Megacystis-microcolon-intestinal hypoperistalsis syndrome: don't forget the bladder.

PURPOSE: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a well described clinical condition, but reports are focused on microcolon and intestinal hypoperistalsis, while data on bladder management are scant. Aim of the study is to present urological concerns in MMIHS. METHODS: Retrospective evaluation of clinical data on urological management of MMIHS patients treated in the last 10 years. RESULTS: Six patients were enrolled (3 male, 3 female). Three girls had prenatal diagnosis of megacystis (1 vesicoamniotic shunt was placed). All patients had genetic diagnosis: 5 had ACTG2 gene mutations and 1 MYH11 mutation. All patients were addressed to our attention for urinary symptoms, such as urinary retention, urinary tract infections, acute renal injury. Two patients presented frequent stoma prolapses. All children underwent a complete urological evaluation, and then started a bladder management protocol (clean intermittent catheterization, via urethra or cystostomy-tube placement), with improvement of urinary infections, upper urinary tract dilation and stoma prolapses, if present. All patients had good renal function at last follow-up. CONCLUSION: We believe that MMIHS patients must be addressed soon and before onset of symptoms for a multidisciplinary evaluation, including an early assessment by a pediatric urologist expert in functional disorder, to preserve renal function at its best.

Hypospadias management in children with anorectal malformation: a multidisciplinary single center experience.

Anorectal malformation (ARM) is often associated to other congenital malformations, requiring a tailored management. Hypospadias' treatment in ARM is poorly described. Aim of study is to describe our experience in ARM-hypospadias patients especially in relation to occult spinal dysraphism (OSD). ARM patients treated from 1999 to 2022 were retrospectively reviewed, selecting male with hypospadias. Clinical data, hypospadias's severity, ARM sub-type (Group A: perineal fistula; Group B: urethral fistula, bladder fistula, no fistula), OSD, other associated malformations, NLUTD were evaluated. Exclusion criteria: uncomplete data. Among 395 ARMs, 222 were males, 22 (10%) had hypospadias. Two patients were excluded. Group A: 8 patients, Group-B: 12. Hypospadias: proximal 9 patients, distal 11. Neuro-urological evaluation was performed before hypospadias repair. Eleven patients (55%) had OSD. Four OSD patients presented NLUTD and underwent detethering and CIC (two via cystostomy button, two via appendicostomy); two of them had hypospadias repaired. All proximal hypospadias underwent two stages of surgery. Distal hypospadias was corrected in 4/11 cases. Hypospadias is quite common in ARM patients and its surgical management must be scheduled considering the possible OSD and NLUTD, with the possible need for intermittent catheterization. Complexity of ARM and hypospadias appears to be related to each other.

Clonal Spread of Hospital-Acquired NDM-1-Producing Klebsiella pneumoniae and Escherichia coli in an Italian Neonatal Surgery Unit: A Retrospective Study.

This article reports a rapid and unexpected spread of colonization cases of NDM-1 carbapenemase-producing Klebsiella pneumoniae and Escherichia coli in a neonatal surgical unit (NSU) at Bambino Gesù Children's Hospital in Rome, Italy. Between the 16th of November 2020 and the 18th of January 2021, a total of 20 NDM-1 carbapenemase-producing K. pneumoniae (n = 8) and E. coli (n = 12) were isolated from 17 out of 230 stool samples collected from neonates admitted in the aforementioned ward and time period by an active surveillance culture program routinely in place to monitor the prevalence of colonization/infection with multidrug-resistant Gram-negative microorganisms. All strains were characterized by antimicrobial susceptibility testing, detection of resistance determinants, PCR-based replicon typing (PBRT) and multilocus-sequence typing (MLST). All isolates were highly resistant to most of the tested antibiotics, and molecular characterization revealed that all of them harbored the blaNDM-1 gene. Overall, IncA/C was the most common Inc group (n = 20/20), followed by IncFIA (n = 17/20), IncFIIK (n = 14/20) and IncFII (n = 11/20). MLST analysis was performed on all 20 carbapenemase-producing Enterobacterales (CPE) strains, revealing three different Sequence Types (STs) among E. coli isolates, with the prevalence of ST131 (n = 10/12; 83%). Additionally, among the 8 K. pneumoniae strains we found 2 STs with the prevalence of ST37 (n = 7/8; 87.5%). Although patient results were positive for CPE colonization during their hospital stay, infection control interventions prevented their dissemination in the ward and no cases of infection were recorded in the same time period.

