Giulia Brisighelli

Peristeen(®) transanal irrigation in paediatric patients with anorectal malformations and spinal cord lesions: a multicentre Italian study.

In paediatric and adult patients with neurogenic bowel, transanal irrigation (TAI) of the colon has gained popularity due to the introduction of a specifically designed device. The aim of this pilot study was to present the results of TAI using the Peristeen® TAI system in a group of paediatric patients with anorectal malformation (ARM) and congenital or acquired spinal cord lesions (SCLs).

Anorectal malformations with good prognosis: Variables affecting the functional outcome

BACKGROUND/PURPOSE The purpose of this study was to investigate the outcome of patients operated for anorectal malformations (ARMs) with good prognosis. METHODS Thirty patients underwent clinical evaluation by Rintala score and anorectal manometry recording anal resting pressure (ARP), rectoanal inhibitory reflex (RAIR), and rectal volume (RV). The results were analysed with regard to sex, type of ARM, surgical timing of posterior sagittal anorectoplasty (PSARP), neurospinal cord dysraphism (ND), neonatal colostomy, and institution where they underwent surgery. RESULTS 6/30 (20%) presented ND despite normal sacrum. 17/30 (57%) patients had a normal Rintala score. ND and neonatal colostomy were significantly associated with a pathologic score (p=0.0029 and p=0.0016). Patients with ND had significantly lower ARP compared to patients with normal spine (23.5±7.2mmHg vs 32±7.9mmHg, p=0.023). ARP was significantly lower in patients with neonatal colostomy compared to patients with primary repair (25.22±10.24mmHg vs 32.57±6.68mmHg, p=0.026). RAIR was present in only 2/6 (33%) patients with ND, while in 21/24 (87.5%) without ND (p=0.015) and in 4/9 (44%) patients with neonatal colostomy, while in 19/21 (90.5%) patients submitted to primary repair (p=0.014). CONCLUSIONS Neurospinal cord dysraphism may be present despite normal sacral ratio. From a clinical point of view, patients with good prognosis ARMs are not completely comparable to healthy children. Neurospinal cord dysraphism and neonatal colostomy seem to worsen the clinical and manometric (ARP and RAIR) outcomes of these patients.

Multicenter retrospective study on management and outcome of newborns affected by surgical necrotizing enterocolitis

BACKGROUND Necrotizing enterocolitis (NEC) is the most common surgical emergency in newborns and it is still a leading cause of death despite the improvements reached in the management of the critically ill neonate. The purpose of this study was to evaluate risk factors, surgical treatments and outcome of surgical NEC. METHODS We retrospectively evaluated a multicentric group of 184 patients with surgical NEC over a period of 5 years (2008-2012). Indications to operation were modified NEC Bell stages IIIA or IIIB. The main outcome was measured in terms of survival and postsurgical complications. RESULTS Data on 184 patients who had a surgical NEC were collected. The majority of patients (153) had a primary laparotomy (83%); 10 patients had peritoneal drainage insertion alone (5%) and 21 patients had peritoneal drainage followed by laparotomy (12%). Overall mortality was 28%. Patients with lower gestational age (P=0.001), lower birth weight (P=0.001), more extensive intestinal involvement (P=0.002) and cardiac diseases (P=0.012) had a significantly higher incidence of mortality. There was no statistically significant association between free abdominal air on the X-ray and mortality (P=0.407). Mortality in the drainage group was 60%, in the laparotomy group and drainage followed by laparotomy group was of 23-24% (P=0.043). There was a high incidence of stenosis (28%) in the drainage group (P=0.002). On multivariable regression, lower birth weight, feeding, bradycardia-desaturation and extent of bowel involvement were independent predictors of mortality. CONCLUSIONS Laparotomy was the most frequent method of treatment (83%). Primary laparotomy and drainage with laparotomy groups had similar mortalities (23-24%), while the drainage alone treatment cohort was associated with the highest mortality (60%) with statistical value (P=0.043). Consequently laparotomy is highly protective in terms of survival rate. Stenosis seemed to be statistically associated with drainage. These findings could discourage the use of peritoneal drainage versus a primary laparotomy whenever the clinical conditions of patients allow this procedure.

Transition of care in patients with anorectal malformations: Consensus by the ARM-net consortium

OBJECTIVES To develop the first consensus to standardize the management of patients with Anorectal Malformations (ARMs) transitioning from childhood to adulthood. METHODS A dedicated task force of experts performed an extensive literature review and multiple meetings to define the most important aspects of transition of care. The findings were discussed with all ARM-net consortium members and a set of practical recommendations agreed upon at the annual meeting in 2016. RESULT We defined seven domains that are essential to provide an effective and practical transition process. Within each domain we have developed a set of key recommendations that are important to be considered for ARM patients entering the age of transition. CONCLUSIONS It is crucial that transition begins at an early age with regular and well-structured follow-up. Cooperation with a selected multidisciplinary team of pediatric and adult practitioners is required to prepare patients and families for effective transition to adult care and to reduce long term morbidity. TYPE OF STUDY Review/Consensus paper. LEVEL OF EVIDENCE III.

