A novel method for isolating lymphatic endothelial cells from lymphatic malformations and detecting PIK3CA somatic mutation in these isolated cells.

PURPOSE: Tissue disaggregation and the cell sorting technique by surface markers has played an important role in isolating lymphatic endothelial cells (LECs) from lymphatic malformation (LM). However, this technique may have the drawback of impurities or result in isolation failure because it is dependent on surface marker expressions, the heterogeneity of which has been found in the lymphatic system. We developed a novel method for isolating LM-LECs without using whole tissue disaggregation. METHODS: Seven LM surgical specimens were collected from seven patients with LMs. LM-LECs were detached from the LM cyst wall by "lumen digestion" and irrigating the cystic cavity with trypsin, and maintained in culture. RESULTS: The cells formed a monolayer with a cobblestone-like appearance. Immunohistochemistry and quantitative RT-PCR of these cells revealed high expression of lymphatic-specific genes, confirming their identity as LM-LECs. The whole-exome sequencing and PIK3CA sequencing of these cells revealed somatic mutations in PIK3CA in all cases. CONCLUSIONS: We established a novel technique for isolating LM-LECs from LM tissue by "lumen digestion" without whole-tissue disaggregation. The limited incorporation of non-LM LECs in the isolate in our method could make it an important tool for investigating the heterogeneity of gene expression as well as mutations in LM-LECs.

Lymphatic malformations compromising the upper airway in children: ultrasound-guided intralesional focal sclerotherapy with bleomycin targeting culprit lesions.

PURPOSE: Lymphatic malformations (LMs) compromising the upper airway is a life-threatening and intractable disease. Here, we establish a novel method to perform intralesional focal sclerotherapy targeting the culprit for airway stenosis. METHODS: Between July 2015 and February 2020, 11 patients with airway-compromising LMs were enrolled. To yield maximal effects on the compromised airway with minimal adverse effects, ultrasound-guided intralesional bleomycin sclerotherapy assisted by balloon was performed, aimed at the most responsible lesion around the airway. A retrospective analysis was performed. RESULTS: Ten patients presented with respiratory symptoms, eight of whom required airway support. The last asymptomatic patient showed airway compression on magnetic resonance imaging. The dose of bleomycin injected ranged from 1.3-9 mg per patient per course. A median of one course was required for withdrawal from airway support, and the median time was 15 days. A median of two courses was required to eliminate the lesion adjacent to the airway, which would have potential risk of airway stenosis. No complications were observed. CONCLUSIONS: Our intralesional focal sclerotherapy technique with bleomycin targeting the culprit lesion is dose-sparing, safe, and effective in achieving rapid shrinkage of LMs compromising the upper airway in children, thereby avoiding tracheostomy.

Timing and outcome of stoma closure in very low birth weight infants with surgical intestinal disorders.

PURPOSE: Very low birth weight infants (VLBWIs) are at risk of surgical intestinal disorders including necrotizing enterocolitis (NEC), focal intestinal perforation (FIP), and meconium-related ileus (MRI). We conducted this study to verify whether the timing of stoma closure and that of enteral nutrition establishment after stoma closure in VLBWIs differ among the most common disorders. METHODS: A retrospective multicenter study was conducted at 11 institutes. We reviewed the timing of stoma closure and enteral nutrition establishment in VLBWIs who underwent stoma creation for intestinal disorders. RESULTS: We reviewed the medical records of 73 infants: 21 with NEC, 24 with FIP, and 25 with MRI. The postnatal age at stoma closure was 107 (28-359) days for NEC, 97 (25-302) days for FIP, and 101 (15-264) days for MRI (p = 0.793), and the postnatal age at establishment of enteral nutrition was 129 (42-381) days for NEC, 117 (41-325) days for FIP, and 128 (25-308) days for MRI (p = 0.855). The body weights at stoma closure were 1768 (620-3869) g for NEC, 1669 (1100-3040) g for FIP, and 1632 (940-3776) g (p = 0.614) for MRI. There were no significant differences among the three groups. CONCLUSIONS: The present study revealed that the time and body weights at stoma closure and the postoperative restoration of bowel function in VLBWIs did not differ among the three diseases.

Usefulness of a recanalized umbilical vein for vascular reconstruction in pediatric hepatic surgery.