Anorectal malformations (ARM) and VACTERL association and severity of congenital heart diseases (CHD): Experience of 396 consecutive patients in a tertiary center.

OBJECTIVE: Congenital heart diseases (CHD) are the most frequently associated anomalies with anorectal malformations (ARM). Nevertheless, many specific aspects of CHD in ARM patients have yet to be studied. The aims of this study were to evaluate the prevalence and distribution of CHD in neonates-infants with ARM, and to explore whether the severity of ARM, and the presence of VACTERL association, had an impact on CHD rate, severity, and timing at first cardiac surgery. STUDY DESIGN: All consecutive newborn-infants with ARM managed in our tertiary center (January-1999; December-2021) were collected from a prospective database and retrospectively analyzed. Prevalence and distribution of CHD in ARM patients were assessed. Patients were divided into groups depending on ARM severity and presence of VACTERL association. Pairwise comparison for CHD prevalence, severity, and timing at first cardiac surgery was performed between groups. RESULTS: Of 396 ARM patients identified, those with severe ARM showed a higher number of overall CHD compared to patients with non-severe ARM (36.7 % vs. 25.2 %, p = 0.032). VACTERL + patients had a significantly higher prevalence of CHD (73.4 % vs. 16.4 %; p <0.001) and major CHD (51.7 % vs. 26.9 %; p = 0.008) when compared with VACTERL-patients. Furthermore, VACTERL + patients underwent first cardiac surgery at a significantly younger age than VACTERL-patients (5.2 ± 15.2 months vs. 11.9 ± 6.3, p = 0.039). CONCLUSIONS: Patients with severe ARM had a higher number of CHD compared to patients with non-severe ARM. VATERL + patients had significantly more CHD and more severe CHD than VACTERL-patients. Early screening for CHD is strongly recommended in all newborns diagnosed with ARM before surgery. LEVEL OF EVIDENCE: III retrospective comparative study.

Continence management in children with severe caudal regression syndrome: role of multidisciplinary team and long-term follow-up.

PURPOSE: Caudal regression syndrome (CRS) is a rare congenital abnormality including orthopedic deformities, urological, anorectal, and cardiac malformations. The clinical spectrum of CRS varies in severity, therefore multiple surgeries and complex medical care may be required with the efforts and support of a multidisciplinary team to ensure the most accurate treatment and the best outcome. The aim of our retrospective study was to evaluate the role of a multidisciplinary treatment and the long-term outcome in patients with severe CRS. METHODS: Clinical, surgical and psychological data were collected for all patients with diagnosis of CRS, treated at our Pediatric Hospital from January 1995 to December 2020. Patients with a severe form of CRS according to Pang's classification were included in the study. All patients have been followed by a multidisciplinary team composed by urologists, neurosurgeons, neonatal and digestive surgeons, orthopedic surgeon, physiatrists and psychologists. On admission, patients were screened for CRS with sacrum, spine and legs X-ray, spine MRI, renal ultrasound, voiding cystography and urodynamic, and renography. Clinical data about bowel function were evaluated. RESULTS: During the study period, 55 patients with CRS were treated at our Institution. Six out of 55 (10.9%), presented with severe form of CRS (5 pts with type 1; 1 pt, with type 2) and represent our study group. Diagnosis of severe CRS was made at birth because of the typical deformities of the pelvis (fusion of the iliac wings), and of the lower extremities (undeveloped legs with flexion of the knees, clubfoot). All patients presented with neurogenic bladder, 4/6 (66.6%) with vesicoureteral reflux (VUR) and 2/6 (33.3%) with renal agenesia and contralateral ectopic hypoplastic kidney. Bowel symptoms occurred in 5/6 pts (83.3%). All patients were started with an earlier clean intermittent catheterization (CIC) regimen. In 3 patients oxybutynin has been effective or well tolerated, while in other 3 onabotulinumtoxin A has been used. Vesicoureteral reimplantation has been performed in 1 patient, 2 required endoscopic treatment of VUR. On long-term, 2 patients required bladder augmentation with ileum and appendicostomy (Mitrofanoff). Low adherences in CIC have been observed in three patients, mainly at puberty. Two patients presented with chronic renal failure. One patient reported suicide proposal. Regarding social life, only one is regularly performing sport activity. CONCLUSION: CRS is characterized by maldevelopment of the caudal half of the body with variable involvement of the gastrointestinal, genitourinary, skeletal, and nervous systems. Management of CRS includes a wide variety of interventions to address the full spectrum of possible anatomical abnormalities. Hence, a multidisciplinary team is also mandatory for a correct bladder and bowel management, in order to maintain continence and preserve renal function, improve quality of life and increase self-esteem.

