Thomas M. Boemers

Urologic problems in anorectal malformations. Part 1: Urodynamic findings and significance of sacral anomalies.

A series of 90 children with anorectal malformations received a total of 163 urodynamic studies. The mean number of studies per patient was 1.8 (range, 1 to 7), and the mean age at the time of initial evaluation was 17 months (range, 1 to 128). Sacral anomalies were found in 38 children (42%); 30 of them had partial sacral agenesis and eight had sacral dysplasia without bony defect. Normal lower urinary tract function was found in 98% of the children who had a normal sacrum, in all children who had sacral dysplasia, and in a small number of those who had partial sacral agenesis that affected smaller parts of the S-4 and S-5 pedicles. Severe lower urinary tract dysfunction was observed in 22 patients (24%), all but one of whom had partial sacral agenesis. There was no correlation between the type of sacral agenesis and a specific urodynamic pattern. It is concluded that virtually all children with an anorectal malformation and associated sacral agenesis have neurological bladder-sphincter dysfunction and therefore should receive early urodynamic assessment and appropriate urological treatment.

Epidemiological Survey of 214 Families With Bladder Exstrophy-Epispadias Complex

PURPOSE We sought to identify causative nongenetic and genetic risk factors for the bladder exstrophy-epispadias complex. MATERIALS AND METHODS A total of 237 families with the bladder exstrophy-epispadias complex were invited to participate in the study, and information was obtained from 214 families, mainly from European countries. RESULTS Two families showed familial occurrence. Male predominance was found among all subgroups comprising epispadias, classic bladder exstrophy and cloacal exstrophy, with male-to-female ratios of 1.4:1, 2.8:1 and 2.0:1, respectively (p = 0.001). No association with parental age, maternal reproductive history or periconceptional maternal exposure to alcohol, drugs, chemical noxae, radiation or infections was found. However, periconceptional maternal exposure to smoking was significantly more common in patients with cloacal exstrophy than in the combined group of patients with epispadias/classic bladder exstrophy (p = 0.009). Only 16.8% of mothers followed the current recommendations of periconceptional folic acid supplementation, and 17.6% had started supplementation before 10 weeks of gestation. Interestingly, in the latter group mothers of patients with cloacal exstrophy were more compliant with folic acid supplementation than were mothers of the combined group of patients with epispadias/classic bladder exstrophy (p = 0.037). Furthermore, mothers of children with cloacal exstrophy knew significantly more often prenatally that their child would have a congenital malformation than did mothers of children with epispadias/classic bladder exstrophy (p <0.0001). CONCLUSIONS Our study corroborates the hypothesis that epispadias, classic bladder exstrophy and cloacal exstrophy are causally related, representing a spectrum of the same developmental defect, with a small risk of recurrence within families. Embryonic exposure to maternal smoking appears to enforce the severity, whereas periconceptional folic acid supplementation does not seem to alleviate it. There is a disproportional prenatal ultrasound detection rate between severe and mild phenotypes, possibly due to the neglect of imaging of full bladders with a focus on neural tube defects.

The surgical correction of buried penis : a new technique

AbstractPurpose: We report a new surgical technique for the correction of buried penis.Materials and Methods: The study comprised 10 boys with buried penis. The technique consisted of resection of abnormal dartos attachments, unfurling of the prepuce and correction of the deficient shaft skin by reapproximation of the preputial skin flaps in a defined way to obtain sufficient penile skin coverage.Results: Outcome was excellent in 6 cases, good in 3 and unsatisfactory in 1.Conclusions: Perfect cosmetic results were obtained and no serious complications developed.

Lower Urinary Tract Dysfunction in Children with Benign Sacrococcygeal Teratoma

We evaluated 8 girls and 3 boys with benign sacrococcygeal teratoma for lower urinary tract dysfunction. All children underwent ultrasonography of the urinary tract, voiding cystourethrography and at least 2 standard urodynamic evaluations. Mean patient age at first urodynamic study was 59 months (range 1 to 136). Nine of the 11 children had abnormal studies, including detrusor instability and associated pelvic floor overactivity during micturition in 2, an anatomical infravesical obstruction in 2 and neurogenic bladder-sphincter dysfunction in 5 (2 detrusor hyperreflexia with sphincter dyssynergia, 2 hyporeflexic bladder-sphincter function and 1 detrusor hyporeflexia with normal sphincter function). Although the major cause of neurogenic lower urinary tract dysfunction seems to be related to surgical trauma of the pelvic plexus and sacral nerves, we observed tethered spinal cord as a primary cause in 2 patients. The incidence of voiding dysfunction in children with sacrococcygeal teratoma is high and is usually neurogenic in origin.

