Bilateral Congenital Diaphragmatic Hernia in a Neonate Managed Surgically

Abstract

Bilateral congenital diaphragmatic hernia (CDH) is a rare birth defect associated with poor prognosis associated with pulmonary hypoplasia, pulmonary hypertension, and other congenital anomalies. We describe a female neonate with bilateral CDH who was successfully managed surgically. A brief review of literature is also described.

INTRODUCTION

Congenital diaphragmatic hernia (CDH) is a rare birth defect with an incidence of 1 in 2000–3000 live births.[1] The left posterior defect, also known as Bochdalek's hernia is more common (present in 75%–90% of cases) than the right anterior defect (Morgagnian hernia).[1,2] Associated chromosomal anomalies are present in 30%–50% of cases of unilateral CDH.[2] Syndromes such as Fryns and Bachman de Lange syndromes may be associated in such cases and need to be ruled out by karyotyping and sonographic evaluation.[2]

Bilateral CDH is seen in <1%–2% of all CDH cases;[3] 2% of them being sporadic and 10% familial.[4] Bilateral CDH has been reported to be associated with poorer prognosis and high mortality.[2] Complete absence of the diaphragm may be considered as an extreme form of bilateral CDH.[3] We present a female neonate with bilateral CDH who was successfully managed surgically. A brief review of the literature follows.

CASE REPORT

A 5 days female neonate was admitted with complaints of respiratory distress and wheeze. Her weight was 2.5 kg and she was full-term normal delivery at a peripheral hospital from where she was referred to this institute for respiratory distress. There was no history of cyanosis, cough, or choking after feeding. At admission, her respiratory rate was 66/min and SpO₂ was 92% on intranasal oxygen at 4 liters. The abdomen was scaphoid. Air entry was reduced bilaterally; bowel sound could be auscultated on the left side and the upper border of liver dullness was present up to 3^rd intercostal space on the right side. The patient was kept nil orally with a nasogastric tube in situ for gastric decompression; intravenous fluids and antibiotics were administered and respiratory rate and SpO₂ were continuously monitored.

Blood investigations revealed metabolic acidosis; the X-ray chest was suspicious of bilateral CDH with evidence of consolidatory changes in bilateral lower lobes. Two-dimensional echocardiography suggested a 5 mm atrial septal defect with the left to right shunt. Biventricular functions were normal and there was no evidence of pulmonary arterial hypertension (PAH). High-resolution computed tomography of the thorax revealed left posterior diaphragmatic defect of 3.2 cm with herniation of the stomach, spleen, distal transverse colon, splenic flexure, and proximal descending colon along with the mesentery suggestive left CDH; right-sided diaphragmatic defect with herniation of the liver and consolidatory changes in left perihilar and right lower lobe [Figures 1-3].

Figure 1.

Computed tomography of the thorax (coronal section) suggesting bilateral posterior diaphragmatic defects with herniation of the liver on the right side and stomach, spleen and bowel on the left side

Figure 3.

Computed tomography of the thorax (sagittal section) suggesting left posterior diaphragmatic defect with herniation of the stomach, spleen and bowel in the left hemithorax

Figure 2.

Computed tomography of the thorax (sagittal section) suggesting right posterior diaphragmatic defect with herniation of the liver in the right hemithorax

The patient was taken for surgery after preoperative stabilization. Left CDH was repaired first by left subcostal incision. There was typical left Bochdalek hernia with no muscle development on the posterolateral side; contents were stomach, spleen, and colon. The contents were reduced and the defect was repaired in two layers [Figure 4]. An intercostal drain was kept in the left hemithorax. Right-sided subcostal incision was then taken and a defect in the right posterior diaphragm was seen with well-developed muscle rims; contents were part of the right lobe of the liver and small bowel. The defect was repaired in two layers after reducing the contents keeping an Intercostal Chest Drain (ICD) in the right hemithorax [Figure 5]. Bilateral incisions were then closed in layers.

Figure 4.

Left-sided diaphragmatic defect being repaired

Figure 5.

Right-sided diaphragmatic defect being repaired

Postoperatively, the patient was electively ventilated for 24 h, after which he was weaned off. Nasogastric feeds were started after extubation and increased gradually. The patient recovered well and was discharged on the 10^th postoperative day. She is on regular follow-up for the past 1 year and has no complaints.

DISCUSSION

Embryologically, CDH occurs early (around 8^th week) in gestation and results from anomalous closure of embryonic pleuroperitoneal canals by pleuroperitoneal folds.[3,4] The abnormal presence of abdominal contents in the thoracic cavity hampers the normal pulmonary and cardiac development and also causes physical displacement of the mediastinum.[4] This results in insufficient branching of the bronchial tree, decreased number of alveoli, delayed maturity of respiratory epithelium, and surfactant deficiency.[4] The pulmonary resistance is high and after birth, there is the persistence of fetal circulation and with increasing PAH, leads to the right to left shunting.[4]

Being an early defect, bilateral CDH is associated with genetic defects and other congenital anomalies; common being cardiac anomalies.[5] Ventricular septal defect (VSD) is the most common cardiac anomaly associated with bilateral CDH.[5] Malrotation of bowel results due to abnormal rotation and fixation of the fetal gut.[6] Hepatopulmonary fusion and anomalous right pulmonary venous drainage into the hepatic vein have also been reported in the literature.[3]