Anorectal malformation, urethral duplication, occult spinal dysraphism (ARM-UD-OSD): a challenging uncommon association.

PURPOSE: Urethral duplication (UD) is a rare malformation, which can be associated with other anomalies, like anorectal malformations (ARM). ARM has been described with occult spinal dysraphism (OSD). No ARM-UD-OSD combination has been reported. AIM: To share our experience and to discuss the management of ARM-UD-OSD association. METHODS: We retrospectively reviewed records of five boys with UD. Four of these had ARM-UD-OSD association. ARM was the first diagnosis in all; OSD and UD was detected during screening for associated malformation. RESULTS: All patients underwent ARM correction, 3 after colostomy. All reached fecal continence, 3 are performing bowel management. Three patients underwent UD surgical correction. Because of symptoms' worsening, 2 children had detethering surgery. At a mean follow-up of 9.5 years, all patients have normal renal function, 3 are on clean intermittent catheterization (CIC) for neurogenic bladder (1 has a cystostomy, another one an appendicostomy). CONCLUSIONS: UD and OSD should be considered in patients with ARM. Children with these conditions associated must be centralized in a third-level Center and management carefully planned; in particular, urethral reconstruction should be weighed, considering CIC could be required. Suspicion of neurogenic bladder must be present in OSD patient.

Prevalence and Molecular Typing of Carbapenemase-Producing Enterobacterales among Newborn Patients in Italy.

The spread of carbapenemase-producing Enterobacterales (CPE), especially Klebsiella pneumoniae (K. pneumoniae) and Escherichia coli (E. coli), is a serious public health threat in pediatric hospitals. The associated risk in newborns is due to their underdeveloped immune system and limited treatment options. The aim was to estimate the prevalence and circulation of CPE among the neonatal intensive units of a major pediatric hospital in Italy and to investigate their molecular features. A total of 124 CPE were isolated from rectal swabs of 99 newborn patients at Bambino Gesù Children's Hospital between July 2016 and December 2019. All strains were characterized by antimicrobial susceptibility testing, detection of resistance genes, and PCR-based replicon typing (PBRT). One strain for each PBRT profile of K. pneumoniae or E. coli was characterized by multilocus-sequence typing (MLST). Interestingly, the majority of strains were multidrug-resistant and carried the blaNDM gene. A large part was characterized by a multireplicon status, and FII, A/C, FIA (15%) was the predominant. Despite the limited size of collection, MLST analysis revealed a high number of Sequence Types (STs): 14 STs among 28 K. pneumoniae and 8 STs among 11 E. coli, with the prevalence of the well-known clones ST307 and ST131, respectively. This issue indicated that some strains shared the same circulating clone. We identified a novel, so far never described, ST named ST10555, found in one E. coli strain. Our investigation showed a high heterogeneity of CPE circulating among neonatal units, confirming the need to monitor their dissemination in the hospital also through molecular methods.

Urological Impact of Epididymo-orchitis in Patients with Anorectal Malformation: An ARM-Net Consortium Study.

