A case of Potter sequence with WT1 mutation.

Wilms tumor 1 (WT1) is the causative gene of Denys-Drash syndrome and Frasier syndrome, and in most cases, kidney failure develops after birth. We report an unusual case of Potter sequence due to fetal nephropathy and kidney failure with a WT1 mutation. The neonate was born at 37 weeks of gestation, and had no distinctive facial appearance or anomalies of the extremities. The external genitalia were ambiguous. Presence of a penile-like structure or hypertrophic clitoris was noted, and the urethra opened at the base of the penis or clitoris. On ultrasonographic examination, the kidney sizes were small. No kidney cysts were noted, but the kidney parenchymal luminosity was increased. Although the neonate received mechanical ventilation because of severe retractive breathing after birth, he died of poor oxygenation due to air leak syndrome at 60 h after birth. The congenital anomalies of the kidney and urinary tract (CAKUT) gene panel revealed a heterozygous missense mutation in WT1 [NM_024426.6:exon9:c.1400G > A, p.(Arg467Gln)]. In WT1, missense mutations are associated with earlier onset of nephropathy than nonsense or splicing mutations. However, severe cases of fetal onset and early neonatal death with WT1 mutations are rare, and only one severe case with the same missense mutation in WT1 has been reported. Therefore, WT1 mutation may be suspected in Potter sequence patients with external genital abnormalities, and the WT1 missense mutation in our case [NM_024426.6:exon9:c.1400G > A, p.(Arg467Gln)] may indicate a severe case with fetal onset of nephropathy and kidney failure.

Home High-Flow Nasal Cannula Therapy in Children with Congenital Heart Disease.

High-flow nasal cannula (HFNC) therapy has been applied in the perioperative respiratory care for children with congenital heart disease and respiratory problems. However, the information about the feasibility of home HFNC therapy remains lacking among them. We retrospectively reviewed 5 children with congenital heart disease and respiratory problems who underwent home HFNC therapy, and evaluated their feasibility and safety. Age and weight at the introduction of home HFNC therapy were 19 (2-119) months and 5.3 (3.1-11.4) kg, respectively. All subjects had chromosomal anomaly including trisomy 18 in 3 and trisomy 21 in 2 subjects. Cardiac diagnoses included ventricular septal defect in 3, tetralogy of Fallot with complete atrioventricular septal defect in one, and pulmonary atresia with ventricular septal defect in another subject. Other comorbidities involved pulmonary hypertension in 4, micrognathia in 4, West syndrome in one, and bronchial asthma in one subject. Respiratory manifestations involved cyanosis due to upper airway obstruction in 2 and central hypopnea in 2, and recurrent pneumonia in one subject. After home HFNC therapy, systemic oxygen saturation significantly increased from 60 (40-78)% to 83 (83-96)% (P = 0.04), while heart rate and blood partial pressure of carbon dioxide were significantly decreased. There was no adverse event relevant to home HFNC during the follow-up period of 12 (5-49) months. Among them, one patient subsequently underwent tracheotomy at 11 years of age, and two patients weaned to conventional home oxygen therapy at 7 and 23 months of age. Home HFNC is safe and feasible in children with congenital heart disease and respiratory problems.

Abdominal esophageal banding for esophageal atresia with tracheoesophageal fistula in neonates with severe associated anomalies.

PURPOSE: The aim of this study was to evaluate the materials used for abdominal esophageal banding, and to evaluate the complications associated with abdominal esophageal banding. METHODS: The medical records of seven patients with esophageal atresia (EA) and tracheoesophageal fistula (TEF) who underwent abdominal esophageal banding between December 2009 and January 2020 were retrospectively reviewed. RESULTS: The patients were banded with vinyl tape (n = 1), silicone tape (n = 2), polyacetal resin clips (n = 1), or an expanded polytetrafluoroethylene (ePTFE) sheet (n = 3). Banding with vinyl tape resulted in banding failure at postoperative day (POD) 89. One patient with silicone tape developed banding failure at POD 177. In the other patient, it was discovered during radical surgery that the silicone tape had slipped through the abdominal esophagus. Polyacetal resin clip banding resulted in esophageal wall perforation at POD 27. One patient banded with an ePTFE sheet underwent upper gastric transection at POD 650, while another underwent TEF resection at POD 156; in the third patient, the banding condition was maintained for more than 100 days. CONCLUSION: Abdominal esophageal banding is useful as a palliative treatment for EA/TEF with severe associated anomalies. Surgeons should plan the next surgery depending on the patient's condition.

Impacts of surgical interventions on the long-term outcomes in individuals with trisomy 18.

OBJECTIVE: We aim to clarify whether surgical interventions can contribute to improve the long-term outcomes among individuals with trisomy 18. METHODS: We retrospectively studied 69 individuals with trisomy 18 admitted to 4 tertiary neonatal centers between 2003 and 2017. A cohort was divided into two groups: subjects with surgical interventions and conservative treatments. We compared the rates of survival and achieving homecare between the groups. RESULTS: Gestational age and birth weight were 37 (27-43) weeks and 1,700 (822-2,546) g, respectively. There were 68 patients with congenital heart disease and 20 patients with digestive disease. Surgical interventions including cardiac and digestive surgery were provided in 41% of individuals. There was no difference in gestational age (p=0.30), birth weight (p=0.07), gender (p=0.30), and fetal diagnosis (p=0.87) between the groups. During the median follow up duration of 51 (2-178) months, overall survival rates in 6, 12 and 60 months were 57%, 43% and 12%, respectively. Survival to hospital discharge occurred in 23 patients, and the rates of achieving homecare in 1, 6, and 12 months are 1%, 18% and 30%, respectively. There was no significant difference in survival rate (p=0.26) but in the rate of achieving home care (p=0.02) between the groups. Cox hazard analysis revealed that prenatal diagnosis (hazard ratio 0.30, 95%CI: 0.13-0.75), cardiac surgery (hazard ratio 2.40, 95%CI:,1.03-5.55), and digestive surgery (hazard ratio 1.20, 95%CI: 1.25-3.90) were related to the rate of achieving homecare. CONCLUSION: Aggressive surgical interventions contribute not to the long-term survival but to achieve homecare among individuals with trisomy 18. EVIDENCE LEVEL: Level 3 (Prognostic study, Case-Control study).

Transcatheter Closure of a Huge Ductus Arteriosus in a Severely Ill Neonate.

Hemodynamically significant patent ductus arteriosus (PDA) in preterm infants increases morbidity and mortality. Here we describe a 12-day-old neonate with a huge PDA who developed pulmonary hemorrhage following disseminated intravascular clotting and multiple organ failure. Medical treatment or surgical ligation could not be performed because of the patient's poor condition. Transcatheter closure using a commercially available device (Amplatzer Vascular Plug II) successfully treated the huge PDA without major complications. The Amplatzer Vascular Plug II approach might become a new option for PDA closure in small infants, including those who are critically ill.