Rectal atresia and rectal stenosis: the ARM-Net Consortium experience.

PURPOSE: To assess the number, characteristics, and functional short-, and midterm outcomes of patients with rectal atresia (RA) and stenosis (RS) in the ARM-Net registry. METHODS: Patients with RA/RS were retrieved from the ARM-Net registry. Patient characteristics, associated anomalies, surgical approach, and functional bowel outcomes at 1 and 5-year follow-up were assessed. RESULTS: The ARM-Net registry included 2619 patients, of whom 36 (1.3%) had RA/RS. Median age at follow-up was 7.0 years (IQR 2.3-9.0). Twenty-three patients (63.9%, RA n = 13, RS n = 10) had additional anomalies. PSARP was the most performed reconstructive surgery for both RA (n = 9) and RS (n = 6) patients. At 1-year follow-up, 11/24 patients with known data (45.8%, RA n = 5, RS n = 6) were constipated, of whom 9 required stool softeners and/or laxatives. At 5-year follow-up, 8/9 patients with known data (88.9%, RA n = 4, RS n = 4) were constipated, all requiring laxatives and/or enema. CONCLUSION: RA and RS are rare types of ARM, representing 1.3% of patients in the ARM-Net registry. Additional anomalies were present in majority of patients. Different surgical approaches were performed as reconstructive treatment, with constipation occurring in 46% and 89% of the patients at 1 and 5-year follow-up. However, accurate evaluation of long-term functional outcomes remains challenging.

Perineal Groove: An Anorectal Malformation Network, Consortium Study.

OBJECTIVE: To review the Anorectal Malformation Network experience with perineal groove (PG) focusing on its clinical characteristics and management. STUDY DESIGN: Data on patients with PG managed at 10 participating Anorectal Malformation Network centers in 1999-2019 were collected retrospectively by questionnaire. RESULTS: The cohort included 66 patients (65 females) of median age 1.4 months at diagnosis. The leading referral diagnosis was anal fissure (n = 20 [30.3%]): 23 patients (34.8%) had anorectal malformations. Expectant management was practiced in 47 patients (71.2%). Eight (17%) were eventually operated for local complications. The median time to surgery was 14 months (range, 3.0-48.6 months), and the median age at surgery was 18.3 months (range, 4.8-58.0 months). In the 35 patients available for follow-up of the remaining 39 managed expectantly, 23 (65.7%) showed complete or near-complete self-epithelization by a mean age 15.3 months (range, 1-72 months) and 4 (11.4%) showed partial self-epithelization by a mean age 21 months (range, 3-48 months). Eight patients showed no resolution (5 were followed for ≤3 months). Nineteen patients (28.7%) were primarily treated with surgery. In total, 27 patients were operated. Dehiscence occurred in 3 of 27 operated patients (11.1%). CONCLUSIONS: PG seems to be an underestimated anomaly, frequently associated with anorectal malformations. Most cases heal spontaneously; therefore, expectant management is recommended. When associated with anorectal malformations requiring reconstruction, PG should be excised in conjunction with the anorectoplasty.

Embryological and clinical implications of the association between anorectal malformations and spinal dysraphisms.

PURPOSE: To describe the association of anorectal malformation (ARM) and spinal dysraphism (SD) in terms of impact on the management of SD and embryogenetic implications. METHODS: Patients with SD associated with (A) or without (B) ARM were included. The two groups were further divided into operated on (A1/B1) or not (A2/B2) for SD. Groups A and B were compared for type of SD (embryogenetic classification) and prevalence of neurosurgery; Groups A1 vs. A2 for type of ARM (Wingspread classification); Groups A1 vs. B1 for age at neurosurgery, neurophysiology, and clinical symptoms. MAIN RESULTS: One hundred twenty-one patients with SD, 83 with and 38 without ARM were consecutively treated (1999-2015). Group A was associated only with SDs developing after primary neurulation, corresponding to the period of cloacal septation and organogenesis (p = 0.0007). Untethering surgery was significantly less frequent in Group A (p < 0.0001 and p = 0.04, respectively). Higher ARMs were not associated with increased risk for neurosurgery. No other significant differences were detected. CONCLUSIONS: In our series, ARMs were associated only with SD developing after primary neurulation, suggesting a single insult leading to both SD and the associated ARM. Neurosurgery is indicated less frequently in patients with ARM-associated SD, despite the similar preoperative clinical features.

