• Childhood Kidney Diseases
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• v.13 no.1
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• pp.84-91
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• 2009

We experienced a female neonate with congenital nephrotic syndrome (CNS) associated with congenital diaphragmatic hernia (CDH). Because of the rare combination of two conditions, we report this case with literature review. CDH was found immediately after birth and emergency operation was done for hernia repair. But on the next day, generalized edema and oliguria(0.59 mL/kg/hour) was found and her blood chemistry showed hypoalbuminemia (1.6 g/dL), increased BUN (27.7 mg/dL) and serum creatinine( 1.8 mg/dL) along with heavy proteinuria (4+). We started albumin infusion with a bolus of intravenous furosemide. We suspected the neonate had congenital nephrotic syndrome and her 24hr urine protein was 1,816 mg/day. In spite of immunosuppressive therapy, the nephrotic syndrome and renal failure progressed. We started peritoneal dialysis on the day of life 22 but it was not satisfactory. She was complicated by intracranial hemorrhage and multi-organ failure and expired at 34 days of age. Kidney necropsy was performed which showed diffuse mesangial sclerosis (DMS). Her chromosome study revealed 46, XX and her gene study revealed a heterozygous missense mutation, Arg366His, in Wilms tumor suppressor gene (WT1). This case deserves attention on account of the 4th case of CNS with CDH revealing the Arg366His mutation in the WT1 gene and G the 1st case of early onset renal failure without male pseudohermaphroditism and Wilms tumor with CNS, CDH and the Arg366His mutation in the WT1 gene. So, this report gives support to the hypothesis that Arg366His mutation in the WT1 gene can result in CNS and CDH.

• Neonatal Medicine
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• v.25 no.3
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• pp.102-108
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• 2018

Purpose: Congenital diaphragmatic hernia (CDH) is rare but potentially fatal. The overall outcome is highly variable. This study aimed to identify a simple and dynamic parameter that helps predict the mortality of CDH patients in real time, without invasive tests. Methods: We conducted a retrospective chart review of 59 CDH cases. Maternal and fetal information included the gestational age at diagnosis, site of defect, presence of liver herniation, and lung-to-head ratio (LHR) at 20 to 29 weeks of gestational age. Information regarding postnatal treatment, including the number of days until surgery, the need for inhaled nitric oxide (iNO), the need for extracorporeal membrane oxygenation (ECMO), and survival, was collected. The highest respiratory severity score (RSS) within 24 hours after birth was also calculated. Results: Statistical analysis showed that a younger gestational age at the initial diagnosis (P<0.001), a lower LHR (P=0.001), and the presence of liver herniation (P=0.003) were prenatal risk factors for CDH mortality. The RSS and use of iNO and ECMO were significant factors affecting survival. In the multivariate analysis, the only remaining significant risk factor was the highest preoperative RSS within 24 hours after birth (P=0.002). The area under the receiver operating characteristic curve was 0.9375, with a sensitivity of 91.67% and specificity of 83.87% at the RSS cut-off value of 5.2. The positive and negative predictive values were 82.14% and 92.86%, respectively. Conclusion: Using the RSS as a prognostic predictor with simple calculations will help clinicians plan CDH management.

• Childhood Kidney Diseases
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• v.18 no.2
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• pp.106-110
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• 2014

Congenital thoracic ectopic kidney is a very rare developmental disorder and the rarest type of ectopic kidney. This condition is usually asymptomatic and detected incidentally on routine chest radiography. Most cases of thoracic ectopic kidney develop in adulthood and during the neonatal period, and congenital thoracic ectopic kidney rarely develops in children. Most patients are asymptomatic, and the treatment depends on the diagnosis. Herein, we report a rare case of ectopic thoracic kidney associated with a diaphragmatic hernia in a 15-month-old male infant, who presented with periodic severe irritability. The thoracic ectopic kidney was detected as a mass in the right base of the chest on routine chest radiography.