INTRODUCTION: To investigate the current experience of the ARM-Net Consortium in the management of epididymo-orchitis (EO) in patients with anorectal malformations (ARMs), and to identify specific risk factors and the need for urological care involvement. MATERIALS AND METHODS: We retrospectively collected data of EO in patients with ARM between 2015 and 2019. Data on urological aspects, ARM type, surgical approach, associated anomalies, diagnosis, and treatment of EO were collected and analyzed. RESULTS: Twenty-nine patients were reported by 12 centers. Twenty-six patients with EO (90%) had ARM with a rectourinary fistula. Median age at first EO was 2 years (range: 15 days-27 years). Twenty patients (69%) experienced multiple EO, and 60% of recurrences were ipsilateral. Associated urological anomalies included vesicoureteral reflux (48%), urethral anomalies (41%), neurogenic bladder (41%), and ectopic vas (10%). A positive urine culture during EO was present in 69%. EO was treated with antibiotics (90%), limiting surgical exploration to 14%. Prevention of recurrences included surgery (bulking agents 15%, vasectomy 15%, and orchiectomy 5%) and antibiotic prophylaxis (20%). CONCLUSION: Urologists may encounter patients with EO in ARM patients, frequently with positive urine culture. An appropriate urologic work-up for most ARM patients is necessary to identify and treat underlying risk factors. A practical scheme for the work-up is suggested for a close collaboration between pediatric surgeons and urologists.

Assisted Reproductive Technology and Anorectal Malformation: A Single-Center Experience.

Background: Assisted reproductive technologies (ART) are becoming widespread, accounting for approximately 2% of all births in the western countries. Concerns exist on the potential association of ART with congenital anomalies. Few studies have addressed if a relationship exists between ART and the development of anorectal malformation (ARM). Our aim was to analyze the relationship between ARM and ART. Methods: Single-center retrospective case control study of all patients treated for ARM between 2010 and 2017. Patients with bronchiolitis treated since 2014 were used as controls. Variables analyzed include the following: prevalence of ART, gestational age, birth weight, and maternal age. Patients with ARM born after ART were also compared with those naturally conceived for disease complexity. Fisher's exact and Mann-Whitney U-tests were used as appropriate. Results: Three hundred sixty-nine patients were analyzed (143 cases and 226 controls). Prevalence of ART was significantly higher in ARM patients than in controls [7.6 vs. 3.0%; odds ratio: 2.59 (95% CI, 0.98-0.68); p = 0.05]. Among ARM patients, incidence of VACTERL association (17%) is more frequent in ART babies. Conclusion: Patients with ARM were more likely to be conceived following ART as compared with controls without congenital anomalies. Disease complexity of patients with ARM born after ART seems greater that those born after nonassisted conception.

Predictive value of spinal bone anomalies for spinal cord abnormalities in patients with anorectal malformations.

AIM: To evaluate the correlation between sacral/vertebral anomalies and spinal cord anomalies (SCA) on MRI, in patients with anorectal malformation (ARM). METHODS: Patients with ARM consecutively treated between January 1999 and August 2019 were included. Radiological imaging of sacrum and spine were retrospectively analyzed and correlated to the presence of SCA at MRI. Fisher's exact test and X2 test were used as appropriate; p<0.05 was considered statistically significant. RESULTS: 348 patients with ARM were enrolled in the study, 147 presented SCA at MRI. 144 patients showed spinal bone anomalies, isolated vertebral and sacral anomalies were found in 17,6% and 35% respectively. Higher level of ARM was associated with a significant higher prevalence of sacral and vertebral anomalies. A significant correlation was found between the "level" of ARM and the presence of SCA (p<0.05). Sacral anomalies were significantly correlated with the presence of SCA at MRI (p<0.05). SCA were found in 70% of patients with vertebral anomalies (VA) and in 76% of patients with sacral anomalies. The presence of multiple malformations (vertebral and sacral anomalies) are strictly related to the presence of SCA. However, the absence of spinal bone anomalies does not exclude the presence of SCA. SD was the most represented type of SCA (n=94/147), of those 96% had fatty filum. Neurological or neurourological symptoms were detected in 11,5% patients (n=17) with SCA and required neurosurgical intervention. CONCLUSIONS: Our data confirm the strong relation between sacral or vertebral anomalies and SCA. However, in our series also patients without sacral/vertebral anomalies had SCA at MRI. Our results suggest that, despite the presence or absence of spinal anomalies, spinal cord MRI should be performed in all children with ARM, to allow a correct multidisciplinary follow-up and treatment. In fact, most patients with spinal bone and SCA are asymptomatic, but could develop clinical manifestations during their growth.

Transanal irrigation (TAI) in the paediatric population: Literature review and consensus of an Italian multicentre working group.

