIS complex.

The OEIS complex is an association of fetal malformations including omphalocele, exstrophy of the cloaca, imperforate anus and spinal defects. We present a fetus with the OEIS complex in combination with a cardiac defect. Until now very few cases with this combination have been described.

Abnormalities, Multiple↗

PubMed2002

Tibial agenesis with radial ray and cardiovascular defects.

The combination of tibial agenesis with radial ray and cardiovascular defects has been observed in patients with Mendelian disorders and in those with multiple congenital anomalies of unknown cause. We report two apparently unrelated children who had unusual combinations of such findings in association with other, predominantly midline, anomalies (imperforate anus, extra ribs, uterus didelphys). Comparison of the anomalies in these infants and similar cases from the literature suggests that they may represent examples of an association of the cardiogenic and limb developmental fields occurring either as manifestations of a previously unrecognized single gene disorder or as an expansion of the VACTERL association.

Abnormalities, Multiple↗

PubMed2004

Voiding cystourethrography in boys. Does the presence of the catheter during voiding alter the evaluation of the urethra?

PURPOSE: We determined whether the presence of the catheter during the voiding phase of voiding cystourethrography alters the evaluation of the urethra concerning the normal structures as well as pathological findings, especially posterior urethral valves. MATERIALS AND METHODS: A total of 123 males 3 days to 16 years old (median age 2.6 months) underwent voiding cystourethrography. Urethral catheterization was performed in all cases. Four views were taken during the voiding phase with and without the catheter in place. Only 80 patients had available results. These examinations were studied with special attention to the normal structures and pathological findings. RESULTS: A total of 36 examinations (45%) were normal. Pathological findings were observed in 44 patients (55%), with abnormal vesical findings and/or vesicoureteral reflux in 33 (41.25%). In 11 patients (13.75%) 12 urethral abnormalities were found (posterior urethral valves 3, hypospadias 4, prostatic utricle 1, verumontanum polyp 1, prune belly syndrome with urethral dilatation 1, imperforate anus with urethral fistula 1 and urethral duplication 1). In all cases excluding those involving hypospadias there was no difference between the views with and without the catheter. However, concerning the normal structures, the verumontanum and fossa navicularis were better delineated without the catheter in 27% and 33% of cases, respectively. CONCLUSIONS: Our study shows that a urethral catheter does not alter the diagnosis of abnormalities of the posterior urethra but may hamper the observation of normal structures or abnormalities of the anterior urethra.

Adolescent↗

PubMed2004

The new Malone antegrade continence enema automatic instillation device allows independence and decreases flush times.

PURPOSE: The Malone antegrade continence enema procedure has changed the lives of many school-aged children who would otherwise be in diapers. Unfortunately, our current procedures to flush the Malone antegrade continence enema are difficult to accomplish independently and require an extensive time commitment. In this study we confirm that a new device, the ACE Malone automatic instillation device (ACE-MAID) is safe and effective, will decrease the time it takes to perform the flush and will increase independence. MATERIALS AND METHODS: Nine patients were prospectively enrolled for a 1-year study. Patient age ranged from 4 to 16 years, and diagnoses included spina bifida (3 cases), imperforate anus (4) and infantile meningitis (1). The study consisted of initial and followup questionnaires, an "ACE-O-Gram," quality assurance testing of the ACE-MAID and an objective observation of current flushing technique. RESULTS: The average objective start to finish flush time decreased from 45 minutes initially to 31 minutes using the ACE-MAID. Children who initially had more than 1 accident per month had a decrease in the number of stool accidents. When asked to compare the ACE-MAID device to the previous form of flushing 100% of patients stated that it was better. When asked if they would use the pump when the study was over 100% reported yes. CONCLUSIONS: The new ACE-MAID proved safe and effective, decreased flush times, may decrease stool accidents and facilitates independence for children treated with a MACE procedure.

Adolescent↗

PubMed2006

Basilar artery dolichoectasia in a boy with a combination of partial monosomy 18p and partial trisomy 20q.

