Single-center outcome analysis of 46 fetuses with megacystis after intrauterine vesico-amniotic shunting with the Somatex®intrauterine shunt.

OBJECTIVES: To assess the spectrum of underlying pathologies, the intrauterine course and postnatal outcome of 46 fetuses with megacystis that underwent intrauterine vesico-amniotic shunting (VAS) with the Somatex® shunt in a single center. METHODS: Retrospective analysis of 46 fetuses with megacystis that underwent VAS either up to 14 + 0 weeks (early VAS), between 14 + 1 and 17 + 0 weeks (intermediate VAS) or after 17 + 0 weeks of gestation (late VAS) in a single tertiary referral center. Intrauterine course, underlying pathology and postnatal outcome were assessed and correlated with the underlying pathology and gestational age at first VAS. RESULTS: 46 fetuses underwent VAS, 41 (89%) were male and 5 (11%) were female. 28 (61%) fetuses had isolated and 18 (39%) had complex megacystis with either aneuploidy (n = 1), anorectal malformations (n = 6), cloacal malformations (n = 3), congenital anomalies overlapping with VACTER association (n = 6) or Megacystis-Microcolon Intestinal-Hypoperistalsis Syndrome (MMIHS) (n = 2). The sonographic 'keyhole sign' significantly predicted isolated megacystis (p < 0.001). 7 pregnancies were terminated, 4 babies died in the neonatal period, 1 baby died at the age of 2.5 months and 34 (74%) infants survived until last follow-up. After exclusion of the terminated pregnancies, intention-to-treat survival rate was 87%. Mean follow-up period was 24 months (range 1-72). The underlying pathology was highly variable and included posterior urethral valve (46%), hypoplastic or atretic urethra (35%), MMIHS or prune belly syndrome (10%) and primary vesico-ureteral reflux (2%). In 7% no pathology could be detected postnatally. No sonographic marker was identified to predict the underlying pathology prenatally. 14 fetuses underwent early, 24 intermediate and 8 late VAS. In the early VAS subgroup, amnion infusion prior to VAS was significantly less often necessary (7%), shunt complications were significantly less common (29%) and immediate kidney replacement therapy postnatally became less often necessary (0%). In contrast, preterm delivery ≤ 32 + 0 weeks was more common (30%) and survival rate was lower (70%) after early VAS compared to intermediate or late VAS. Overall, 90% of liveborn babies had sufficient kidney function without need for kidney replacement therapy until last follow-up, and 95% had sufficient pulmonary function without need for mechanical respiratory support. 18% of babies with complex megacystis suffered from additional health restrictions due to their major concomitant malformations. CONCLUSIONS: Our data suggest that VAS is feasible from the first trimester onward. Early intervention has the potential to preserve neonatal kidney function in the majority of cases and enables neonatal survival in up to 87% of cases. Despite successful fetal intervention, parents should be aware of the potential of mid- or long-term kidney failure and of additional health impairments due to concomitant extra-renal anomalies that cannot be excluded at time of intervention.

[Aphallia - report of two cases]. / Aphallie ­ zwei Fallbeispiele.

Aphallia is an extremely rare congenital malformation of unknown cause. The incidence is reported in the literature to be 1 in 10-30 million live births. Almost 100 cases have been described to date. Aphallia is associated with other congenital malformations (in particular urogenital and gastrointestinal anomalies) in >50% of cases. The diagnosis is made clinically and shows the complete absence of the corpora cavernosa and the corpus spongiosum with a urethral opening along the perineal midline (most frequently ventral to the anus and in the ventral rectal wall). Two case reports from the authors' department: The first child was a male newborn (46,XY) with penis agenesis and additional bilateral intraabdominal testis, an anorectal malformation (ARM) with a rectovesical fistula, as well as left renal duplication and grade III vesico-ureteral reflux on the right side. The second child was a male newborn (46,XY) with aphallia without further urological or anorectal malformation. Only right inguinal hernia was present. In the first patient, several corrective surgeries were performed in the further course in view of the additional malformations. With regard to the aphallia, the various temporary treatment options (scrotal or parascrotal phalloplasty or penis prosthesis) were discussed with the parents. Masculinizing surgery by means of definitive phalloplasty was planned once the patient has reached puberty. Due to the technical demands of phallus reconstruction, feminization is still favored in some countries in the literature, which nowadays, however, cannot be justified medically or legally.

Comparison of environmental risk factors for esophageal atresia, anorectal malformations, and the combined phenotype in 263 German families.

Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) and anorectal malformations (ARM) represent the severe ends of the fore- and hindgut malformation spectra. Previous research suggests that environmental factors are implicated in their etiology. These risk factors might indicate the influence of specific etiological mechanisms on distinct developmental processes (e.g. fore- vs. hindgut malformation). The present study compared environmental factors in patients with isolated EA/TEF, isolated ARM, and the combined phenotype during the periconceptional period and the first trimester of pregnancy in order to investigate the hypothesis that fore- and hindgut malformations involve differing environmental factors. Patients with isolated EA/TEF (n = 98), isolated ARM (n = 123), and the combined phenotype (n = 42) were included. Families were recruited within the context of two German multicenter studies of the genetic and environmental causes of EA/TEF (great consortium) and ARM (CURE-Net). Exposures of interest were ascertained using an epidemiological questionnaire. Chi-square, Fisher's exact, and Mann-Whitney U-tests were used to assess differences between the three phenotypes. Newborns with isolated EA/TEF and the combined phenotype had significantly lower birth weights than newborns with isolated ARM (P = 0.001 and P < 0.0001, respectively). Mothers of isolated EA/TEF consumed more alcohol periconceptional (80%) than mothers of isolated ARM or the combined phenotype (each 67%). Parental smoking (P = 0.003) and artificial reproductive techniques (P = 0.03) were associated with isolated ARM. Unexpectedly, maternal periconceptional multivitamin supplementation was most frequent among patients with the most severe form of disorder, i.e. the combined phenotype (19%). Significant differences in birth weight were apparent between the three phenotype groups. This might be attributable to the limited ability of EA/TEF fetuses to swallow amniotic fluid, thus depriving them of its nutritive properties. Furthermore, the present data suggest that fore- and hindgut malformations involve differing environmental factors. Maternal periconceptional multivitamin supplementation was highest among patients with the combined phenotype. This latter finding is contrary to expectation, and warrants further analysis in large prospective epidemiological studies.

Traumatic Vulvar Epithelial Inclusion Cysts Following Female Genital Mutilation (FGM).

Background: Female genital mutilation (FGM) occurs mainly in Africa, parts of the Arabian Peninsula and parts of Asia. It is commonly associated with acute complications as well as diverse late/delayed complications. One of the most common of these late complications is progressively enlarging painless cysts of the vulva. Case Report: An 8-year-old girl from Eritrea presented to our paediatric emergency department with a progressively enlarging mass of the vulva. She had undergone a clitoridectomy and partial removal of the labia minora as an infant in Eritrea. We performed surgical excision of the cyst and reconstruction of the labia. Histology showed a traumatic squamous epithelial inclusion cyst of the vulva. Conclusion: Epithelial or dermoid cysts of the vulva following FGM are extremely rare. Symptoms often require surgical intervention. Through increasing migration, more girls and female youths with FGM are likely to present to practices and hospitals in Germany. Thus increased knowledge and awareness of the medical complications of FGM and their treatment will be necessary in years to come.

[Therapy of pediatric femoral fractures. Two versus three elastic stable intramedullary nails]. / Therapie kindlicher Femurfrakturen. Zwei vs. drei elastisch-stabile intramedulläre Nägel.

BACKGROUND: The conservative treatment of pediatric femoral fractures can be socially and financially burdensome for patients and families due to the long period of immobilization. New operative techniques have consistently gained significance in the treatment of such fractures due to a shorter period of immobilization. Elastic stable intramedullary nailing (ESIN) in particular has been proven to lead to better outcome in comparison to conservative treatment. This article presents the first study that compares the outcome of three versus two ESINs in the treatment of pediatric femoral shaft fractures. MATERIAL AND METHODS: A retrospective analysis of all patients who underwent operative treatment of femoral fractures with ESINs in our hospital from 2009-2012 was carried out. A follow-up examination was performed in mid-2013 by standardized evaluation of leg length discrepancy and the movement capacity of the hip and knee joint. RESULTS: The follow-up examination revealed a leg length discrepancy of the injured leg when three ESINs were used (p = 0.013) and an impairment of the movement capacity in the hip joint of the injured leg (p = 0.029). In addition the surgery time for metal removal of three ESINs was higher (p = 0.046). All other evaluated parameters did not show any differences. CONCLUSION: In this study population the treatment of pediatric femoral shaft fractures with three ESINs showed no benefit in comparison to two ESINs and therefore should not be used to treat femoral fractures. The leg length discrepancy using three ESINs may be explained by a nonsymmetrical distribution of support points leading to an increased micromovement of the bone with increased callus formation.

[Severe degloving injury to both feet in a child]. / Schwere Degloving-Verletzung der Füße bei einem Kind.

Although rarely described, it is generally accepted that degloving injuries can successfully be treated by defatting the degloved skin and replacing it with a full-thickness graft. There have been few reports on the outcome of this reconstructive procedure in children. In this report, we describe the use of the VAC system to treat a case of degloving injury to both feet of a 4-year-old boy who was pulled into a luggage belt while standing on it.

Necrotizing enterocolitis in premature twins with twin-to-twin transfusion syndrome.