Surgical Management of Functional Constipation: Preliminary Report of a New Approach Using a Laparoscopic Sigmoid Resection Combined with a Malone Appendicostomy

Introduction Functional constipation is a common problem in children. It usually can be managed with laxatives but a small subset of patients develop intolerable cramps and need to be temporarily treated with enemas. The senior author has previously reported: 1) open sigmoid resection as a surgical option, but this did not sufficiently reduce the laxative need, then 2) a transanal approach (with resection of rectosigmoid), but this led to a high rate of soiling due to extensive stretching of the anal canal and loss of the rectal reservoir. The understanding of these procedures’ results has led us to use a laparoscopic sigmoid ± left colonic resection with a Malone appendicostomy for these patients, to decrease the laxative requirements, temporarily treat with antegrade flushes, and to reduce postoperative soiling. Methods A single‐institution retrospective review (3/2014‐9/2015) included patients who failed our laxative protocol, and therefore were considered surgical candidates. Patients with anorectal malformation (ARM), Hirschsprung disease, spina bifida, tethered cord, trisomy 21, cerebral palsy, mitochondrial disease, prior colon resection at other facilities, or those that did not participate in our laxative program were excluded. Demographics, duration of symptoms, prior treatments, postoperative complications, and postoperative bowel regimens were evaluated. Results A total of 6 patients (3 males; median age of 12.5 years) presented with soiling related to constipation and intolerance to laxatives. Four patients failed preoperative cecostomy (done prior to referral to us). An average of 4.7 medication treatments were previously tried. In all, 4 patients had required in‐patient disimpactions. Duration of symptoms was 7.5 years (median). The median senna dose was 30 mg (range, 15‐150 mg), and all patients had intolerable symptoms or failed to empty their colon, which we considered a failed laxative trial. All had contrast enemas that demonstrated a dilated and/or redundant sigmoid colon, and colonic manometry was abnormal in 4. All patients underwent laparoscopic sigmoid and left colon resection, or only sigmoid resection (a low anterior resection). Two patients had postoperative colitis treated with oral antibiotics. The median follow‐up was 52 days (range, 8‐304 days). Five patients are on antegrade enemas with plans to convert to laxatives at 6 months, 1 is taking laxatives alone at a 33% lower dosage. Five of six are completely clean, 1 soils occasionally and their daily flush is being adjusted. Conclusion Only a minority of patients with functional constipation are medically unmanageable. This preliminary report shows that laparoscopic colon resection combined with antegrade flushes is an effective surgical technique to treat that group. A laparoscopic approach, guided by contrast enema and colonic manometry, allows for a defined resection of the abnormal segment of colon with the advantages of minimally invasive surgery including allowing for an extensive rectal resection (an improvement over open sigmoid resection) and avoidance of overstretching of the anal canal and removal of the rectal reservoir (an improvement over the transanal approach). Having antegrade access is useful to manage soiling and avoiding cramping from laxatives in the early postoperative period. Although our series is small, we believe that long‐term most patients can avoid antegrade flushes and be on no, or a dramatically reduced, laxative dose.

Correlation between magnetic resonance imaging findings after posterior sagittal anorectoplasty for anorectal malformations and the clinical outcome: Preliminary report