Constipation and fecal incontinence in pediatric patients are conditions due to either functional or organic bowel dysfunction and may represent a challenging situation both for parents, pediatricians, and pediatric surgeons. Different treatments have been proposed throughout the past decades with partial and alternant results and, among all proposed techniques, in the adult population the Transanal Irrigation (TAI) has become popular. However, little is known about its efficacy in children. Therefore, a group of Italian pediatric surgeons from different centers, all experts in bowel management, performed a literature review and discussed the best-practice for the use of TAI in the pediatric population. This article suggests some tips, such as the careful patients' selection, a structured training with expert in pediatric colorectal diseases, and a continuous follow-up, that are considered crucial for the full success of treatment.

Variations in the Detection of Anorectal Anomalies at Birth among European Cities.

INTRODUCTION: The diagnosis of anorectal malformations (ARMs) is made at birth by perineal examination of the newborn, yet small series reported late diagnosis in almost 13%. No large series to date have looked into the magnitude of missed ARM cases in the neonatal period across Europe. This study aimed to define the rate of missed ARM at birth across four United Kingdom and European Union centers. MATERIALS AND METHODS: All ARM cases treated at two United Kingdom tertiary centers in the past 15 years were compared with two tertiary European centers. Demographic and relevant clinical data were collected. Late diagnosis was defined as any diagnosis made after discharge from the birth unit. Factors associated with late diagnosis were explored with descriptive statistics. RESULTS: Across the four centers, 117/1,350, 8.7% were sent home from the birth unit without recognizing the anorectal anomaly. Missed cases showed a slight female predominance (1.3:1), and the majority (113/117, 96.5%) were of the low anomaly with a fistula to the perineum. The rate of missed ARM cases was significantly higher in the United Kingdom centers combined (74/415, 17.8%) compared with those in the European Union (43/935, 4.6%) (p < 0.00001), and this was independent of individual center and year of birth. CONCLUSION: Significant variation exists between the United Kingdom and other European countries in the detection of ARM at birth. We recommend raising the awareness of accurate perineal examination at the time of newborn physical examination. We feel this highlights an urgent need for a national initiative to assess and address the timely diagnosis of ARM in the United Kingdom.

Minimally Invasive Techniques for Hirschsprung Disease.

Background: Surgical treatment of Hirschsprung disease (HD) evolved in the last decades with the introduction of new innovative minimally invasive techniques. The aim of present study is to compare the results from two centers, applying similar minimal access approaches, total transanal endorectal pull-through (TEPT) and laparoscopic-assisted transanal pull-through (LA-TAPT). Materials and Methods: Data of all patients admitted between January 2011 and December 2016 in two Italian referral Hospitals for HD were retrospectively collected and analyzed. Exclusion criteria were as follows: redo procedure, patients with total colonic aganglionosis (ileostomy), patients lost at follow-up, or missing data. Patients who underwent TEPT and LA-TAPT were compared for gestational age, birth weight, age and weight at surgery, associated malformation, genetic syndrome, length of hospital stay, and early postoperative complications (within 30 days). Statistical analysis: Fisher's test and Mann-Whitney test; statistical significance set at P < .05. Results: None of the patients who underwent TEPT required laparotomy or laparoscopic assistance. Patients who underwent TEPT had lower age (P = .001), lower body weight (P < .0001), a significant higher rate of associated congenital heart disease (P = .006), and longer postoperative stay. In addition, the prevalence of perianal dermatitis was higher in TEPT patients (17/61 [28%] versus 2/46 [4%], P = .001). The two groups were similar in terms of postoperative enterocolitis, redo surgery, anastomotic stenosis, and other infective complications. Conclusion: Both minimally invasive techniques allow surgical advantages and outcomes; TEPT avoids pneumoperitoneum and the transperitoneal approach, with no need for laparoscopic instrumentation. TEPT group had longer postoperative stay, probably due to the higher prevalence of associated cardiac anomalies, and higher prevalence of perianal dermatitis, probably due to the lower age at operation.

Impact of the associated anorectal malformation on the outcome of spinal dysraphism after untethering surgery.

