Multiple endocrine neoplasia type 2B diagnosed after small intestinal volvulus with progressive megacolon in an adolescent.

Multiple endocrine neoplasia type 2B is a rare autosomal dominant disease characterized by the presence of medullary thyroid carcinoma, pheochromocytoma, Marfan-like fatigue, a peculiar face with thickening of the lips, mucosal neuromas on the lips and tongue, and gastrointestinal phenomena. Most patients harbor pathological variants of the RET gene. Herein, we present the first case of a 14 year-old boy who experienced small intestinal volvulus along with a megacolon, and he was diagnosed with multiple endocrine neoplasia type 2B. The patient complained of constipation since he was 2 years old and slowly progressive abdominal distension at school age. At 14 years of age, he presented with remarkable megacolon mimicking Hirschsprung's disease and complicated with small intestinal volvulus. The volvulus was successfully repaired, and the particularly dilated transverse colon was resected following a rectal biopsy. Histopathological evaluation of the resected transverse colon revealed to be compatible with ganglioneuromatosis. After emergency surgery, the patient was diagnosed with multiple endocrine neoplasia type 2B with medullary thyroid carcinoma, and a de novo variant of RET was confirmed. Gastroenterologists should consider it when treating patients with constipation, especially those with megacolon. Therefore, timely diagnosis may lead to appropriate treatment of medullary thyroid carcinoma and improve mortality.

Optimal Surgical Method and Timing for Low-birth-weight Esophageal Atresia Babies: Multi-institutional Observational Study.

AIM OF THE STUDY: Previous research has shown that low birth weight is one of the risk factors for esophageal atresia. However, there remains a paucity of evidence on the timing and the treatment method. METHOD: Data were collected using a multi-institutional observational study in 11 hospitals that performed surgeries on esophageal atresia babies whose birth weights were ≤1500 g from 2001 to 2020. RESULTS: Of the 46 patients analyzed, median birth weight was 1233 (IQR 1042-1412) g. Within 46 cases, 19 (41%) underwent definitive esophageal anastomosis at the median of age in 8 (IQR 2-101) days. Thirteen out of 19 experienced either closure of tracheoesophageal fistula, gastrostomy, or esophageal banding at the first operation, followed by esophageal anastomosis. Seven infants, including four cases of <1000 g, underwent anastomosis after one month of age to wait for weight gain (variously 2-3000 g). Twenty-one out of 27 infants (78%) who did not receive anastomosis died within one year of age, including 21 (78 %) with major cardiac anomalies and 24 (89%) with severe chromosomal anomalies (trisomy 18). Six survivors in this group, all with trisomy 18, lived with palliative surgical treatments. CONCLUSION: In our study, the definitive esophageal anastomosis was effective either at the first operation or as a later treatment after gaining weight. Although having severe anomalies, some infants receive palliative surgical treatments, and the next surgery was considered depending on their condition. EVIDENCE LEVEL: II.

Novel Causative RET Mutation in a Japanese Family with Hirschsprung's Disease: Case Report and Factors Impacting Disease Severity.

RET gene variances confer susceptibility to Hirschsprung's disease (HSCR) with pathogenetic mutations being identified in half of familial cases. This investigation of familial HSCR was aimed to clarify the relationship between genetic mutations and clinical phenotype using next-generation sequencing. A novel c2313C > G(D771E) RET mutation was identified in all three affected family members. The mutation involved the kinase domain, which is believe to impair RET activity and intestinal function. A second RET mutation, c1465G > A(D489N), was found only in the extensive aganglionosis case. We conclude that the novel c2313C > A(D771E) mutation in RET may be pathogenic for HSCR, while the c1465C > G(D489N) mutation may be related to phenotype severity.

A strategy to prevent tracheo-innominate artery fistula in the course of laryngotracheal separation: 9-year experience in a children's hospital.

