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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., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

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 X 2 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., (Copyright © 2021. Published by Elsevier Inc.)

Purpose: Epididymo-orchitis (EO) is infrequently reported in anorectal malformation (ARM) cases. Therefore, it is difficult to assess its risk factors., Methods: A total of 110 male patients who were operated on for ARM at the same Institution over a period of 13 years were contacted. Association was assessed between EO and the following: spinal dysraphism (SD), symptomatic VUR (VUR), and bowel management (BM) requiring enemas. The data were analyzed with the Chi-square test., Results: A total of 89 patients were contacted. Ten cases of EO were found, and all occurred in patients with recto-urethral (RU) fistula after reconstruction. The patients' age at first episode ranged between 4 and 11 years. RU fistula patients experiencing EO (Group A, 10 patients) were compared with those without EO (Group B, 33 patients). VUR occurred in 9/10 cases in Group A and in 13/33 cases in group B (Chi-square 7.8658, p = 0.005038). SD was present in 4/10 cases in group A and in 13/33 cases in Group B (Chi-square 0.0434, p = 0.83491). A total of 8/10 cases in Group A and 12/33 cases in Group B were on BM (Chi-square 5.87, p = 0.0015)., Conclusions: EO occurs in approximately in 20 % of male cases with ARM, and recto-urinary communication and should be considered the primary diagnosis in the presence of testicular pain. This could avoid unnecessary surgical exploration, and the family should be counseled about this subject.

Although most patients with esophageal atresia (EA) and tracheo-esophageal fistula (TEF) may benefit from "standard" management, which is deferred emergency surgery, some may present unexpected elements that change this paradigm. Birth weight, associated anomalies, and long gap can influence the therapeutic schedule of the patients with EA/TEF and can make their treatment tricky. As a consequence, detailed information on these aspects gives the power to develop a decision-making process as correct as possible. In this article, we will review the most important factors influencing the treatment of patients with EA/TEF and will share our experience on the diagnostic and therapeutic tips that may provide pivotal help in the management of such patients., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Purpose: The aim of our study was to elucidate if the defect size reflects the magnitude of the developmental defect in patients with CDH., Methods: All patients recorded in the CDH Study Group registry between January 1, 2007, and December 31, 2010, and with defect classification were included in the study. They were divided according to defect size (A-D) and compared for: gestational age (GA), birth weight (BW), number of abnormal organ systems, prevalence of associated anomalies, cardiovascular malformations (CVM), chromosomal anomalies, liver in the chest, and hernia sac., Results: A total of 1350 of 1778 patients had defect classification: 173 A, 557 B, 438 C, and 182 D. Mortality rate was 0.6%, 5.3%, 22.6%, and 45.6% in group A, B, C, and D, respectively, (p<0.0001; p for trend <0.0001). GA, BW, prevalence of associated anomalies, particularly CVM, number of abnormal organ systems, and prevalence of sac were significantly different between the groups, with a significant reduction of GA, BW, and prevalence of sac. There was an increase in prevalence of associated anomalies, liver in the chest, and number of abnormal systems as the defect size increased., Conclusion: Defect size is directly correlated with mortality rate, prevalence of other anomalies (particularly CVM), and number of abnormal systems, and inversely with GA, BW, and prevalence of hernia sac. The defect size may be a marker for the magnitude of developmental abnormality, thereby explaining its relationship with the outcome., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Congenital diaphragmatic hernia (CDH) has been rarely described in CHARGE syndrome. We report a patient affected by CHARGE syndrome presenting with a right-sided Bochdalek-type diaphragmatic hernia, and collect the pertinent literature. Furthermore, we review the embryogenesis of the diaphragm and the pathogenesis of CDH to highlight if this malformation could be explained by a developmental anomaly of CHARGE. On the basis of our study, we suggest that patients affected by CDH, facial asymmetry and cardiovascular or urogenital malformations, should be actively screened for CHARGE syndrome findings.

The prognosis of extrahepatic biliary atresia (EHBA) and multiple apparently not linked anomalies has never been disclosed. We reported a rare case affected by biliary, anorectal and esophageal atresia, and collected the uncommon associations of EHBA with multiple unrelated congenital defects to make known the prognosis. An elevated rate of hepatic failure despite surgery and an early poor outcome were found in the above-mentioned associations. A liver transplantation at the first months of life could be considered to improve outcome.