Bilateral CDH can be prenatally diagnosed if fetal ultrasound suggests a mediastinal shift to a more upward and forward position in the thorax and an unusually mild degree of lateral shift.[3] Song et al. in 2001 suggested that bilateral CDH should be suspected when there is lesser degree of the mediastinal shift than is expected in unilateral CDH.[5] This coupled with a family history of CDH and abnormal anatomy of hepatic vessels determining an abnormally high liver position helps to confirm the diagnosis. Adequate counseling of the family members should then be done with respect to chromosomal analysis, associated anomalies, and prognosis of the baby. Fetal magnetic resonance imaging helps to better delineate the herniated organs and also helps to determine lung volume.[3]

Lung-head-ratio (LHR) remains the most sensitive prognostic factor.[3] An LHR of 1.4 or more is associated with good prognosis with tertiary postnatal care and an LHR of 0.6 or less needs fetal surgery for survival.[3] Another prenatal prognostic factor is herniation of the fetal liver with corelates with the severity of pulmonary hypoplasia.[3] Fetuses with liver in hemithorax have approximately 50% survival as reported in various studies.[3] The liver position is challenging to determine; color Doppler USG should be able to visualize the position of the right and left branches of the portal veins.[3] Thus, fetuses at high risk could be identified and offered fetal surgery at appropriate centers if parents are affording and willing.

At birth, a neonate with bilateral CDH presents with respiratory distress, sternal protrusion, scaphoid abdomen, obscured breath sounds, and displaced heart sounds.[4] Respiratory distress is caused by pulmonary hypoplasia, pulmonary hypertension, and persistent fetal circulation leading to the right to left shunt; and is aggravated by feeds.[4] Diagnosis is confirmed by a chest X-ray.[4] Management involves avoiding bag and mask ventilation, high-frequency oscillatory respiratory support, gastric deflation by nasogastric tube, fluid, and appropriate ionotropic support.[4] The main aim of medical management is to avoid impending respiratory failure, control pulmonary hypertension, correct acidosis, and stabilize; the patient before surgical management can ensue. Early surgery without medical stabilization has been reported to be associated with poor outcome.[3] Extracorporeal membrane oxygenation is reserved for severe pulmonary failure.[4]

Definitive management is surgical– abdominal approach is preferred by most surgeons, as used in our patient.[1,3] By abdominal approach, liver mobilization is easy and the diaphragmatic defect can be tackled with much ease; also, the application of synthetic mesh in large defects becomes easy.[1,3] In some patients, a silo may also be required which can be addressed by abdominal approach.[1,3] However, the medial mobilization of the liver should be done with extreme caution to avoid damage to anomalous pulmonary vessels.[3] Prognosis is poor in the majority of these patients; especially those with bilateral CDH and associated anomalies; the most common cause of mortality being pulmonary hypertension.

Available literature suggests isolated case reports with poor outcomes.[1] In a retrospective review of patients with CDH managed in 83 different hospitals in the USA, Neville et al. in 2003 reported 65% mortality rate in bilateral CDH compared with 33% in unilateral CDH.[7] In 2017, Bawazir reported 80 patients with bilateral CDH in large international cohort study over 20 years duration with mortality of 74%.[3] In 1990, Bruce and Doig reported the first survivor of bilateral CDH following surgical repair.[6] Although familial inheritance was reported earlier, prenatal diagnosis and familial inheritance were suggested by Paek et al. in 2000.[2]

However, favorable outcomes have been reported by St Peter et al. in 2005, Bennett et al. in 2005 and by Zaupa et al. in 2007.[8,9] In 2006, Ninos et al. reported rare bilateral anteromedial diaphragmatic hernias of Morgagni and Larrey.[10] Successful staged thoracoscopic repair of bilateral CDH has also been described in 2010 by Said et al.[11] and in 2011, Khandelwal and Oelschlager presented a video showing laparoscopic repair of bilateral CDH with mesh.[12] In 2012, Dhua et al. reported a neonate with bilateral CDH who underwent surgery after preoperative stabilization wherein a silo was used as abdominal closure was difficult; however, the baby succumbed in the postoperative period because of severe pulmonary hypertension.[1] In 2017, Kulgod et al. described an 18-year-old boy with bilateral CDH, malrotation of gut and osteogenesis imperfecta who presented with respiratory distress.[13] Delayed presentation of bilateral CDH has also been reported by Gómez-Rosales et al. and James et al.[14,15] In 2015, Nimesh et al., described the brief highlights of difficulties in management and diagnosis of this rare congenital anomaly.[4]

In 2019, Bawazir reported bilateral CDH associated with hepatopulmonary fusion, VSD, sequestration of the lower lobe of the right lung, patent ductus arteriosus, pulmonary hypertension, and partial anomalous pulmonary venous connection.[3]

CONCLUSION

Bilateral CDH is a rare entity and prognosis is guarded in view of associated major anomalies and pulmonary hypertension. Antenatal diagnosis aids to segregate high risks fetuses and appropriate perinatal management would be helpful. Appropriate investigations to diagnose associated anomalies is essential. With advances in perinatal care and neonatal intensive care units, favorable outcomes could be expected in neonates with no/less severe pulmonary hypertension and no major associated congenital anomaly.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.