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This article discusses a case of saccular limited dorsal myeloschisis (LDM), a type of closed dysraphism (CD) in which the patient experienced sudden signs of Chiari-II malformation due to cyst rupture during pregnancy. Fetal surgery was performed to repair the cyst and protect the neural tissue. The surgery involved a three-layer reconstruction and was successful in reversing the changes associated with Chiari-II malformation. This case highlights the importance of close monitoring for CD patients and the potential benefits of prenatal repair. [Extracted from the article]

Background: The concept of family quality of life has emerged as a decisive construct in the last decades to improve the capabilities of families and to assess the outcomes of the services and supports they get. The goal of this research is to adapt three instruments to the Spanish population: the "Beach Center Family Quality of Life Scale", the "Beach Center Family-Professional Partnership Scale" and the "Service Inventory". These tools were originally designed by researchers from the Beach Center on Disability, University of Kansas, in order to obtain some input from the families of people with intellectual disability (ID) with regard to the attention they get from the early childhood intervention services. Method: The sample included a total of 202 families of children with ID, between 0 and 6 years old, all of them cared for at 13 early childhood intervention centres. Based on a confirmatory factorial analysis, we have explored the psychometric properties of the three scales administered to respondents. Statistical analyses were conducted with the spss software version 17.0 and the EQS software version 6.1 for Structural Equation Models. Results: The results confirm that the factor structure of the "Beach Center Family Quality of Life Scale", the "Beach Center Family-Professional Partnership Scale" and the "Service Inventory" adapted for the Spanish population fit the factor models proposed by the authors of the surveys. Consequently, the scales are ready to be used. Conclusions: The developed measures may serve as a foundation for good decision-making from practices and policies.

Purpose:  All types of cloacal malformations may be associated with anatomic variations of the external genitalia, including hypoplasia of the labia minora and enlarged clitoris; these variations could be even higher in posterior cloacas (PCs). If a careful physical examination is not performed, patients may be misdiagnosed with ambiguous genitalia (AG), leading to subsequent unnecessary testing, surgeries, or even wrong gender assignment. The aim was to analyze data of patients with PC within the ARM-Net registry, focusing on the description of the genitalia, gender assignment, and its consequences. Additionally, we investigated the presence of AG diagnosis in utero or at birth in patients with PC in the literature., Methods:  The ARM-Net registry was scanned for PC cases and data on diagnosis were collected. A systematic literature search was conducted using the PubMed, EMbase, and Web-of-Science databases. Descriptive statistics was used to report data., Results:  Nine patients with PC were identified in the ARM-Net registry. Five patients (55%) were diagnosed with AG, two (22%) were assigned as males and only two patients were correctly assigned as females and diagnosed with PC with respective variations of external genitalia. All patients diagnosed with AG had extensive blood testing including karyotype and hormonal studies. One of the patients who was diagnosed as a male, had surgery for pelvic cystic mass removal, which ultimately led to unaware salpingo-oophorectomy, hysterectomy, and vaginectomy. In the literature we identified 60 patients, 14 (23%) with AG, 1 with clitorolabial transposition and 1 with undeveloped vulva and vagina; 4 patients had normal anatomy. In 40 (67%) patients the anatomy of genitalia was not mentioned., Conclusion:  Patients with PC are at high risk of being diagnosed with AG or even assigned the wrong gender at birth. In our series two patients were assigned as males, and consequently one of them underwent a highly mutilating surgery. A thorough physical examination together with a high index of suspicion and laboratory workup are mandatory to identify these variations, avoiding further investigations, unnecessary surgeries, and parental stress., Competing Interests: None declared., (Thieme. All rights reserved.)

Objective:  Heterotopic pancreas (HP) is a condition in which there is well-differentiated pancreatic tissue that lacks any anatomic or vascular contact with the pancreatic gland. It normally arises from the stomach but can be found in other locations. Although it is usually asymptomatic, obstructive symptoms, bleeding, or malignant degeneration can occur. The incidence is very low, but it is significantly more common in patients with esophageal atresia (EA). The aim of this study is to evaluate the incidence of HP in patients with and without EA and to compare the results in both groups., Material and Methods:  We conducted a 2-year prospective study in pediatric patients who benefited from an upper gastrointestinal endoscopy. Patients were divided into two groups: group "A" comprised patients with EA and group "B" those without EA. The variables analyzed were the clinical presentation, presence of HP, location, associated malformations, genetic disorders, and management., Results:  A total of 192 consecutive patients were included in the study: 51 (26.6%) in group A and 141 (73.4%) in group B. Indications for endoscopy in group B were eosinophilic esophagitis in 37 (19.2%) patients, celiac disease in 23 (11.95%) patients, and other disorders in 81 (42.2%) patients. Gastric HP was found in seven patients, all of them in group A. All lesions were hosted in the prepyloric antrum. The prevalence of HP in groups A and B was 13.7 and 0%, respectively ( p  < 0.05). Female gender was predominant in patients with AE and HP, this result being statistically significant ( p  = 0.044). No other associated malformation or genetic syndrome studied showed association with HP. Only one patient debuted with upper gastrointestinal (GI) bleeding and required excision, while six patients were asymptomatic. The mean follow-up was 54 months (range: 45-78 months)., Conclusion:  The incidence of gastric HP is more common in patients with EA, with the female gender being a risk factor for their association. Active search and follow-up is recommended as it may become symptomatic anytime and need resection., Competing Interests: None declared., (Thieme. All rights reserved.)