Background: Wolf-Hirschhorn syndrome (WHS) is a well-known genetic condition characterized by typical facial anomalies, midline defects, skeletal anomalies, prenatal and postnatal growth retardation, hypotonia, mental retardation, and seizures. Affected patients with a microdeletion on distal 4p present a milder phenotype that lacks congenital malformations. WHS is rarely associated with congenital diaphragmatic hernia (CDH), and only 8 cases are reported in the literature. In almost all cases of CDH and WHS a large deletion of the short arm of chromosome 4 is present., Case: A microdeletion of 2.6 Mb on distal 4p associated with CDH and multiple congenital malformations (i.e., cleft palate) is reported for the first time., Conclusions: Such a microdeletion should prompt a molecular study for WHS when in a fetus/newborn with CDH the association with cleft lip/palate and typical facial appearance (flat facial profile, hypertelorism) is found., (Copyright 2006 Wiley-Liss, Inc.)

A case report of a neonate with pulmonary arteriovenous malformation is described. The anomaly was prenatally diagnosed, and family history was positive for Rendu-Osler-Weber syndrome. Because neurologic symptoms developed during the second week of life, surgical resection was deemed the best curative option to avoid further embolic events and reoccurrence of the lesion. Previous reports detailing coil embolization therapy for pulmonary arteriovenous malformation are discussed.

Spilt notochord syndrome is an extremely rare form of spinal dysraphism characterized by a complete cleft of the spine and a persistent communication between endoderm and ectoderm. A variant of split notochord syndrome was diagnosed in a 25-week-old fetus showing a prolapsed congenital colostomy and a spinal cystic lesion. The final diagnosis included protruding colon segment, imperforate anus with a rectourethral fistula and lipomyelomeningocele. The ultrasound features of the condition and the post-natal management are discussed. The neonate was successfully treated with a posterior sagittal anorectoplasty, while the lipomyelomeningocele was resected at a later stage., (Copyright (c) 2005 John Wiley & Sons, Ltd.)

Background/purpose: Treatment of long gap esophageal atresia (EA) is still a major challenge. Gastric transposition and colon interposition are the 2 most popular choices for esophageal replacement, but there is general agreement that the child's own esophagus is the best. The aim of the study was to critically evaluate the feasibility and outcome of primary repair of long gap EA with or without tracheoesophageal fistula (TEF) by direct esophago-esophageal anastomosis as the only technique., Methods: Seventy-one neonates with EA+/-TEF were considered. Nineteen cases were classified as long gap (> or =3 cm). All infants underwent either primary or shortly delayed repair. In the latter group, a gastrostomy was performed along with an x-ray evaluation of the gap a few days before surgery (mean age, 46.4 days). To avoid disruptive anastomotic force, all infants were kept paralyzed and mechanically ventilated for an additional 6 days after esophageal anastomosis. Before starting feeding, postoperative esophagogram was done on day 7. Endoscopy was done routinely, starting 1 month after surgery; pH monitoring was conventionally performed at 1 year of age or even earlier, should gastroesophageal reflux disease (GERD) be suspected. Follow-up ranged from 11 months to 7 years., Results: In all 19 long gap EA infants an esophago-esophageal anastomosis was performed. Six of them (31%) required an anterior esophageal flap to bridge residual gap. Complications included minor anastomotic leak in 2 cases and anastomotic stricture (<5mm) in 12 (80%) cases, which were treated with an average of 5 dilatations (1 of which with resection of the stricture). GERD occurred in 8 cases (53.3%), of which, 3 required fundoplication. None of the patients had esophageal swallowing difficulties or persistent dysphagia. Two children experienced food aversion. Mean hospital stay was 66.2 (22 to 230) days. There were 4 deaths (very low birth weight, 1; associated anomalies, 1; and late sepsis, 2)., Conclusions: Considering heat gap determination remains imprecise, it seems possible to conclude that in a well-established tertiary care level referral center: (1) long gap EA could be treated successfully with primary repair and anastomosis; (2) strictures and GER represent the most frequent postoperative problem, but additional procedures required seem "acceptable" to maintain the patient's own esophagus and avoid replacement; (3) esophageal substitution in long gap EA should be reserved for cases in which a previous attempt of esophageal reconstruction failed.

Cloacal malformations are rare and can present in variable aspects. The importance of ultrasound in detecting these anomalies is well known. Sonographic features vary in accordance with the type of malformation and the gestational age. A positive diagnosis is not possible because of the lack of specific ultrasound findings, which can show similar aspects to other abnormalities. We present 3 cases of prenatal diagnosis of this malformation, emphasizing that in the presence of a plurilobed cystic pelvic fetal mass with associated malformations, such as cardiac, renal, and vertebral anomalies, a persistent cloaca can reasonably be suspected.