• Journal of Chest Surgery
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• v.6 no.1
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• pp.109-112
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• 1973

Bochdalek hernia is the most common congenital diaphragmatic hernia and that of the foramen of Bochdalek is rare in right side of the diaphragm. Two cases of right Bochdalek hernia were reported in literatures published in Korea. The first case was associated with hypoplasia of the lung and could not be survived. The second case [four months old male infant] was operated on August 28, 1971. at Ewha University Hospital arid survived. The third case was a three months old male infant who had been born at 8th lunar month in a private clinic. During the period of three months prior to admission this premature infant was suf-fered from mild respiratory distress measured as pneumonia. On December 20. 1972, this infant was admitted at Kyung Hee University Hospital with severe respiratory distress developed abruptly. Chest X-ray examination [barium study] demonstrated right diaphragmatic hernia. Right hemithorax was filled with intestines and right lobe of the liver which were repositioned back into the peritoneal cavity through the foramen of Bochdalek. 3. 0 cm x3.5 cm in size, and the defect was closed with interrupt mattress sutures. There was hypospadia with chordee but no other associated anomalies such as hypoplasia of the lung, malrotation or malfixation of intestines, and cardiovascular anomalies. The Postoperative hospital course was not eventful and the baby was discharged on the 14th postoperative day.

• Journal of Chest Surgery
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• v.16 no.2
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• pp.221-225
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• 1983

Morgagni, in 1760, 1st. described the findings of substernal herniation of abdominal contents into the thoracic cavity, based upon 25 postmortem dissections. Herniation through the foramen of Morgagni is the rarest occurrence of the congenital diaphragmatic hernias and is usually a few symptoms. With the increasing use of routine chest roentgenogram & the need to exclude the possibility of a mediastinal neoplasm, most such cases are brought to the attention of a surgeon. We had experienced 2 cases of Morgagni hernia, which one caused a simple mechanical intestinal obstruction & diagnosed as acute appendicitis with perforation & another one was diagnosed as mediastinal lipoma on routine chest X-ray film at arrival due to traffic accident. We had performed left paramedian abdominal incision as misdiagnosis of acute appendicitis with perforation and repair of the defect and returned transverse colon & stomach into abdominal cavity in one patient. And in another patient, we preferred to approach through right thoracotomy incision and then left upper paramedian abdominal incision and returned the omentum into the abdominal cavity. The post-operative courses were in uneventful and we report these cases and review and discuss the literatures.

• Advances in pediatric surgery
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• v.6 no.1
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• pp.1-9
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• 2000

Despite of advances in perinatal management and treatment modalities congenital diaphragmatic hernia(CDH) remains a frustrating problem. Although the sheep has proven to be a reliable experimental model for the production of intrauterine CDH, the rabbit may have some advantages. These include lower cost, smaller body size, year-round availability, high number of fetuses per pregnancy, and short gestational period. To evaluate the feasibility of the rabbit model of CDH, twenty-seven pregnant New Zealand rabbits were utilized. Hysterotomy and an operative procedure for creating a diaphragmatic defect on gestational day 24 or 25, in two fetuses of each pregnant rabbit were performed. In one fetus of one cornu of the uterus, the left fetal diaphragm was excised through an open thoracotomy(DH group). In another fetus in the other cornu, CDH was created and the trachea clipped(Surgiclip, USSC, Norwalk, Conn., USA) (TL group). Delivery was by Cesarean section on 30 days of gestation. Among twenty- seven pregnant rabbits, 12 in the DH group and eight in the TL group were born alive. The most common herniated organ was the left lobe of the liver. In thee DH group, the lungs were hypoplastic with decreased lung weight/body weight ratio, reduced numbers of alveoli, thicker media of the pulmonary arteries, and immature alveoli. In TL group, the alveoli were more mature and did not differ from the control animals. In conclusion, (1) pulmonary hypoplasia develops in the fetal rabbit diaphragmatic hernia model and (2) simultaneous tracheal ligation prevents pulmonary hypoplasia.

• Journal of Chest Surgery
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• v.22 no.6
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• pp.1088-1091
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• 1989

Foramen of Morgagni hernia is the least common type of all congenital diaphragmatic hernias. These foraminal hernias result from a congenital defect in the development or attachment of the diaphragm to the sternum and costal arch. They occur most commonly on the right side, possibly because of pericardial reinforcement of the left. In our case, occurred on the right side and the contents of the hernial sac were omental fat and a part of transverse colon. We performed transthoracic approach for reduction and repair of foraminal hernia with ligation and interrupted mattress sutures of the margin of the defected diaphragm to the posterior part of the sternum and costal cartilage. The postoperative course was uneventful except posttraumatic delirium and discharged at 21st postoperative day.