BACKGROUND: Twin-to-twin transfusion syndrome (TTTS) is a rare but serious clinical constellation that occurs in up to 35 % of monochorionic twin pregnancies. In TTTS, transplacental vascular anastomosis results in a net transfusion from one twin to the other, leading to multiple postnatal complications. We report on two sets of immature twins with TTTS and isolated small bowel perforation with consecutive NEC. MATERIALS AND METHODS: The gestational age of the male twins was 25 weeks and the gestational age of the female twins was 27 weeks; the mean birth weight was 560 g in the male and 780 g in the female twins. An assessment of the clinical history, including radiological and intraoperative findings and the postmortem examination is given. RESULTS: All 4 infants developed NEC with perforation of the distal ileum. Surgical intervention was performed in all 4 children. Three of the four children died due to complications of TTTS with consecutive NEC and septicemia. CONCLUSIONS: The most common explanation for NEC in TTTS is hypoperfusion of the gastrointestinal tract with consecutive hypoxemic damage, especially in the donor twin. In this report, a combination of immaturity and TTTS contributed to intestinal hypoperfusion and concomitant NEC. The pediatric surgeon should be aware of this complication and we recommend proactive surgical management in cases of TTTS.

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.

Congenital obstructive distal urethral membrane.

We present a rare case of complete distal urethral obstruction caused by a distal meatal membrane in a newborn boy. A cystic lesion of the distal penis was detected and excised, revealing a hypospadiac urethra. Further examination showed bilateral vesico-ureteral reflux with a dilated posterior urethra and urethral lesion, suggesting posterior urethral valves (PUV); these were confirmed at 2 months and resected endoscopically. At 16 months a left nephrectomy was performed due to impaired renal function on that side; there was no longer reflux on the right side. The obstruction probably did not become severe until late in gestation, but still led to functional loss of one kidney. The PUV do not seem to have been the cause of renal deterioration. The cystic lesion may have been a remnant of the cloacal membrane, but this is difficult to prove histologically.

Transient renal insufficiency by bilateral renal cysts and posterior urethral valves.

Renal insufficiency developed in a newborn with huge bilateral renal cysts and posterior urethral valves. Definitive therapy consisted of laser coagulation of the valves and transient percutaneous drainage of the cysts.

The effect of rectosigmoidectomy and Duhamel-type pull-through procedure on lower urinary tract function in children with Hirschsprung's disease.

BACKGROUND/PURPOSE: The aim of this study was to investigate the effect of rectosigmoidectomy and Duhamel-type pull-through procedure on lower urinary tract function in children with Hirschsprungs disease. METHODS: During a 3-year period the authors assessed 11 consecutive children with Hirschsprung's disease prospectively by standard urodynamic investigations, before and after surgery. Urodynamics included simultaneous measurement of abdominal pressure, bladder pressure, detrusor pressure, and pelvic floor electromyography during filling and voiding. All children were submitted to laparoscopic resection of the aganglionic bowel segment below the cul de sac and a Duhamel-type pull-through procedure. Postoperatively, the children were assessed urodynamically and evaluated every 3 months for urologic problems. RESULTS: Mean age at first urodynamic study was 5 months (range, 2 to 10). Postoperative urodynamics were performed at a mean age of 10 months (range, 5 to 159). The mean interval between operation and postoperative urodynamic study was 6 months (range, 2 to 10). No child had structural urologic anomalies or urologic problems before surgery, and all had normal preoperative urodynamic findings. After surgery, urodynamics were considered normal in 3 children. In 7 children cystometric bladder capacity (CBC) was abnormally large, and 6 of these children had significant residuals. However, all had detrusor contractility and were able to void spontaneously. One child had low bladder compliance postoperatively. Despite the urodynamic changes, no child had clinical urologic problems at further follow-up. Mean follow-up after surgery was 24 months. CONCLUSIONS: This study found that after rectosigmoidectomy below the cul de sac alterations of bladder function can be observed. In 7 of the 11 patients studied, mean cystometric bladder capacity was 87% higher than capacity estimated for age. Moreover, postoperative residuals were 156% higher than the preoperative values. These findings suggest that partial detrusor denervation is likely in these patients. However, because detrusor contractility was present, and none of the children had retention or any urologic problems, the findings must be interpreted carefully. Because children with Hirschsprung's disease generally do not have preexisting urologic problems, routine preoperative urodynamic screening is not necessary. However, children with voiding problems after operation should be investigated urodynamically. For legal reasons parents should be informed of possible urologic problems, especially if subtotal resection of the aganglionic bowel segment is planned.

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.

Urological problems after surgical treatment of scoliosis in children with myelomeningocele.

PURPOSE: We assessed urological problems and complications after scoliosis surgery in children with myelomeningocele. MATERIALS AND METHODS: A total of 16 children with myelodysplasia underwent surgery for scoliosis using different surgical techniques and instrumentation systems. Mean patient age at operation as 11 years and mean postoperative followup was 3 years. All patients had urological assessment before and after surgery, including urodynamics. RESULTS: Urological problems after surgical correction of scoliosis developed in 6 patients (38%). Three girls had difficulty performing clean intermittent self-catheterization postoperatively because of altered body posture, a genital pressure sore and a plaster body cast, respectively. In 4 patients, including 1 girl with problems performing clean intermittent self-catheterization, lower urinary tract function was altered, leading to upper urinary tract deterioration in 1 and worsening of urinary incontinence in 3. CONCLUSIONS: Children with myelomeningocele have a high incidence of urological complications after surgical treatment of scoliosis. Anticipation of the problems and a thorough postoperative urological evaluation, including urodynamics, can reduce morbidity and facilitate appropriate treatment.

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.