PURPOSE: Pediatric surgeons currently engage in various abdominal vascular surgeries, which sometimes require vascular conduits or grafts. Herein, we report our experience with patients undergoing vascular reconstruction using a recanalized umbilical vein (rUV) and their long-term outcome. METHOD: Five patients with extrahepatic portal vein obstruction (EHPVO) underwent mesenterico-/porto-left portal vein (PV) bypass surgery using a short rUV conduit with an interposition vein graft. A sixth neonate with a huge hepatic tumor underwent PV reconstruction with anastomosis of rUV to the proximal PV stump following right hepatectomy with partial PV resection. A seventh patient underwent living donor liver transplantation for recurrent hepatoblastoma. The hepatic inferior vena cava (IVC) was resected because of tumor involvement and reconstructed by transposition of the infrahepatic IVC and interposition of rUV obtained from the donor liver graft. RESULTS: Sufficient flow through rUV was achieved and maintained in all patients without any complications during follow-up (0.7-6.9 years). Esophageal varices, splenomegaly, and other laboratory test abnormalities because of portal hypertension disappeared after surgery in patients with EHPVO. CONCLUSION: Our experience confirmed the usefulness and long-term patency of rUV as an entry to the intrahepatic PV and as a free vascular graft to reconstruct PV or IVC.

Impact of an external lengthening procedure on the outcome of long-gap esophageal atresia at our hospitals.

PURPOSE: To demonstrate the outcome of external lengthening for long-gap esophageal atresia (LGEA) at our hospitals. METHODS: Five patients with LGEA underwent external lengthening between 2010 and 2014 (group A), and 11 patients with LGEA underwent other lengthening techniques between 1990 and 2011 (group B). We compared the procedure and outcome between these two groups. RESULTS: The mean birth weight was 2001 g in group A and 2485 g in group B (p = 0.06). The mean age at esophageal reconstruction was 28 days in group A and 227 days in group B (p = 0.03). Although primary esophageal anastomosis without myotomy was feasible in all patients in group A, a myotomy was needed for primary esophageal anastomosis in half of the patients in group B. Anastomotic leakage occurred in none in group A and in six patients in group B (p = 0.03). The mean age at the establishment of full oral feeding was 76 days in group A and 686 days in group B (p = 0.009). CONCLUSION: External traction for LGEA can effectively lengthen the esophagus to enable primary anastomosis at an earlier age. This may facilitate oral intake.

Navigation using indocyanine green fluorescence imaging for hepatoblastoma pulmonary metastases surgery.

To achieve precise and sensitive detection of chemotherapy-resistant hepatoblastoma pulmonary metastases, we performed surgery using indocyanine green (ICG) fluorescence imaging navigation. Lung metastasectomies were performed in 10 patients aged from 1 to 11 years. ICG (0.5 mg/kg) was injected intravenously 24 h before the operation. After a thoracotomy had been performed, a 760-nm infrared ray was applied to the lung using a generator and the 830-nm evoked fluorescence was collected and visualized on a real-time display. In total, 250 fluorescence-positive lesions were extirpated in 37 operations. All of the pathologically positive lesions were clearly fluorescence positive. The diameter of the smallest detectable lesion was 0.062 mm. In two patients, there were 29 extirpated lesions that were pathologically proven not to be hepatoblastoma metastases. Although a problem of false positive remains, this method is very useful for the detection of small pulmonary metastases.

Type IV laryngotracheoesophageal cleft repair by a new combination of lateral thoraco-cervical and laryngoscopic approaches.

Type IV laryngotracheoesophageal cleft (LTEC) is a rare congenital anomaly that is associated with high morbidity and mortality despite various forms of surgical repair. This article presents our strategy for surgical management of type IV LTECs using a combination of lateral thoraco-cervical and laryngoscopic approaches.

Case report: Hepatectomy with Rex bypass for a child with hepatoblastoma and portal vein thrombosis.

Pediatric liver tumors with portal vein obstruction are often candidates for liver transplantation. However, lifelong use of immunosuppressants and invasiveness to healthy donors in the case of living-donor liver transplantation is inevitable. Moreover, when lung metastasis is involved, the lung recurrence rate after liver transplantation is still high. Therefore, transplantation should be avoided as much as possible. In cases of tumors in the right lobe of the liver, complete resection of the portal vein trunk may be possible by creating a Rex bypass, but with the original method, end-to-side anastomosis to the umbilical portal vein is difficult in small children. We report a case of a 2-year-old girl with hepatoblastoma in whom a Rex shunt was created by end-to-end anastomosing the recanalized umbilical vein to the portal vein stump with interposing a vein graft, and the right lobe was successfully resected along with the tumor.

A gallstone in the Roux-en Y limb during pregnancy in a female patient with biliary atresia.

A 28-year-old female developed liver dysfunction at the 13th gestation week of her second pregnancy. A postpartum radiological examination revealed a stone in the Roux-en Y (RY) limb. She underwent surgical removal of the gallstone in the RY limb. Bile congestion during pregnancy led to the development of a gallstone.

Partial internal biliary diversion for patients with progressive familial intrahepatic cholestasis type 1.

We herein report a case of progressive familial intrahepatic cholestasis with partial internal biliary diversion (PIBD). Although by using PIBD an external stoma can be avoided, exposure of the ileocecal junction to bile reflux as well as the effects of the direct bile flow on the colonic mucosa require further investigation.