Neonatal Management of Female Intersex by Clitorovaginoplasty

Historically, in female pseudohermaphrodites a staged procedure with early clitoral reduction and delayed vaginoplasty was often the treatment of choice. In recent years several authors have described 1-stage genitoplasty that is performed in the first year of life. The 1-stage procedure for clitoroplasty and vaginal exteriorization is preferable for an optimal functional and cosmetic result. Because of the emotional aspects of the family in intersex cases, neonatal reconstruction offers advantages to the child and parents. Furthermore, the perinatal genital hyperstimulation by maternal and placental estrogens that persists into the first 3 to 4 weeks of life produces vaginal enlargement by mucous secretion and vaginal wall hypertrophy, facilitating identification of the cleavage planes and vaginal pull-through. These arguments have led us to treat these patients by neonatal 1 stage clitorovaginoplasty. Cosmetic and functional results in 5 consecutive cases have been excellent without serious complications.

Urologic problems in anorectal malformations. Part 2: Functional urologic sequelae

A consecutive series of 90 children with anorectal malformations was reviewed for urologic problems related to lower urinary tract dysfunction. Neurogenic bladder-sphincter dysfunction was seen in 22 patients (24%), all but one of whom had sacral agenesis. Vesicoureteral reflux was present in 60% of the patients with dysfunction, and 32% had reflux nephropathy. Urinary incontinence was present in 91% of the patients who had bladder-sphincter dysfunction. However, the management of bladder-sphincter dysfunction and urinary incontinence was not as straightforward as for patients with myelodysplasia because the parents were more reluctant to accept the therapeutic measures. It was particularly difficult to introduce clean intermittent catheterization (CIC), especially in older patients, because genital and urethral sensation often was undisturbed. Only if CIC had been started in the neonatal period or early infancy were there no problems with acceptance and parental compliance. The authors emphasize the importance of urodynamic testing of neonates and infants who have an anorectal malformation and associated sacral agenesis in identifying those who have neurogenic bladder-sphincter dysfunction. Consequently, patients with lower urinary tract dysfunction should receive prompt treatment, including CIC if necessary, to prevent or reduce secondary urologic morbidity, especially loss of renal function.

Urodynamic Evaluation of Children with the Caudal Regression Syndrome (Caudal Dysplasia Sequence)

A total of 50 children with the caudal regression syndrome (caudal dysplasia sequence) underwent urodynamic evaluation of lower urinary tract function. Of the patients 15 had isolated sacral agenesis, 13 had sacral agenesis in combination with an anorectal malformation and 22 had an anorectal malformation without sacral anomaly. Neurogenic bladder-sphincter dysfunction was observed in 11 of the 15 children with isolated sacral agenesis (73%) and in 10 of the 13 children with combined sacral agenesis and anorectal malformation (77%). The pattern of neurogenic bladder-sphincter dysfunction in both groups did not differ significantly. In the group of 22 children with isolated anorectal malformation only 1 had signs of neurogenic bladder-sphincter dysfunction. These results indicate that anorectal malformation per se does not influence lower urinary tract function and that the sacral anomaly is the determining factor for neurogenic bladder-sphincter dysfunction in children with anorectal malformation.

The Effect of Posterior Sagittal Anorectoplasty and its Variants on Lower Urinary Tract Function in Children With Anorectal Malformations

The effect of posterior sagittal anorectoplasty (PSARP) and its variants on lower urinary tract function was investigated urodynamically in 32 patients with anorectal malformations. In 27 patients urodynamic evaluation was performed before and after surgery and in 4 it was done postoperatively only. One child was clinically assessed with no postoperative urodynamic study. Minor postoperative changes in the specific preoperative urodynamic pattern were observed in 4 cases but the changes did not seem to be related to surgery. In 3 boys with rectourethral fistulas detrusor failure consistent with autonomic denervation was noted postoperatively. Standard posterior sagittal anorectoplasty was performed in 1 of the 3 boys and posterior sagittal anorectoplasty combined with additional transabdominal procedures was done in the other 2. In general our findings suggest that posterior sagittal anorectoplasty and its variants do not affect lower urinary tract function unless these surgical techniques are combined with major transabdominal procedures and extensive retrovesical dissection.