Bowel function and associated risk factors at preschool and early childhood age in children with anorectal malformation type rectovestibular fistula: An ARM-Net consortium study.

BACKGROUND: Outcome of patients operated for anorectal malformation (ARM) type rectovestibular fistula (RVF) is generally considered to be good. However, large multi-center studies are scarce, mostly describing pooled outcome of different ARM-types, in adult patients. Therefore, counseling parents concerning the bowel function at early age is challenging. Aim of this study was to evaluate bowel function of RVF-patients at preschool/early childhood age and determine risk factors for poor functional outcome. METHODS: A multi-center cohort study was performed. Patient characteristics, associated anomalies, sacral ratio, surgical procedures, post-reconstructive complications, one-year constipation, and Bowel Function Score (BFS) at 4-7 years of follow-up were registered. Groups with below normal (BFS < 17; subgroups 'poor' ≤ 11, and 'fair' 11 < BFS < 17) and good outcome (BFS ≥ 17) were formed. Univariable analyses were performed to detect risk factors for outcome. RESULTS: The study included 111 RVF-patients. Median BFS was 16 (range 6-20). The 'below normal' group consisted of 61 patients (55.0%). Overall, we reported soiling, fecal accidents, and constipation in 64.9%, 35.1% and 70.3%, respectively. Bowel management was performed in 23.4% of patients. Risk factors for poor outcome were tethered cord and low sacral ratio, while sacral anomalies, low sacral ratio, prior enterostomy, post-reconstructive complications, and one-year constipation were for being on bowel management. CONCLUSIONS: Although median BFS at 4-7 year follow-up is nearly normal, the majority of patients suffers from some degree of soiling and constipation, and almost 25% needs bowel management. Several factors were associated with poor bowel function outcome and bowel management. LEVEL OF EVIDENCE: Level III.

Symptomatic vocal cord paresis/paralysis in infants operated on for esophageal atresia and/or tracheo-esophageal fistula.

OBJECTIVES: To describe the prevalence and pathogenesis of symptomatic vocal cord paresis/paralysis (VCP) in patients treated for esophageal atresia (EA), tracheo-esophageal fistula (TEF) or both. STUDY DESIGN: Retrospective study of all patients treated for EA/TEF in our center (1995 to 2009). Patients with and without symptomatic VCP were compared for gestational age, birth weight, associated anomalies, referrals, long-gap EA (> 3 cm or 3 vertebral bodies), cervical esophagostomy, anastomotic leakage, length of ventilation, and major cardiac surgery. Prevalence or median (IQR) is reported. RESULTS: Of 174 patients, 7 (4%) had symptomatic VCP. Prevalence of referrals (5/7 versus 21/167; P = .0009), long gap (5/7 versus 41/167; P = .0146), previous cervical esophagostomy (5/7 versus 7/167; P < .0001), and anastomotic leakage (3/7 versus 10/167; P = .0097) was higher, and ventilation longer (8.5 days [7.0 to 15.5] versus 6.0 days (5.0 to 7.0); P = .0072) in patients with VCP. CONCLUSIONS: In infants treated for EA/TEF, VCP should be ruled out in case of persistent respiratory morbidity or, when present, cautiously monitored. Surgical risk factors should be actively controlled. Further studies are needed to define the prevalence of acquired and congenital VCP in patients with EA/TEF.

Operative Management of Neonatal Lymphatic Malformations: Lesson Learned From 57 Consecutive Cases.