AIM OF THE STUDY: Laryngotracheal separation (LTS) is known to be the definitive solution for intractable aspiration pneumonia in neurologically impaired children. Postoperatively, a tracheostomy cannula is usually required. However, there are fatal cannula related complications such as a tracheo-innominate artery fistula (TIAF). We present our methods of preventing TIAF. METHODS: A retrospective review in a single center from 2011 to 2019 identified 57 cases treated with LTS. We divided them into three groups: no pre-existing tracheostomy (n = 26), pre-existing tracheostomy with preservation of the pre-existing fistula (n = 20), and pre-existing tracheostomy without preservation of the pre-existing fistula (n = 11). The first group underwent traditional modified Lindeman's procedure. The second received transection of the trachea above the tracheostomy site, while the third had transection of the trachea at the tracheostomy site and creation of a distal end tracheostomy. Proper length and the angle of the cannula were selected to prevent damaging the innominate artery by the tip of the cannula. If the innominate artery compressed the trachea anteriorly, prophylactic arterial transection was considered. RESULTS: Three patients (5.3%) died from causes unrelated to the surgical treatment. Only one patient had a postoperative TIAF followed by LTS (1.8%). Other postoperative complications were: wound infection (8.8%), intratracheal granuloma (12.3%), intratracheal minor bleeding (10.5%), wound granuloma (43.9%), leakage (1.8%). No one required revision of LTS. CONCLUSION: Success rates of LTS were high without major complications in all three groups and implies a safe operation and a definitive solution to intractable aspiration.

Laparoscopic-endoscopic cooperative surgery for a gastric duplication cyst in the prepyloric region to preserve the pylorus ring in a child: A case report.

Laparoscopic-endoscopic cooperative surgery (LECS) has revolutionized the surgical treatment of submucosal gastric tumors by minimizing resection of the normal gastric wall to avoid deformity of the stomach. We present our experience with a child in whom we successfully resected a gastric duplication cyst in the prepyloric region and preserved the pylorus ring by performing LECS.

Extremely young case of small bowel intussusception due to Peutz-Jeghers syndrome with nonsense mutation of STK11.

Intussusception is a frequent and severe complication of Peutz-Jeghers syndrome (PJS). We herein present the case of a 3-year-old girl who experienced jejuno-jejunal intussusception due to PJS polyps. Despite no apparent family history of PJS, she had exhibited mucocutaneous pigmentation since infancy and recurrent abdominal pain and vomiting from 2 years of age. Segmental resection of the jejunum during emergency laparotomy for the intussusception revealed multiple hamartomatous polyps. Genetic analysis uncovered a germline nonsense mutation of c.247A>T in exon 1 of serine/threonine kinase 11 (STK11). Biannual follow-up surveillance for polyps by esophagogastroduodenoscopy, colonoscopy, and small bowel capsule endoscopy is ongoing. Reports describing the clinical and genetic features of extremely young PJS with intussusceptions are rare, although a literature review of STK11 germline mutations revealed several other pediatric cases of complicating intussusception at ≤ 8 years old. Considering the recent advances in surveillance and treatment options for the small bowel, earlier management of symptomatic children with PJS may be warranted to avoid surgical emergency.

Clinical courses of children with trisomy 13 receiving intensive neonatal and pediatric treatment.