Yolk sac tumor of the vulva: a case report with recurrence after long-term follow-up.

A yolk sac tumor (YST) of the vulva is extremely rare and highly malignant with recurrence frequently occurring within a year. This report presents the 13th known case of vulvar YST, with recurrence occurring after the longest known follow-up period so far reported in the literature.

Pancreatic head resection preserving the main pancreatic duct for congenital hyperinsulinism of infancy.

Surgical intervention for congenital hyperinsulinism with an unclear focal lesion in the pancreatic head sometimes require the resection of most of the pancreas head and pancreaticojejunotomy. This report presents the case of a patient that underwent pancreatic head resection preserving the main pancreatic duct to avoid pancreaticojejunostomy.

A modified Foker's technique for long gap esophageal atresia.

External traction using the Foker's technique enables elongation in the esophageal segments within days, and allows the primary repair of the long gap. This article presents our modified Foker's technique which was easily applicable for long-gap esophageal atresia.

Infantile hepatic hemangioma and hepatic mesenchymal hamartoma in an infant associated with placental mesenchymal dysplasia: a case report.

BACKGROUND: Although infantile hepatic hemangioma and hepatic mesenchymal hamartoma are relatively common in benign pediatric liver tumors, coexistence of the two tumors is rare. Placental mesenchymal dysplasia is also a rare disorder. We report the case of a baby girl born after a pregnancy complicated by placental mesenchymal dysplasia, who developed both infantile hepatic hemangioma and hepatic mesenchymal hamartoma. CASE PRESENTATION: The patient was born at 32 weeks and 5 days of gestation for impending placental abruption, weighing 1450 g. Liver tumors, composed of both hypervascular solid and large cystic lesions, were detected after birth and markedly increased to create abdominal distention within 9 months. Diagnostic imaging suspected the coexistence of infantile hepatic hemangioma and cystic hepatic mesenchymal hamartoma. Following propranolol therapy for infantile hepatic hemangioma and needle puncture of a large cyst, the cystic lesions and adjacent hypervascular lesions were partially resected via laparotomy. Pathological findings confirmed the coexistence of hepatic mesenchymal hamartoma and infantile hepatic hemangioma, which had no association with androgenetic/biparental mosaicism. The postoperative course was uneventful, and the tumor had not regrown after 3 years. CONCLUSIONS: Although the coexistence of infantile hepatic hemangioma and hepatic mesenchymal hamartoma associated with placental mesenchymal dysplasia is extremely rare, the pathological and pathogenetic similarities between these disorders suggest that they could have derived from similar embryologic origins rather than being a mere coincidence. Further follow-up is required, with careful attention to the potential for malignant hepatic mesenchymal hamartoma transformation.

Endoscopic balloon dilatation for congenital membranous stenosis in the jejunum in an infant.

INTRODUCTION: As endoscopic equipment and instruments have improved, the indications for endoscopic treatment have also been extended. This report presents an applicable procedure of endoscopic balloon dilatation for an infant patient with congenital membranous stenosis in the jejunum. METHODS: We used a 9-mm flexible endoscope and a through-the-scope multidiameter balloon catheter in the endoscopic treatment. RESULTS: Dilatation was performed for dilatation diameters 10, 12, and 15 mm each for 2 min. After carrying out balloon dilatation, the endoscope could be smoothly inserted through the opening. CONCLUSION: In upper jejunal stenosis, endoscopic balloon dilatation was minimally invasive and effective as a treatment modality.

Recanalized umbilical vein as a conduit for mesenterico/porto-Rex bypass for patients with extrahepatic portal vein obstruction.

PURPOSE: Mesenterico-left portal vein (meso-Rex) bypass is as an effective modality for restoring intrahepatic portal perfusion in patients with extrahepatic portal vein obstruction. Achieving sufficient patency is difficult with end-to-side anastomosis of a bypass graft to a small or hypoplastic left portal vein in the Rex recessus. Here, we describe the use of a recanalized umbilical vein in the round ligament as a conduit for bypass construction in two patients. METHODS: Case 1 was an 11-year-old boy diagnosed with rupture of the esophageal varices and hypersplenism due to congenital extrahepatic portal hypertension. Because of persistent hypersplenism and thrombocytopenia, he underwent meso-Rex bypassing with a left iliac vein graft interposed between the umbilical vein and the superior mesenteric vein. Case 2 was a neonate with a large hepatic tumor (mesenchymal hamartoma) that developed abdominal compartment syndrome at birth. The tumor was removed by right hepatectomy with excision of the portal vein bifurcation at 3 days of age. Porto-Rex bypassing was accomplished by end-to-end anastomosis between the portal vein trunk and the umbilical vein. RESULTS: Sufficient hepatopetal portal flow through the umbilical vein was achieved in both patients and maintained for over 16 and 13 months, respectively. Although hypersplenism remained in Case 1, intrahepatic portal vein branches gradually widened and the cavernoma in the hepatic hilum disappeared within 2 months. Neither patient had symptoms or signs of portal hypertension at the most recent follow-up. CONCLUSION: Using the umbilical vein as a vein conduit may facilitate construction of a meso/porto-Rex bypass and restore intrahepatic portal vein perfusion in patients with extrahepatic portal vein obstruction.