Aim of the study: Lymphatic malformations (LMs) are rare entities, sometimes difficult to treat, that may be life-threatening when intricately connected to airway structures. Invasive treatments are occasionally required, with sclerotherapy considered the treatment of choice and surgery as a second-line approach. The aim of the present study was to evaluate our multidisciplinary team experience in treating newborns affected by LMs requiring operative management, while defining early outcomes. Methods: Retrospective review of all consecutive patients admitted for LMs requiring operative management between January 2000 and January 2019. Patients were mainly characterized based on anatomical district of the LM (and further stratified based on the development of respiratory distress), need for tracheostomy, number of sclerotherapies, indication for surgery, and residual disease beyond the 1st year. Morbidity and mortality were also evaluated. Fisher exact test and Mann-Whitney test were used as appropriate. Statistical significance was set at p < 0.05. Results: Fifty-seven patients were included in the study, 36 with cervicofacial and/or mediastinal LMs and 21 with LMs of other anatomical districts. Due to the risk of developing respiratory distress at birth, patients with cervicofacial and/or mediastinal LMs were divided into two groups (8/36 group A vs. 28/36 group B). Group A patients are at higher risk for tracheostomy (7/8 group A vs. 1/28 group B, p = 0.0001) and more often require surgical reduction of the residual lymphatic abnormality (5/8 group A vs. 4/28 group B, p = 0.013). They also require sclerotherapies more often, but the difference is not statistically significant (8/8 group A vs. 19/28 group B, p = 0.15). Patients with cervicofacial/mediastinal LMs frequently suffer from persistent residual disease beyond the 1st year of life, significantly more often in group A (7/8 group A vs. 12/28 group B, p = 0.043). Conclusion: LMs are rare conditions with potential life-threatening behavior. Their intrinsic clinical complexity requires a multidisciplinary approach to the affected patients. Planning a long-term follow-up is essential because of the late-term problems those patients may experience.

Inter- and Intraobserver Variation in the Assessment of Preoperative Colostograms in Male Anorectal Malformations: An ARM-Net Consortium Survey.

Aim: Male patients with anorectal malformations (ARM) are classified according to presence and level of the recto-urinary fistula. This is traditionally established by a preoperative high-pressure distal colostogram that may be variably interpreted by different surgeons. The aim of this study was to evaluate the inter- and intraobserver variation in the assessment by pediatric surgeons of preoperative colostograms with respect to the level of the recto-urinary fistula. Materials and Methods: Sixteen pediatric surgeons from 14 European centers belonging to the ARM-Net Consortium twice scored 130 images of distal colostograms taken in sagittal projection at a median age of 66 days of life (range: 4-1,106 days). Surgeons were asked to classify the fistula in bulbar, prostatic, bladder-neck, no fistula, and "unclear anatomy" example. Their assessments were compared with the intraoperative findings (kappa) for two scoring rounds with an interval of 6 months (intraobserver variation). Agreement among the surgeons' scores (interobserver variation) was also calculated using Krippendorff's alpha. A kappa over 0.75 is considered excellent, between 0.40 and 0.75 fair to good, and below 0.40 poor. Surgeons were asked to score the images in "poor" and "good" quality and to provide their years of experience in ARM treatment. Results: Agreement between the image-based rating of surgeons and the intraoperative findings ranges from 0.06 to 0.45 (mean 0.31). Interobserver variation is higher (Krippendorff's alpha between 0.40 and 0.45). Years of experience in ARM treatment does not seem to influence the scoring. The mean intraobserver variation between the two rounds is 0.64. Overall, the quality of the images is considered poor. Images categorized as having a good quality result in a statistically significant higher kappa (mean: 0.36 and 0.37 in the first and second round, respectively) than in the group of bad-quality images (mean: 0.25 and 0.23, respectively). Conclusions: There is poor agreement among experienced pediatric colorectal surgeons on preoperative colostograms. Techniques and analyses of images need to be improved in order to generate a homogeneous series of patients and make comparison of outcomes reliable.

Bladder after total urogenital mobilization for congenital adrenal hyperplasia and cloaca--does it behave the same?

