Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report.

The MYCN oncogene encodes a transcription factor belonging to the MYC family. It is primarily expressed in normal developing embryos and is thought to be critical in brain and other neural development. Loss-of-function variants resulting in haploinsufficiency of MYCN, which encodes a protein with a basic helix-loop-helix domain causes Feingold syndrome (OMIM 164280, ORPHA 391641). We present an occurrence of esophageal atresia (EA) with tracheoesophageal fistula in siblings from a three-generation family affected by variable expressivity of MYCN mutation p.(Ser90GlnfsTer176) as a diagnostic effect of searching the cause of familial esophageal atresia using NGS-based whole-exome sequencing (WES). All of our affected patients showed microcephaly and toe syndactyly, which were frequently reported in the literature. Just one patient exhibited clinodactyly. None of the patients exhibited brachymesophalangy or hypoplastic thumbs. The latest report noted that patients with EA and Feingold syndrome were also those with the more complex and severe phenotype. However, following a thorough review of the present literature, the same association was not found, which is also confirmed by the case we described. The variable phenotypic expression of the patients we described and the data from the literature guide a careful differential diagnosis of Feingold syndrome even in cases of poorly expressed and non-specific symptoms.

Thoracoscopic repair of congenital isolated H-type tracheoesophageal fistula.

BACKGROUND/PURPOSE: The available literature on congenital isolated H-type tracheoesophageal fistula (TEF) is limited, and preferred approach varies among centers (cervicotomy, thoracotomy, thoracoscopy). We aimed to present one of the biggest case series of thoracoscopic approach for congenital isolated TEF and to assess the method's feasibility and outcomes. METHODS: Retrospective review of thoracoscopic TEF repair experiences at 2 European university pediatric surgery centers. RESULTS: 9 boys and 3 girls were involved in the study (age 5 days-4 years), 8 of them were newborns (mean birth weight 3013 g, mean gestational age 39 weeks). The most common presenting symptoms were desaturations on feeding in neonates and recurrent respiratory tract infections in older children. The diagnoses were established on contrast study and confirmed with rigid bronchoscopy. The fistulas were located at or below the thoracic inlet; the fistulas were 2 cm above the carina to half the height of the trachea. All patients underwent successful thoracoscopic TEF repair. There were no conversions. The postoperative course was uneventful in all but one who had rethoracoscopy for prolonged postoperative chylothorax. All patients had satisfactory vocal cord function. One patient required reoperation for fistula recurrence 8 months after primary surgery. CONCLUSION: Thoracoscopic approach for isolated H-type TEF seems to be possible as a procedure of choice with satisfactory results and all benefits of minimally invasive procedure. LEVEL OF EVIDENCE: IV (case series).

Laparoscopic Heminephrectomy for Duplex Kidney in Children-The Learning Curve.

Objectives: Outcomes evolution during the learning curve of laparoscopic transperitoneal heminephrectomy in children with a duplex kidney. Materials and Methods: The data of 33 children, operated on between 2008 and 2017, with complicated duplex kidney, were subjected to a retrospective analysis. All patients were operated on by transperitoneal access using the laparoscopic technique. Patients were divided into two groups (1: subsequent operation 1-16, and 2: operations 17-33) to evaluate the learning curve. Results: There was no need for conversion. Total complications occurred in seven patients in Group 1 and 2 patients of Group 2 (p < 0.05). Two patients (6%) (both upper pole heminephrectomies) required reoperation to remove the ureter stump because of recurrent UTIs due to undiagnosed VUR to the stump (1 from each of Groups 1 and 2). Prolonged urine leakage (over 4 days) was observed in four patients (12%; all from group 1); in three patients, conservative treatment was successful, while the placement of a DJ catheter was needed in the fourth. A significant decrease of kidney function (>6%) in scintigraphy was observed in two of the 15 patients after the surgery. The time of surgery decreased from 140 (range 85-185) min in Group 1 to 125 (range 100-150) min in Group 2 (p < 0.05). Conclusions: Laparoscopic heminephrectomy is connected to the learning curve. Most complications occurred in the first 16 operations. With increasing experience, the time of operation decreased. In patients with reflux to the upper pole, referred for upper pole heminephrectomy, it is necessary to consider the removal of the ureter to the level of the vesicoureteral junction.