Management of children with trisomy 13 (T13) is controversial because of a paucity of evidence of the natural history, especially focusing on efficacy of treatment. There has been no report regarding natural history of children with T13 receiving intensive neonatal and pediatric treatment without cardiac surgery, although several reports have suggested efficacy of cardiac surgery. To describe the detailed and comprehensive natural history of children with T13 receiving intensive neonatal and pediatric treatment without cardiac surgery, we reviewed clinical information of 24 children with full T13 (15 boys, 9 girls) who were admitted to Nagano Children's Hospital from 1994 to 2016. Intensive neonatal and pediatric treatment without cardiac surgery was provided through careful discussion with the parents. We detailed accurate frequencies of complications, survival, underlying factors and the final modes of death, and psychomotor development of survivors. Unpublished complications including aortopulmonary window, pulmonary-ductus-descending aorta-trunk, biliary system abnormalities, eosinophilic enteritis, and neuroblastoma were described. Accurate frequencies of congenital heart defects (92%) and laryngomalacia and/or tracheomalacia (42%) were determined. The median survival time was 451 days and the 1-year survival rate was 54%. The major underlying factor associated with death was congenital heart defects and heart failure (63%) and the major final mode of death was heart failure (50%). Long-term survivors appeared to show slow but constant psychomotor development. Intensive neonatal and pediatric treatment without cardiac surgery for children with T13 is efficient for survival and psychomotor development, and could be a reasonable choice for parents having fetuses or children with T13.

Preoperative sonographic evaluation of the defect size and the diaphragm rim in congenital diaphragmatic hernia - preliminary experience.

BACKGROUND: Sonographic assessment before congenital diaphragmatic hernia repair has rarely been studied. OBJECTIVE: To evaluate the accuracy of preoperative ultrasound in measuring the defect size and in anticipating the presence of a rim and thereby to determine ultrasound's usefulness in informing the surgical approach for definitive repair of congenital diaphragmatic hernia. MATERIALS AND METHODS: We performed a retrospective review of the medical records of seven children with left congenital diaphragmatic hernia who had undergone ultrasound and definitive repair between 2014 and 2017 at our institution. RESULTS: The estimated defect size by ultrasound to the actual defect size measured intraoperatively for each case were as follows: 23 × 25 mm to 20 × 26 mm (case 1); 23 × 30 mm to 20 × 30 mm (case 2); 43 × 25 mm to 30 × 30 mm (case 3); 21 × 23 mm to 20 × 25 mm (case 4); 19 × 24 mm to 10 × 30 mm (case 5); 32 × 33 mm to 30 × 50 mm (case 6); and almost total absence to 40 × 50 mm (case 7). Presence or absence of each part of the diaphragm rim evaluated by ultrasound was almost identical with the actual intraoperative findings. According to the ultrasound findings, we performed a successful thoracoscopic repair in cases 1-5 with relatively small defects and presence of all parts of the rim or absence of only posterolateral rim. CONCLUSION: There was good concordance between ultrasound findings and operative findings regarding the size of the defect and presence or absence of the diaphragm rim.

Safety and efficacy of noncardiac surgical procedures in the management of patients with trisomy 13: A single institution-based detailed clinical observation.

Intensive treatment including surgery for patients with trisomy 13 (T13) remains controversial. This study aimed to evaluate the safety and efficacy of noncardiac surgical intervention for T13 patients. Medical records of patients with karyotypically confirmed T13 treated in the neonatal intensive care unit in Nagano Children's Hospital from January 2000 to October 2016 were retrospectively reviewed, and data from patients who underwent noncardiac surgery were analyzed. Of the 20 patients with T13, 15 (75%) underwent a total of 31 surgical procedures comprising 15 types, including tracheostomy in 10 patients and gastrostomy in 4. Operative time, anesthesia time, and amount of bleeding are described for the first time in a group of children with T13. All the procedures were completed safely with no anesthetic complications or surgery-related death. The overall rate of postoperative complications was 19.3%. Patients receiving tracheostomy had stable or improved respiratory condition. Six of them were discharged home and were alive at the time of this study. These results suggest at least short-term safety and efficacy of major noncardiac surgical procedures, and long-term efficacy of tracheostomy on survival or respiratory stabilization for home medical care of children with T13. Noncardiac surgical intervention is a reasonable choice for patients with T13.

Long-term follow-up for anicteric survival with native liver after redo Kasai: a first report.