PURPOSE: Followup of total urogenital mobilization for persistent urogenital sinus is well established anatomically and functionally. Nevertheless, studies comparing bladder function in different subsets of patients with urogenital sinus, such as congenital adrenal hyperplasia and cloaca, are scant. MATERIALS AND METHODS: We reviewed the records of patients with congenital adrenal hyperplasia and cloaca who underwent total urogenital mobilization and urodynamics in the last 10 years. Those with a short urogenital sinus (less than 2.5 cm) not requiring an abdominal approach and without spinal dysraphism were selected for study. Urodynamics were performed postoperatively before and after toilet training, and compared between patients with congenital adrenal hyperplasia and cloaca. Methods, definitions and units conformed to International Continence Society/International Children's Continence Society standards. For the emptying phase we defined bladder outlet obstruction as maximum detrusor pressure greater than 70 cm H(2)O and underactive detrusor as maximum detrusor pressure less than 20 cm H(2)O plus post-void residual urine greater than 25 ml. RESULTS: Six patients with congenital adrenal hyperplasia and 6 with cloaca met study criteria. Three patients with congenital adrenal hyperplasia and 4 with cloaca underwent urodynamics before and after toilet training at a median age of 2 (range 2 to 4) and 5 years (range 3 to 8), respectively. Urodynamics were done in 1 patient with congenital adrenal hyperplasia before toilet training, and in 2 with congenital adrenal hyperplasia and 2 with cloaca after toilet training. All patients had normal urodynamics except 1 with congenital adrenal hyperplasia and detrusor overactivity, which normalized after toilet training. In all cloaca cases urodynamics were abnormal. Before toilet training bladder outlet obstruction was found in 2 patients, detrusor underactivity was found in 1 and detrusor overactivity was found in the remaining 1. After toilet training a detrusor underactivity pattern was found in 4 patients and bladder outlet obstruction was found in 2. All patients except 1 with cloaca had post-void residual urine before and after toilet training (median 100 ml, range 25 to 200). After toilet training all patients with congenital adrenal hyperplasia became spontaneously dry and all with cloaca were placed on clean intermittent catheterization. CONCLUSIONS: In the long term patients with cloaca show bladder outlet obstruction or underactive/acontractile detrusor patterns, which are not noted in patients with congenital adrenal hyperplasia. Therefore, in patients with cloaca urogenital sinus length may not be as good an indicator of functional results as it is in patients with congenital adrenal hyperplasia. Whether additional rectal dissection and repositioning surgical procedures in cloaca cases may have a role in explaining such a difference remains to be clarified.

Prenatal counselling of small bowel atresia: watch the fluid!

OBJECTIVE: To evaluate polyhydramnios as a sign of extreme disproportion of atretic segments in small bowel atresia (SBA). METHODS: Twenty-eight patients with a prenatal diagnosis (PD) of SBA undergoing neonatal surgical treatment were reviewed retrospectively. Parameters recorded were gestational age, birth weight, surgical procedure, rate of complications, parenteral nutrition (PN) days and length of stay (LOS). Patients were divided into two groups: Group A with delayed anastomosis and Group B with direct anastomosis. RESULTS: Seventeen subjects were in Group A while 11 were in Group B. The two groups did not differ with regard to gestational age at diagnosis, birth weight and obstetrical management. Polyhydramnios was present in both Group A (64.7%) and Group B (9%) (p < 0.05). Patients in Group A needed a longer period on PN, had a longer LOS and exhibited significantly higher rates of complication. CONCLUSION: In the absence of other malformations, association of dilated bowel loops and polyhydramnios is highly predictive of severe SBA, which can in no instance be amenable to one-stage reconstruction. Because of its consequences on postnatal treatment, such information should be conveyed to the prospective parents at the time of counselling.

Preoperative tracheobronchoscopy in newborns with esophageal atresia: does it matter?