PURPOSE: To analyze the outcome after untethering surgery in patients with spinal dysraphism (SD), with or without associated anorectal malformation (ARM). METHODS: Patients operated on for SD, with (Group A) or without (Group B) associated ARM (1999-2015), were included. The post-operative outcome was analyzed in the two groups in terms of improving of clinical symptoms (neuro-motor deficits, bladder dysfunction, bowel dysfunction) and of instrumental examinations (urodynamics, bladder ultrasound, neurophysiology). Fisher's exact test and χ2 test were used as appropriate; p < 0.05 was considered statistically significant. MAIN RESULTS: Ten patients in Group A and 24 in Group B were consecutively treated. One patient was lost at follow up. Six patients (25%) in Group B underwent prophylactic surgery. The analysis of the pre-operative symptoms in the two groups showed that a significantly higher number of patients in group A needed bowel management and presented with neuro-motor deficits, compared to group B (p = 0.0035 and p = 0.04, respectively). Group A showed a significant post-operative neuro-motor improvement as compared to group B (p = 0.002). CONCLUSIONS: Based on our results, untethering seems to be effective in neuro-motor symptoms in selected patients with ARM. In ARM patients, untethering surgery does not seem to benefit intestinal and urinary symptoms. The presence of the associated ARM does not seem to impact the medium-term outcome of patients operated for SD.

Anorectal malformations associated spinal cord anomalies.

PURPOSE: The present study aims to identify clinical and pathological factors that can predict the risk of spinal cord anomalies (SCA) in patients with anorectal malformations (ARM), the need for neurosurgery, and to define the impact of SCA on the outcome of patients with ARM. METHODS: A 16-year retrospective analysis of all patients treated at a single tertiary children's Hospital with diagnosis of ARM. Data were collected to assess the impact of defined clinical characteristics on prevalence of SCA (detected at MRI). Children surgically treated or not for SCA were compared for age, clinical symptoms and type of anomalies at surgery or at last follow-up, respectively. Moreover, patients with intermediate/high ARMs, with or without SCA were compared for neurogenic bladder (NB), constipation, soiling and need for bowel management (BM). RESULTS: Two hundred and seventy-five children were treated for ARM in the study period, 142 had spinal MRI that showed SCA in 85. Patients with SCA had significantly higher prevalence of preterm birth (p < 0.05), cardiac anomalies (p = 0.02), vertebral anomalies (p = 0.0075), abnormal sacrum (p < 0.0001), and VACTERL association (p = 0.0233). Ten patients were surgically treated for SCA. The prevalence of neurological bladder and neuro-motor deficits, of vertebral and genital anomalies, particularly cryptorchidism, was significantly higher in the operated group (p < 0.01, for each analysis). In patients with intermediate/high ARMs, no significant difference was observed between those with or without SCA, in terms of prevalence of NB, intestinal function and need for BM. CONCLUSIONS: In patients with ARM, factors that can predict a higher prevalence of SCA and also determine an increased indication to neurosurgery may be identified. SCA by itself does not seem to affect the functional prognosis of children with intermediate/high ARM. These data may help physicians in stratifying the clinical and diagnostic pathway of patients with ARM.

VACTERL association in anorectal malformation: effect on the outcome.

PURPOSE: Anorectal malformations (ARM) can commonly occur in association with other congenital anomalies or as part of the combined anomaly. The present study aims to assess the outcome of patients with ARM and patients with ARM in VACTERL association. METHODS: A 12-year retrospective analysis of all patients treated at a single tertiary children's institution with a diagnosis of ARM. We identified and compared patients with ARM to those with ARM in VACTERL association (3 or more anomalies). Data were collected for both groups to assess type of ARM, urinary incontinence (UI), constipation, soiling, dietary/laxative treatment, bowel management (BM) and surgical complications. Type of lesion and clinical outcomes were classified according to Krickenbeck International classification. Patients lost to follow-up, dead or not yet toilet-trained (or <4 years old) were excluded. RESULTS: One hundred ninety-eight patients were identified, 174 enrolled in the study. Lesions were classified for each study group (VACTERL- vs VACTERL+) as perineal fistulas (36.4 vs 9.7%, p = 0.0028), rectourethral fistulas (prostatic and bulbar) (23.1 vs 38.7%, p = ns), rectovesical fistulas (3.5 vs 9.7%, p = ns), rectovestibular fistulas (19.6 vs 22.6%, p = ns), cloacal malformations (4.9 vs 9.7%, p = ns), no fistula (4.9 vs 3.2%, p=), others (7.7 vs 6.4%, p = ns). The frequency of both dietary/laxative treatment and BM, as well as surgical complications were significantly higher in patients with VACTERL. CONCLUSIONS: The coexistence of VACTERL anomalies negatively affects not only the surgical outcome but also the bowel functioning. Therefore, a dedicated follow-up is strongly recommended. Further studies are needed to assess if this has an impact on the quality of life of these patients.