• Advances in pediatric surgery
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• v.17 no.2
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• pp.179-187
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• 2011

Experimental tracheal ligation (TL) has been shown to reverse the pulmonary hypoplasia associated with congenital diaphragmatic hernia (CDH) and to normalize gas exchange. The purpose of this study was to determine whether the TL would correct the surfactant deficiency present in the fetal rabbit model of CDH by using lamellar body count. Lamellar bodies are synthesized and secreted by the type II pneumocytes of fetal lung. The phospholipids present in these bodies constitute the major component of pulmonary surfactant. Twenty-one pregnant New Zealand rabbits underwent hysterotomy and fetal surgery on gestational day 24. Two fetuses of each pregnant rabbit were operated. In the fetus of one end of bicornuate uterus, left DH was created by excision of fetal diaphragm through open thoracotomy (DH Group). In the fetus of the other end of bicornuate uterus, left DH and TL were created (TL Group). The fetuses were delivered by Cesarean section on gestational day 31. Fourteen in control group, 12 in the DH group and 13 in TL group were born alive. En bloc excision of lungs, bronchi and trachea was done in all newborn rabbits. A five Fr catheter was inserted through trachea and repeated irrigations with 10 cc normal saline were done. The irrigated fluid was centrifuged at $280{\times}g$ for 5 minutes and the lamellar bodies were counted with the upper level fluid in platelet channel of electronic cell counter. The average lamellar body counts were $37.1{\pm}14.2{\times}10^3/{\mu}L$ in control group, $11.5{\pm}4.4 {\times}10^3/{\mu}L$ in DH group, and $6.5{\pm}0.9{\times}10^3/{\mu}L$ in TL group. Lamellar body count in DH group was lower than in control group and did not increase after TL. This study shows TL has no therapeutic effect on decreased surfactant level of CDH and the pregnant rabbit is appropriate for the animal model of CDH.

• Journal of Chest Surgery
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• v.28 no.11
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• pp.1067-1070
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• 1995

We experienced a case of congenital paraesophageal hiatal hernia[Type;IV in seventeen day-old female and treated through the right thoracotomy, reduction of the herniated viscera ,stomach and some part of transverse colon and omentum by gentle finger push, and narrowing the esopahgeal hiatus. Paraesophageal hiatal hernia accounts for only 5% per cent of all diaphragmatic defects but is a potentially dangerous lesion due to compressed lung by the herniated viscera. Symptoms are related to this, including exertional dyspnea, vomiting, cough, Tachypnea but noncyanotic, etc. Barium study shows that the stomach has herniated into the right pleural cavity. The speckled appearance in the herniated stomach in the herniated stomach was due to food material. It strongly suggests paraesophageal hiatal hernia. The operation was done. We report the case with the brief review of literatures.

• Journal of Chest Surgery
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• v.54 no.5
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• pp.348-355
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• 2021

Background: Congenital diaphragmatic hernia (CDH) is a rare disease often requiring mechanical ventilation after birth. In severe cases, extracorporeal membrane oxygenation (ECMO) may be needed. This study analyzed the outcomes of patients with CDH treated with ECMO and investigated factors related to in-hospital mortality. Methods: Among 254 newborns diagnosed with CDH between 2008 and 2020, 51 patients needed ECMO support. At Asan Medical Center, a multidisciplinary team approach has been applied for managing newborns with CDH since 2018. Outcomes were compared between hospital survivors and nonsurvivors. Results: ECMO was established at a median of 17 hours after birth. The mean birth weight was 3.1±0.5 kg. Twenty-three patients (23/51, 45.1%) were weaned from ECMO, and 16 patients (16/51, 31.4%) survived to discharge. The ECMO mode was veno-venous in 24 patients (47.1%) and veno-arterial in 27 patients (52.9%). Most cannulations (50/51, 98%) were accomplished through a transverse cervical incision. No significant between-group differences in baseline characteristics and prenatal indices were observed. The oxygenation index (1 hour before: 90.0 vs. 51.0, p=0.005) and blood lactate level (peak: 7.9 vs. 5.2 mmol/L, p=0.023) before ECMO were higher in nonsurvivors. Major bleeding during ECMO more frequently occurred in nonsurvivors (57.1% vs. 12.5%, p=0.007). In the multivariate analysis, the oxygenation index measured at 1 hour before ECMO initiation was identified as a significant risk factor for in-hospital mortality (odds ratio, 1.02; 95% confidence interval, 1.01-1.04; p=0.05). Conclusion: The survival of neonates after ECMO for CDH is suboptimal. Timely application of ECMO is crucial for better survival outcomes.