BACKGROUND/PURPOSE: Despite surgical refinements, perioperative use of tracheobronchoscopy (TBS) as part of surgical approach to esophageal atresia (EA) is still controversial. The purpose of this study was to evaluate the influence of preoperative TBS in newborns with EA in preventing complications and improving diagnosis and surgical treatment. METHODS: In the period ranging from 1997 to 2003, 62 patients with EA underwent preoperative TBS. The procedure was carried out with flexible bronchoscope maintaining spontaneous breathing. When a wide carinal fistula was found, this was mechanically occluded by Fogarty catheter and cannulated with rigid bronchoscopy. Type of EA, surgical procedure variations caused by TBS, and associated anomalies not easily detectable were recorded. RESULTS: Before TBS, the Gross classification of the 62 patients was as follows: type A, 9 patients; type B, none; type C, 51 patients. At TBS, however, 3 of 9 type A patients had an unsuspected proximal fistula (type B). These 3 patients, plus the 2 with H-type fistula, were repaired through a cervical approach. In 4 patients, previously undetected malformations of the respiratory tree (2 aberrant right upper bronchus and 2 hypoplastic bronchi) were found at TBS. Carinal fistulas in 14 type C patients were occluded by Fogarty catheter to improve ventilation during repair. No complications were observed. Overall, TBS was clinically useful in 28 (45.2%) of 62 patients, including 15 (24.2%) of 62 infants in whom it was crucial in modifying the surgical approach. CONCLUSION: Tracheobronchoscopy is a useful and safe procedure and should be recommended in tertiary centers for babies with EA before surgical repair.

Sonographic biometry of liver and spleen size long after closure of abdominal wall defects.

UNLABELLED: Little is known about the fate of the liver and spleen after closure of the abdominal cavity in patients with abdominal wall defects (AWD). Therefore, counselling families for long-term follow-up and in the case of surgery for acute disease, pregnancy or trauma may be difficult. A total of 18 patients ranging in age from 7 to 18 years, with AWD closed at birth, underwent ultrasound evaluation of liver and spleen size by determination of the index of liver size (ILS) and splenic volume (SV). These values were then correlated with some anthropometric parameters such as body mass index (BMI) and weight; correlation was also sought with some clinical features such as type of defect and direct or staged closure. Nearly all subjects exhibited weight above and BMI below the 50th percentile for age. ILS and SV were significantly above normal limits in all cases and no difference was found with regard to the type of defect. CONCLUSION: In patients having undergone surgery for abdominal wall defects, liver and spleen usually regain their normal shape and position even though size and volume appear to be larger than in normal controls.

Gait analysis in patients operated on for sacrococcygeal teratoma.

BACKGROUND: Long-term follow-up of sacrococcygeal teratoma (SCT) is well established; however, little is known about the effects of extensive surgery in the pelvic and perineal region, which involves disruption of muscles providing maximal support in normal walking. METHODS: Thirteen patients operated on at birth for SCT with extensive muscle dissection underwent gait studies with a Vicon 3-D motion analysis system with 6 cameras. Results were compared with 15 age-matched controls. Statistical analysis was performed with Mann-Whitney test; correlations were sought with Spearman's correlation coefficient. RESULTS: All subjects were independent ambulators, and no statistically significant differences were seen in walking velocity and stride length. However, in all patients, toe-off occurred earlier (at 58% +/- 1.82% of stride length) than controls (at 65.5% +/- 0.52%; P <.05). On kinetics, all patients exhibited, on both limbs, a significant reduction of hip extensory moment (-0.11 +/- 0.11 left; -0.16 +/- 0.15 right v 1.19 +/- 0.08 Newtonmeter/kg; P <.05) and of ankle dorsi/plantar moment (-0.07 +/- 0.09 right; -0.08 +/- 0.16 v -0.15 +/- 0.05 Nm/kg, p < 0.05). Knee power was also significantly reduced (0.44 +/- 0.55 right, 0.63 +/- 0.45 left v 0.04 +/- 0.05 W/kg), whereas ankle power was increased (3 +/- 1.5 right; 2.8 +/- 0.9 left v 1.97 +/- 0.2 W/kg; P <.05). No statistically significant correlation was found between tumor size and either muscle power generation or flexory/extensory moments. CONCLUSIONS: Patients operated on for SCT exhibit nearly normal gait patterns. However, this normal pattern is accompanied by abnormal kinetics of some ambulatory muscles, and the extent of these abnormalities appears to be independent of tumor size. A careful follow-up is warranted to verify if such modifications are stable or progress over the years, thereby impairing ambulatory potential or leading to early arthrosis.