Aim: Perineal hemangiomas rarely occur in patients with anorectal malformations (ARMs), but they can pose a significant challenge and warrant special attention. Surgical incision of posterior sagittal anorectoplasty (PSARP) may involve the hemangioma site resulting in hemorrhage, damage to blood supply, leading to complications and adversely affecting outcome. The aim of this study was to review the experience of the ARM-Net Consortium in the management of perineal hemangioma associated with ARM and evaluate treatment strategies., Materials and Methods: Data on all patients with ARM and a perineal hemangioma located in the planes of the PSARP dissection who were managed at participating ARM-Net centers were collected retrospectively by questionnaire, as follows: ARM type, hemangioma distribution and penetration, imaging findings, medical/surgical management, timing of definitive repair, complications and outcome., Results: Ten patients from eight centers were included. Three patients each had a rectobulbar or rectovestibular fistula, 2 had a rectoperineal fistula, and one had a rectoprostatic fistula; in one patient, the hemangioma was too disfiguring to determine malformation type. Mean follow-up time was 36.6 months (median 29 months). Colostomies were performed before definitive repair in 8 patients. Five patients received systemic beta-blockers before PSARP: 3 were operated uneventfully following partial/complete involution of the hemangioma, and 2 are awaiting surgery. The two patients with rectoperineal fistula were managed expectantly. The remaining 3 patients underwent surgery with no preoperative medical treatment, and all had complications: mislocated neoanus in three and complete perineal dehiscence in one., Conclusion: Attempting PSARP in the presence of a perineal hemangioma may lead to complications and adversely affect outcome. This study confirms the benefits of beta blocker treatment before surgical reconstruction., Level of Evidence: Treatment study, level III., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Aim: The purpose of this study is to describe the development of an external 3-dimensional (3D) scanner as a noninvasive method for imaging chest wall deformities. It allows objective assessment, reconstruction of the area of interest, and evaluation of the severity of the deformity by using external indexes., External 3d Scanning System: The OrtenBodyOne scanner (Orten, Lyon, France) uses depth sensors to scan the entire 3D external body surface of a patient. The depth sensors combine structured light with two classic computer vision techniques: depth from focus and depth from stereo. The data acquired are processed and analyzed using the Orten-Clinic software., Materials and Methods: To investigate the performance of the device, a preliminary prospective study (January 2015-March 2016) was carried out in patients attending our hospital chest wall deformities unit. In total, 100 patients (children and young adults) with pectus excavatum or pectus carinatum, treated by surgery or non-operative methods were included. In patients undergoing non-operative treatment, external 3D scanning was performed monthly until complete correction was achieved. In surgically treated patients, scanning was done before and after surgical correction. In 42 patients, computed tomography (CT) was additionally performed and correlations between the Haller index calculated by CT and the external Haller index using external scanning were investigated using a Student's test ( r  = 0.83)., Conclusion: External scanning is an effective, objective, radiation-free means to diagnose and follow-up patients with chest wall deformities. Externally measured indexes can be used to evaluate the severity of these conditions and the treatment outcomes.

Introduction  We describe a two-port laparoscopic technique to create a colostomy in the descending colon with separated stomas for newborns with anorectal malformations. Material and Methods  Six patients with an anorectal malformation underwent this procedure in the early-neonatal period. The surgical technique was performed with two ports, which allows for an accurate inspection of the abdominal contents. The first loop of the sigmoid colon is grasped through the first port and exteriorized while the attachments to the left retroperitoneum and direction of the loop are checked with the scope introduced in the second port. The division of the colon is performed extracorporally, the colon irrigated of meconium, and the distal colon moved to the second port incision. Both stomas are then fixed to the abdominal wall. Results  The time of the procedure ranged from 50 to 90 minutes. A Mullerian duplication was noted in one case. Oral intake was started during the first 12 to 24 hours. No complications were seen during or after the procedure. Conclusions  This technique allows for the precise localization of the colostomy with direct visualization, provides for the inspection of the internal genitalia, eliminates the incision between the two stomas and its complications, allows for painless stoma bag changes immediately after surgery, avoids twisting of the colostomy, and permits a cosmetically pleasing incision at the colostomy closure., (Georg Thieme Verlag KG Stuttgart · New York.)

The authors perform a retrospective study with a 4 years follow up of 46 patients operated of Hirschsprung's disease (HD). In 36 cases by with staplers Rehbein technique (TR) and in 10 others with De la Torre endorectal pull-through (TEPT). In all them diagnosis was achieved by mean of radiology, manometry, and hystochemical procedures. During the surgical procedure was performed in all cases biopsies to confirm the neuronal integrity of the colon descended. In the TR group, 16.6% of patients presented rectal achalasia with constipation due to 3 cms. aganglionic rectum remnant, while in the TEPT group this circumstance are not presented because all aganglionic rectum was eliminated. Otherwise TEPT technique permits an earlier application, diminuend the hospitalization time,shortening the start of feeding and with a good cosmetic result. None of this patients presented infection, stenosis, bleeding or incontinence.