Guidelines for the urological screening and initial management of lower urinary tract dysfunction in children with anorectal malformations : the ARGUS protocol

urinary tract dysfunction [4]; 60% of the patients with Introduction sacral agenesis have tethering of the spinal cord [10]. Therefore, all neonates with ARMs should be screened Children with associated AnoRectal, GenitoUrinary and Sacral anomalies (ARGUS) often have significant urofor sacral anomalies. Anteroposterior and lateral plain X-ray films should be taken to assess abnormalities of logical problems and long-term sequelae [1–8]. As in children with myelodysplasia, morbidity in these patients the vertebral bodies and alignment of the spinal column (Fig. 2). The anteroposterior film must be obtained as can be reduced by routine screening of all neonates with anorectal malformations (ARMs) and the prompt soon as possible after birth because the sacrum will generally not be obscured by air in the rectum. The initiation of appropriate therapeutic measures. Continued studies on functional urological problems in children film should also include the thoracic spine, enabling a count of the thoracic, lumbar and sacral vertebrae. A with ARMs have enabled the formulation of guidelines for the initial diagnostic assessment and therapeutic thoracic vertebra is defined as a rib-bearing vertebra and the last rib-bearing vertebra serves as a landmark management of these patients [1–5]. This report is based on the findings of 100 children to count the lumbar and sacral vertebrae. The fifth sacral vertebra has lateral masses, the first coccygeal with ARMs seen at our institution between February 1981 and February 1996. Of these patients, 90 have vertebra does not. However, in premature children the lateral masses of the fifth sacral vertebra can be been described previously [4,5]. All children were screened for sacral anomalies, structural genitourinary anounossified. The distal spinal column should be scrutinized for disorders of alignment and symmetry of malies and lower urinary tract dysfunction. Patients seen between 1990 and 1995 also underwent routine screenvertebral bodies, which we define as sacral dysplasia (Fig. 3a). Sacral agenesis on the other hand is defined ing for intraspinal anomalies by spinal ultrasonography (US) and MRI. The last 10 patients were screened and as any true bony defect of the vertebral bodies (Figs 3b-e). managed in the neonatal period and early infancy according to the protocol presented in Fig. 1. The patients Spinal US. If the plain film of the spinal column is and methods have been described in detail previously abnormal, spinal US can be used to detect associated [1–5,9]. intraspinal pathology [3,11,12]. Spinal US is feasible in children up to 1 year old because the vertebral arches Guidelines for screening are not ossified and do not attenuate the ultrasound [12]. US and MRI are comparable in depicting the Screening for sacral anomalies presence or absence of intraspinal pathology, but MRI delineates the specific nature of the abnormalities more Plain radiographs of the vertebral column. Of the patients clearly [3]. US can therefore be used as a reliable with ARMs 25% have sacral agenesis and #75% of screening method for detecting associated intraspinal the patients with sacral agenesis will have lower pathology in patients with sacral anomalies. We have found no intraspinal pathology with either method in Accepted for publication 3 November 1998

Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy

The exstrophy-epispadias complex (EEC) comprises a spectrum of urogenital anomalies in which part or all of the distal urinary tract fails to close. The present study aimed to identify microaberrations characterized by loss or gain of genomic material that contribute to the EEC at a genome-wide level. Molecular karyotyping, utilizing 549,839 single nucleotide polymorphisms (SNPs) with an average spacing of 5.7 kilobases, was performed to screen an initial cohort of 16 patients with non-syndromic EEC. A de novo microduplication involving chromosomal region 22q11.21 was identified in one patient with classic exstrophy of the bladder (CBE). Subsequent multiplex ligation-dependent probe amplification (MLPA) analysis was performed with an MLPA 22q11 kit in a further 50 non-syndromic EEC cases. We identified one CBE patient with an overlapping 22q11.21 duplication in whom the duplication had been transmitted from the unaffected mother. Chromosomal region 22q11 is well known for its susceptibility to genomic rearrangements, and these are associated with various syndromes including the velo-cardio-facial/DiGeorge syndrome (VCFS/DGS), the der(22) syndrome, and the cat-eye syndrome. Duplications in this region result in a wide and variable spectrum of clinical presentations that include features of the VCFS/DGS, while some carriers present with a completely normal phenotype. Our findings extend the phenotypic spectrum of the 22q11.2 duplication syndrome, and indicate that this aberration predisposes to CBE with incomplete penetrance.