We describe an 11-year-old boy with facial dysmorphism consisting of a round and flat face, hypertelorism, short nose, and down turned corners of the mouth. In addition, he had severe mental retardation, short stature, imperforate anus, and basilar artery dolichoectasia. Cytogenetic evaluation revealed an unbalanced paternally inherited translocation t(18;20)(p11.2q13.3), resulting in partial monosomy 18p and partial trisomy 20q. The combination of deletion 18pduplication 20q has not been previously described and we suggest that the unusual finding of basilar artery dolichoectasia may be a feature of one of the imbalances.

Child↗

PubMed2005

Thoracoscopic repair of esophageal atresia and tracheoesophageal fistula: a multi-institutional analysis.

OBJECTIVES: For the past 60 years, successful repair of esophageal atresia (EA) and distal tracheoesophageal fistula (TEF) has been performed via a thoracotomy. However, a number of reports have described adverse musculoskeletal sequelae following thoracotomy in infants and young children. Until now, only a few scattered case reports have detailed an individual surgeon's success with thoracoscopic repair of EA/TEF. This multi-institutional review represents the largest experience describing the results with this approach. METHODS: A cohort of international pediatric surgeons from centers that perform advanced laparoscopic and thoracoscopic operations in infants and children retrospectively reviewed their data on primary thoracoscopic repair in 104 newborns with EA/TEF. Newborns with EA without a distal TEF or those with an isolated TEF without EA were excluded. RESULTS: In these 104 patients, the mean age at operation was 1.2 days (+/-1.1), the mean weight was 2.6 kg (+/-0.5), the mean operative time was 129.9 minutes (+/-55.5), the mean days of mechanical ventilation were 3.6 (+/-5.8), and the mean days of total hospitalization were 18.1 (+/-18.6). Twelve (11.5%) infants developed an early leak or stricture at the anastomosis and 33 (31.7%) required esophageal dilatation at least once. Five operations (4.8%) were converted to an open thoracotomy and one was staged due to a long gap between the 2 esophageal segments. Twenty-five newborns (24.0%) later required a laparoscopic fundoplication. A recurrent fistula between the esophagus and trachea developed in 2 infants (1.9%). A number of other operations were required in these patients, including imperforate anus repair in 10 patients (7 high, 3 low), aortopexy (7), laparoscopic duodenal atresia repair (4), and various major cardiac operations (5). Three patients died, one related to the EA/TEF on the 20th postoperative day. CONCLUSIONS: The thoracoscopic repair of EA/TEF represents a natural evolution in the operative correction of this complicated congenital anomaly and can be safely performed by experienced endoscopic surgeons. The results presented are comparable to previous reports of babies undergoing repair through a thoracotomy. Based on the associated musculoskeletal problems following thoracotomy, there will likely be long-term benefits for babies with this anomaly undergoing the thoracoscopic repair.

Cohort Studies↗

PubMed1984

Unilateral duplication of the femur associated with myelomeningocele.

A case of complete duplication of the left femur is presented. This anomaly was associated with ipsilateral tibial hemimelia, lumbar myelomeningocele, extrophy of the cloaca, ambiguous genitalia, imperforate anus, and omphalocele. The constellation of anomalies implies an insult at about the fourth week of gestation. Maternal ingestion of hydroxyzine was reported in this case. Management of the limb anomaly was by resection of the duplicate femur and malformed leg. Preoperative arteriography was found helpful.

Abnormalities, Multiple↗

PubMed1977

X-linked skeletal dysplasia with mental retardation.

A syndrome compatible with an X-linked trait is described, affecting four male cousins in three sibships. The body had skeletal anomalies, including short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sarcral hypoplasia and short middle phalanges. In addition, they had moderate developmental retardation, and abducens palsies. Three of the four had glucose intolerance, and one was born with an imperforate anus. Of five female obligate carriers studied, three had fusion of cervical vertebrae, three had some shortening of the middle phalanges and three had glucose intolerance. The syndrome in this family was compared to previously reported syndromes, and the conclusion was reached that it represents a previously unreported X-linked syndrome with minor manifestations in carrier females.