BACKGROUND/PURPOSE To assess the anatomical results after posterior sagittal anorectoplasty (PSARP) by magnetic resonance imaging (MRI) and to evaluate the correlation of these findings with clinical outcomes. METHODS Patients followed-up at our center after PSARP, being at least 6year old, with neither evidence of sacral abnormalities nor spinal dysraphisms were prospectively included. Complex ARMs were excluded. MRI was performed on a 1.5T unit. T1- and T2-weighted sequences were acquired, in orthogonal planes, according to the anal canal orientation. The degree of anorectal centering in the muscle complex (DARC), the pelvic floor symmetry, the rectal maximum diameter, the fat tissue interposition, and the presence of fibrosis were evaluated. A clinical questionnaire (Rintala score) was filled in by the parents. MRI findings were compared to the clinical outcomes assessed by the Rintala score. For statistical analysis the Spearman rho correlation coefficient was calculated and the Wilcoxon rank-sum test was performed. RESULTS We recruited 11 patients (mean age 12years, range 6-19) with MRI. DARC (range 252-360°) was strongly correlated with the degree of fecal incontinence (rho=0.70), mildly with the ability to hold back defecation (rho=0.58), constipation (rho=0.46) and total Rintala score (rho=0.41). Pelvic floor symmetry correlated with the frequency of defecation (rho=0.58). Rectal maximum diameter negatively correlated with the ability to feel the urge to defecate (rho=-0.60). Patients with fibrosis were slightly more constipated (p=0.056) and presented more social impairment (p=0.04). Fat tissue interposition had no correlation with the clinical outcome. CONCLUSIONS Thanks to soft tissue definition, multiplanar imaging, and lack of ionizing radiation, MRI is a valuable tool in the postoperative anatomical evaluation of patients with ARM. Our preliminary results show that abnormal anatomical findings can correlate to a nonoptimal functional outcome, thus helping in understanding the clinical course. The degree of anorectal centering in the muscle complex (DARC) seems to have the better correlation with the outcome, especially in terms of fecal continence. TYPE OF STUDY Prognosis study. LEVEL OF EVIDENCE level IV.

Comparison in the incidence of anorectal malformations between a first- and third-world referral center

PurposeAim of study was to evaluate the differences in incidence and presentation of anorectal malformations (ARMs) between selected Pediatric Surgery Divisions in the Republic of South Africa (ZAR) and Italy.MethodsA retrospective cohort study involved analysis of clinical records of patients with ARM born between 2005 and 2012. Type of ARM, maternal age, birth weight, gestational age, presence of associated anomalies and delayed diagnosis were analyzed.Results335 patients were included in this study. Of note, statistically significant differences between the African and European patient groups were observed in a male predominance in the ZAR patient population. In addition, female recto-perineal fistulas were diagnosed in significantly more Italian patients than in ZAR. Furthermore, a more advanced maternal age and a lower gestational age was noted in the European cohort with a minimal delay in initial diagnosis as opposed to the African counterpart. Both centers reported recto-perineal fistula as the most common malformation in male patients.ConclusionWith the exception of perineal fistulas in females, the incidence of specific subtypes of ARMs was similar in the two groups. This may be of importance when extrapolating European study conclusion to the South African setting.

Appendicitis in a 14-month-old infant with respiratory symptoms

Although appendicitis is the condition that most commonly requires emergent abdominal surgery in the paediatric population, less than 2% of the disease occurs in infants and it is even more uncommon in neonates. In this report, we describe a rare case of a 14-month-old child presenting with abdominal pain first diagnosed with upper respiratory tract infection and then admitted to our Paediatric Surgery Department with a final diagnosis of acute appendicitis. A particular attention has to be kept on children presenting with an upper respiratory tract infection since symptoms can mask abdominal signs. Due to high morbidity and mortality rate related to a delayed diagnosis, appendicitis always has to be considered as a possible diagnosis, in order to ensure a prompt treatment.

2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation

2q33 deletions are considered to constitute a distinct clinical entity (Glass syndrome or 2q33 microdeletion syndrome) with a characteristic phenotype. Most patients have moderate to severe developmental delay, speech delay, a particular behavioural phenotype, feeding problems, growth restriction, a typical facial appearance, thin and sparse hair, tooth abnormalities, and skeletal anomalies. Here, we report on a patient with a 2q33.1q34 deletion spanning 8.3 Mb of genomic DNA. Although her clinical features are very reminiscent of the 2q33 microdeletion syndrome, she also presented with brain and anorectal malformations. Based on the present and published patients with 2q33 deletions, we suggest that the critical region for the Glass syndrome may be larger than initially proposed. Moreover, we suggest that brain abnormalities might be an additional feature of the 2q33 microdeletion syndrome, but that anorectal malformation is likely not a key marker.

Duodenal Hematoma and Pancreatitis Complicating Endoscopic Intestinal Biopsy in a Boy with Noonan Syndrome

Duodenal intramural hematoma is a rare condition, mostly described in children and young adults that can be a complication of duodenal biopsy, especially in patients with predisposing hemorrhagic diathesis. It can determine secondary pancreatitis because of ampullary hematoma. Noonan Syndrome (NS) is an autosomal dominant disorder characterized by short stature, typical facial dysmorphisms, congenital heart defects and other anomalies such as bleeding problems which have been reported in up to 55% of patients. We herein report a case of duodenal hematoma with pancreatitis developed after endoscopic biopsy in a boy who was initially suspected of having celiac disease on the base of his short stature and growth retardation. Afterwards a more careful past medical history collection and objective examination revealed characteristic features of NS which could have been picked-up in advance, thus avoiding an investigation, such as the duodenal endoscopic biopsy, which in NS patient is potentially more risky.