What else is hiding behind superior mesenteric artery syndrome?

The superior mesenteric artery syndrome (SMAS) is an uncommon condition in children. We describe a case of a 7-year-old boy with SMAS that occurred 3 years after a Deloyers' procedure for subtotal colonic Hirschsprung who was admitted for bilious vomit, abdominal pain and diarrhea due to unrecognized celiac disease. This case emphasize that SMAS in children needs a close medical and surgical follow-up to avoid an underestimation of early clinical signs unrelated to surgery.

Spinal ultrasound in patients with anorectal malformations: is this the end of an era?

PURPOSE: Even if lumbar magnetic resonance imaging (MRI) is considered the gold standard in the diagnosis of occult spinal dysraphism (SD) in patients with anorectal malformations (ARMs), spinal ultrasound (US) performed up to 5 months of life have been largely used as a screening test. The aim of the present study was to evaluate the accuracy in terms of sensibility and specificity of neonatal US to detect occult SD in patients with ARMs. METHODS: Retrospective analysis of all patients treated for ARMs between 1999 and 2013 at our institution who underwent both spinal US (up to 5 months of life) and MRI. Sensibility and specificity have been calculated for US based on MRI results. RESULTS: Of 244 patients treated for ARMs at our institution, 82 (34 females, 48 males) underwent both the imaging studies and have been included in this study. ARMs types were: anal stenosis (7), recto-vestibular fistula (19), recto-perineal fistula (3) and cloaca (5) in female and imperforate anus (7) recto-perineal fistula (14), recto-urethral fistula (22), recto-vesical fistula (5) in males. Forty-seven patients (57, 3 % of total, 18 females, 29 males) had some occult SD (tethered spinal cord, spinal lipoma, syringomyelia) at MRI. Only 7 (14, 8 %) patients of those with spinal anomalies at MRI had pathological US studies. In our population, sensibility and specificity of US for diagnosis of occult SD were, respectively, 14, 8 and 100 %. CONCLUSION: Since it is well known that a screening test must have a high sensibility, our data suggest that spinal ultrasound is not suitable as a screening test for occult spinal dysraphism in patients with ARMs. Furthermore, we strongly advise against the use of US as a screening test for spinal dysraphism to prevent a false sense of security in physician and patients' families.

Long term follow-up in high-risk congenital diaphragmatic hernia survivors: patching the diaphragm affects the outcome.

BACKGROUND/PURPOSE: The increased survival rate reached in infants with congenital diaphragmatic hernia (CDH) has shown a concomitant increase in late morbidity. A recent report from CDH Study Group showed that dimension of diaphragmatic defect is the only independent risk factor of mortality. However, the influence of defect size on late morbidity is still controversial. The aim of the study was to evaluate the influence of patch repair (proxy of diaphragmatic defects size) on midterm morbidity. METHODS: All high-risk (prenatal diagnosis and/or respiratory symptoms within 6 hours of life) CDH survivors treated at our institution from 2004 to 2008 were followed up in a multidisciplinary outpatient clinic as part of a longitudinal prospective study. Auxological, gastroesophageal, pulmonary, and orthopedic evaluations were performed at 6, 12, and 24 months of age. Patient outcomes were compared with respect to +/- patch repair. RESULTS: Of 70 survivors, 61 (87%) were enrolled and prospectively evaluated in follow-up. Poorer auxological outcome, increased rate of gastroesophageal reflux, and altered pulmonary function test were observed during follow-up. CONCLUSIONS: Patch repair correlates with higher pulmonary, auxological, and gastroesophageal morbidity without increasing chest wall deformities at long-term follow-up.