PURPOSE: We present a first report of the long-term follow-up of biliary atresia (BA) patients who became anicteric with the native liver (ANL; total bilirubin <1.5mg/dL) after redo-Kasai. METHODS: Forty-six redo-Kasai cases (1984-2015) were the subjects for this study. ANL ratios were determined using the Kaplan-Meier estimate. RESULTS: BA type was I (n=3), II (n=1), and III (n=42). Mean ages (initial/redo) at Kasai were 60.3/231.9days, respectively. Jaundice persisted after the initial Kasai in 24/46 cases while 22 had recurrence of jaundice after initially becoming anicteric. After redo, 5/24 of the persistent jaundice cases and 14/22 of the initially anicteric cases became anicteric (p<.05). Of these 19, 7 (one type I, six type III) are currently ANL while the remaining 12 had LTx or died. Morbidity/Complications documented in the 7 post-redo ANL cases after a mean follow-up of 16.7years (range: 10.0-31.1) included 4 episodes of cholangitis, 3 episodes of portal hypertension, 4 episodes of esophageal varices, 3 episodes of splenomegaly, one splenectomy, and 4 episodes of thrombocytopenia. CONCLUSIONS: Ours is the first long-term follow-up study of redo-Kasai cases. We found that the ANL ratio after redo-Kasai was low at 7/46 (15.2%) and that ANL were prone to multiple morbidity. LEVEL OF EVIDENCE: Retrospective comparative study, level III.

Complete transection of the left main bronchus caused by blunt thoracic trauma in a child treated by bronchoplasty and lung parenchyma preservation.

Blunt bronchial injuries can be difficult to diagnose and can present months or years after an initial incident. The present case report describes complete transection of a major airway after a potentially fatal delayed diagnosis with a successful outcome after bronchoplasty without the removal of lung parenchyma.

Extraosseous Ewing sarcoma in the mesentery: the first report of cases in children.

Extraosseous ewing sarcoma (EES) is a rare soft-tissue tumor usually found in the extremities or paraspinal region. We describe the case of a 4-year-old boy with a large cystic mass in the mesentery diagnosed as mesenteric lymphangioma preoperatively and as EES after partial resection and histopathological examination. EES in the mesentery is extremely rare, with only 2 reports described in the English literature. This represents the first report of EES in a child.

Population-based study of esophageal and small intestinal atresia/stenosis.

BACKGROUND: The aim of this study was to describe the prevalence of esophageal atresia/stenosis and small intestinal atresia/stenosis in Nagano, Japan, together with associated anomalies, prenatal diagnosis and survival. METHODS: A population-based cohort study of the prevalence of esophageal atresia/stenosis and small intestinal atresia/stenosis was conducted in Nagano in January 1993-December 2011. The Mann-Whitney test, χ(2) test and Kruskal-Wallis test were used to compare variables. P < 0.05 was considered statistically significant. RESULTS: In total, 74 cases of esophageal atresia/stenosis and 87 cases of small intestinal atresia/stenosis (31 duodenal, 56 jejuno-ileal) were identified. Prevalences were 1.97 for esophageal atresia/stenosis and 2.23 for small intestinal atresia/stenosis (0.83 for duodenal atresia/stenosis and 1.49 for jejuno-ileal atresia/stenosis) per 10,000 births, respectively. The prevalence of esophageal atresia/stenosis increased significantly from 1993-2001 to 2002-2011 (relative risk [RR], 1.6), as did the prevalences of duodenal atresia/stenosis (RR, 2.2) and jejuno-ileal atresia/stenosis (RR, 3.1). Chromosomal anomalies, particularly trisomy 21, were seen significantly more often in association with duodenal atresia/stenosis (55%) than with esophageal atresia/stenosis (28%, P < 0.01) or jejuno-ileal atresia/stenosis (2%, P < 0.01). The proportion of patients associated with prenatally diagnosed chromosomal anomaly was higher compared to postnatal diagnosis (P < 0.01) in the esophageal atresia/stenosis group. CONCLUSION: The prevalence of esophageal and small intestinal atresia/stenosis increased significantly from 1993-2001 to 2002-2011. Prenatally diagnosed esophageal atresia/stenosis is associated with multiple anomalies, particularly chromosomal anomalies, compared to other small intestine atresia/stenosis.