Abnormalities, Multiple↗

PubMed1995

Opitz BBBG syndrome: new family with late-onset, serious complication.

The Opitz BBBG syndrome is characterized by hypertelorism and (in male patients) hypospadias, in addition to a number of midline abnormalities: posterior laryngeal cleft, stridor, swallowing dysfunction, cardiac defects, imperforate anus, and urinary tract and CNS anomalies. Inheritance is autosomal dominant (McKusick number *145410) with partial male sex limitation in most pedigrees. We report a Dutch family with Opitz BBBG syndrome in which the proband developed late-onset symptoms of a structural laryngeal abnormality.

Abnormalities, Multiple↗

PubMed1996

Partial monosomy 10q and partial trisomy 9q with anal atresia due to maternal translocation: t(9;10)(q32;q26).

We report a case of a boy with a partial deletion of the long arm of chromosome 10 and partial duplication of the long arm of chromosome 9 due to maternal balanced translocation. The karyotype was 46,XY,-10, +der(10)t(9;10)(q32;q26)mat. Our patient had imperforate anus and as this finding is usually not observed in association with trisomy 9q, it suggests that partial monosomy of the long arm of chromosome 10 might be associated with anogenital anomalies.

Abnormalities, Multiple↗

PubMed2004

Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1).

Recently, the polyglutamine-binding protein 1 (PQBP1) gene was found to be mutated in five of 29 families studied with X-linked mental retardation (XLMR) linked to Xp. The reported mutations include duplications or deletions of AG dinucleotides in the fourth coding exon that resulted in shifts of the open reading frame. Three of the five families with mutations in this newly identified XLMR gene have been reported previously. We characterized the phenotypic and neuropsychological features in the two unpublished families with aberrations in PQBP1 and in a family reported 10 years ago. In total, seven patients diagnosed with aberrations in this gene were examined, including a newly identified patient at 18 months of age. Additionally, the features were compared to those reported in the literature of three other families, comprising MRXS3 (Sutherland-Haan syndrome) MRX55 and MRXS8 (Renpenning syndrome). Characteristics seen in these patients are microcephaly, lean body habitus, short stature, striking facial appearance with long narrow faces, upward slant of the eyes, malar hypoplasia, prognathism, high-arched palate and nasal speech. In addition, small testes and midline defects as anal atresia or imperforate anus, clefting of palate and/or uvula, iris coloboma and Tetralogy of Fallot are seen in several patients. These observations contribute to the phenotypic knowledge of patients with PQBP1 mutations and make this XLMR syndrome well recognizable to clinicians.

Adolescent↗

PubMed1975

Sympus monopus accompanied by nephroblastoma--A case report.

An autopsy case of sirenomelia accompanied by nephroblastoma has been reported. In this case, there were many complicating anomalies such as left renal agenesis, absence of external genital organs, imperforate anus, mass of redundant skin over sacral region, two umbilical vessels, absence of great omentum and patent ductus arteriosus. We considered this malformation as sympus monopus.

Abnormalities, Multiple↗

PubMed1998

Using polymerase chain reaction for rapid sex-determination of a case of sirenomelia.

A rare case of sirenomelia with its autopsy findings is reported. The 1188 g infant was delivered by cesarean section at the 36th week of gestation, and died at 4 h of life. Physical and pathologic findings included sirenomelia (a single lower extremity mass), lung hypoplasia, bilateral renal agenesis, blind-ending colon, severe deformity of the bony pelvis, an imperforate anus, absence of the bladder, and a single umbilical artery. Because of the difficulty in determining the sex of the infant, PCR directed against the SRY gene was performed. The PCR-based sex determination is a rapid technique in patients with ambiguous genitalia.

Autopsy↗