Characteristics and treatment of congenital esophageal stenosis: A retrospective collaborative study from three Japanese children's hospitals.

BACKGROUND/PURPOSE: There is no consensus on treatment strategy of congenital esophageal stenosis (CES). This study aimed to assess appropriateness of the treatment we have provided to patients with CES over the past four decades. METHODS: We carried out a retrospective chart review of 83 CES patients treated at three children's hospitals between 1973 and 2015. Each patient underwent an initial treatment with either surgery or a series of dilation that was followed by surgery if dilation failed to improve esophageal transit. Demographic data, course of treatment, outcomes, and complications were analyzed. RESULTS: During this initial treatment, 19 and 64 patients underwent surgery and dilation, respectively. Out of the 64 patients who underwent dilations as an initial treatment, 26 patients eventually required surgery. Out of all patients who required surgery (19 initial treatments + 26 failed dilations), 29 had tracheobronchial remnants and 16 had fibromuscular hypertrophy. Six patients experienced esophageal perforation during dilation and ten experienced anastomotic leakage after surgery. No patients had swallowing difficulties at the latest follow up, 141(9-324) months. CONCLUSIONS: Dilation is recommended as an initial therapy, especially if histological diagnosis of CES is uncertain. Persistent swallowing difficulties after 2 series of dilation may be an indication for surgery. LEVELS OF EVIDENCE: level IV.

Laparoscopic partial circular myectomy for congenital esophageal stenosis due to tracheobronchial remnant.

Congenital esophageal stenosis (CES) is a rare anomaly, and its appropriate management is not well established. This may be the first report describing laparoscopic partial circular myectomy of the esophageal wall in an infant with CES caused by tracheobronchial remnant (TBR). The narrow segment of the esophagus was laparoscopically detected 1 cm above the esophagogastric junction because the segment was whiter and narrower than the other parts of the esophagus. The narrow segment was approximately 1.5 cm in length. Partial anterior 270° circular muscle layers were dissected using hook electrocautery. Small cartilage-like tissues were identified during the procedure. The muscular layers of both ends were interruptedly sutured. Intraoperative complications were not detected. After undergoing balloon dilation for slight residual stenosis, the patient could eat solid foods without vomiting. Laparoscopic partial circular myectomy is safe and effective for short-segment lower esophageal stenosis in patients with CES caused by TBR.

Long-term outcome of children with biliary atresia who were not transplanted after the Kasai operation: >20-year experience at a children's hospital.

OBJECTIVE: Sequential strategies combining the Kasai operation as a first-line treatment and liver transplantation as a second-line option, if necessary, have been accepted for patients with biliary atresia (BA). To understand the role of the Kasai operation in the treatment of BA, it is necessary to analyze the long-term outcome of the operation alone and to evaluate the present status of survivors retaining their native livers. MATERIALS AND METHODS: A retrospective chart review was carried out for a group of 80 patients who had undergone the Kasai operation between 1970 and 1986 at the Kanagawa Children's Medical Center. RESULTS: The 5-, 10-, and 20-year survival rates of patients with their native livers were 63%, 54%, and 44%, respectively. The survival rates varied significantly depending on the type of BA, age at initial Kasai operation, era of surgery, and surgical method. By age 20, nearly half of the adult survivors had already developed liver cirrhosis and its sequelae. Episodes of cholangitis and gastrointestinal bleeding occurred after 20 years of age in 37% and 17% of the adult patients, respectively, and 20% of the adult patients died of liver failure or underwent living-related partial liver transplantation in their 20s. Five female patients gave birth to a total of 9 children, and 1 male patient fathered a child. CONCLUSIONS: Although increasing numbers of patients with BA survive 20 years or more after the Kasai operation, meticulous lifelong postoperative care should be continued for the survivors because of the possibility of hepatic deterioration.

Anorectal malformation associated with a perineal protrusion of the rectal mucosa: case presentation.

We present a rare case of a female neonate with an imperforate anus associated with a perineal mass which may correspond to an extrophied rectal duplication. Associated anomalies were thoracic hemivertebrae and a multicystic dysplastic kidney. Excision of the perineal lesion followed by anal transplantation and perineal reconstruction corrected the anomaly.