Surgical intervention for esophageal atresia in patients with trisomy 18.

Trisomy 18 is a common chromosomal aberration syndrome involving growth impairment, various malformations, poor prognosis, and severe developmental delay in survivors. Although esophageal atresia (EA) with tracheoesophageal fistula (TEF) is a potentially fatal complication that can only be rescued through surgical correction, no reports have addressed the efficacy of surgical intervention for EA in patients with trisomy 18. We reviewed detailed clinical information of 24 patients with trisomy 18 and EA who were admitted to two neonatal intensive care units in Japan and underwent intensive treatment including surgical interventions from 1982 to 2009. Nine patients underwent only palliative surgery, including six who underwent only gastrostomy or both gastrostomy and jejunostomy (Group 1) and three who underwent gastrostomy and TEF division (Group 2). The other 15 patients underwent radical surgery, including 10 who underwent single-stage esophago-esophagostomy with TEF division (Group 3) and five who underwent two-stage operation (gastrostomy followed by esophago-esophagostomy with TEF division) (Group 4). No intraoperative death or anesthetic complications were noted. Enteral feeding was accomplished in 17 patients, three of whom were fed orally. Three patients could be discharged home. The 1-year survival rate was 17%: 27% in those receiving radical surgery (Groups 3 and 4); 0% in those receiving palliative surgery (Groups 1 and 2). Most causes of death were related to cardiac complications. EA is not an absolute poor prognostic factor in patients with trisomy 18 undergoing radical surgery for EA and intensive cardiac management.

Successful tracheobronchial reconstruction of communicating bronchopulmonary foregut malformation and long segment congenital tracheal stenosis: a case report.

Communicating bronchopulmonary foregut malformation (CBPFM) and congenital tracheal stenosis (CTS) are difficult developmental disorders especially when they are presented simultaneously in a patient. The authors report a case of a newborn boy born at 37 weeks of gestation weighing 2356 g with CBPFM (right esophageal lung) and long segment CTS. Staged surgical repair (by-force endotracheal intubation for securing the airway followed by bronchotracheal anastomosis for CBPFM, tracheostomy with handmade, length-adjustable tracheostomy tube, and slide tracheoplasty) was performed. He has been healthy without tracheostomy for 25 months after slide tracheoplasty. This is the first report of a successful tracheobronchial reconstruction for a patient with a long segment CTS and CBPFM preserving the affected lung function.

Umbilical cord inverting technique: a simple method to utilize the umbilical cord as a biologic dressing for sutureless gastroschisis closure.

A sutureless gastroschisis closure provides a cosmetically appealing outcome. The umbilical cord is usually used as a covering material in a sutureless closure because it is a native tissue. However, during the staged closure with a silo placement, special attention is required to keep the umbilical cord moist. The authors report a simple technique to preserve the feasibility of the umbilical cord as a biologic dressing during the silo placement in staged gastroschisis closures.

Successful prenatal and perinatal management of a massive cervicofacial teratoma.

We report a fetus with a massive cervicofacial teratoma successfully managed in the prenatal and perinatal period. A 34-year-old woman was referred to our hospital at 16 weeks' gestation. Ultrasound examination revealed a left anterolateral fetal neck mass indicating typical findings of a teratoma. The tumor grew to tremendous size until occupying most of the uterine cavity causing severe discomfort for the patient. This necessitated ultrasound-guided removal of the intracystic fluid of the massive cervicofacial teratoma during pregnancy. Fetal MRI clearly demonstrated the mass extending from the orbit to the anterior chest wall without compression or deviation of the fetal airway. The entire mass increased to 18 cm in diameter at 37 weeks' gestation. Classical cesarean section was performed immediately after ultrasound-guided removal of the fluid from the cyst. A female infant weighing 3562 g was delivered. Resection of the tumor was accomplished on day 28 of life. The successful outcome in our case illustrates the value of accurate prenatal diagnosis of a giant cervicofacial teratoma using ultrasound and MRI, and careful management of the mother and fetus during the prenatal and perinatal period. It seems that ultrasound-guided removal of the intracystic fluid from the tumor during pregnancy should be considered to prevent preterm delivery.

Endoscopic retrograde biliary drainage for posttraumatic intrapancreatic biliary stenosis in a child.

Bile duct injury caused by blunt abdominal trauma is rare and usually associated with liver parenchymal injury. The authors report the case of a 15-year-old boy with jaundice caused by a posttraumatic isolated common bile duct stricture without associated liver injury. Endoscopic retrograde biliary drainage (ERBD) was performed and the jaundice disappeared 2 months after drainage commenced. Although restenosis and mild jaundice was revealed 2 years after injury, ERBD can be a first-line minimally invasive treatment of pediatric posttraumatic biliary stricture.

The preliminary study of modified Swenson procedure in Hirschsprung disease.

PURPOSE: We have been using the Swenson procedure for more than 3 decades for Hirschsprung disease (HD). Recently, we modified this procedure, leaving the anterior wall below the peritoneal reflection undissected (mSwen). In 2000, we introduced mSwen with laparoscopic guidance (LapmSwen). We hypothesized that (1) omitting anterior wall dissection would not affect postoperative anorectal function, and (2) reduced dissection with better visualization via laparoscopy would reduce operative risks. METHOD: Charts of 89 patients with Hirschsprung disease operated on between 1990 through 2005 were retrospectively reviewed. Comparisons between Swen and mSwen, as well as between mSwen and LapmSwen, were analyzed in terms of operating time, blood loss, and complications. RESULTS: Mean operating times (minutes) were 312 for Swen, 284 for mSwen (P = .152), and 302 for LapmSwen ( mSwen, P = .218). Mean blood loss (mL) were 64.8 for Swen, 60.3 for mSwen (P = .669), and 8.7 for LapmSwen (as compared to mSwen, P = .001). We noted leakage in 7 Swen, 2 mSwen, and no LapmSwen patients. There were no significant differences between Swen and mSwen, or between mSwen and LapmSwen, in the incidence of enterocolitis, constipation, and soiling. CONCLUSION: LapmSwen appeared to be comparable to the standard and modified Swenson procedures in most measures. Operative blood loss may be reduced in the LapmSwen approach.

Esophageal atresia: prognostic classification revisited.

BACKGROUND: Although the Spitz classification is the most widely used prognostic classification for esophageal atresia and/or tracheoesophageal fistula (EA), its discrimination ability remains unclear. We sought to develop a more accurate prognostic classification for EA. METHODS: The records of 121 consecutive infants with EA (1980-2005) were reviewed. The independent variables included 6 clinical characteristics, and the dependent variables were survival and mortality. Stepwise logistic regression analysis was used to construct models predicting mortality and create a revised prognostic classification. The discrimination abilities of the revised classification and the Spitz classification were compared using receiver-operating characteristic (ROC) curves. RESULTS: Birth weight and the presence of major cardiac anomalies were significant prognostic factors for mortality, and major cardiac anomalies affected mortality more than birth weight. The ROC curve for birth weight suggested that 2,000 g was an appropriate cutoff point. The Spitz classification was revised as follows: the revised class I (low-risk group) consisted of patients without major cardiac anomalies and birth weight >2,000 g; class II (moderate-risk group) consisted of patients without major cardiac abnormalities and birth weight <2,000 g; class III (relatively high-risk group) consisted of patients with major cardiac anomalies and birth weight >2,000 g; and class IV (high-risk group) consisted of patients with major cardiac anomalies and birth weight <2,000 g. The ROC comparisons showed that the revised classification provided a significant improvement (P = .049). CONCLUSION: This revised classification can improve the stratification of EA patients and be a useful predictor of survival.