Table of Contents  
Year : 2016  |  Volume : 18  |  Issue : 1  |  Page : 1-5

Late presentation of congenital diaphragmatic hernia in Sub-Saharan Africa: A call for screening and prompt treatment

1 Department of Surgery, Division of Paediatric Surgery, Faculty of Clinical Sciences, College of Health Sciences, University of Ilorin and University of Ilorin Teaching Hospital, Ilorin, Nigeria
2 Department of Surgery, Division of Cardiothoracic and Vascular Surgery, College of Health Sciences, University of Ilorin and University of Ilorin Teaching Hospital, Ilorin, Nigeria
3 Department of Radiology, College of Health Sciences, University of Ilorin and University of Ilorin Teaching Hospital, Ilorin, Nigeria
4 Department of Paediatrics and Child Health, Neonatal Intensive Care Unit, College of Health Sciences, University of Ilorin and University of Ilorin Teaching Hospital, Ilorin, Nigeria

Date of Web Publication1-Mar-2016

Correspondence Address:
Lukman Olajide Abdur-Rahman
Department of Surgery, Division of Paediatric Surgery, Faculty of Clinical Sciences, College of Health Sciences, University of Ilorin and University of Ilorin Teaching Hospital, P. O. Box 5291, Ilorin 240001
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2276-7096.176056

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Background: Congenital diaphragmatic hernias (CDHs) are uncommonly seen anomalies of the diaphragm in our environment. They present late posing great difficulty in diagnosing and management.
Objective: To review our experience in the management of CDH and to draw attention to misdiagnosis and mismanagement of cases.
Methodology: A prospective study on all patients with CDH from August 2008 to June 2014. Protocols and questionnaire were designed for diagnosis, management, and follow-up of the cases.
Results: Eight patients (five males and three females) with age between 15 days and 8 years (median = 5 months) were recruited. Seven (87.5%) cases had hernia of Bochdalek hernia (BH) (one on the right and six on the left) and one had Morgagni hernia (MH). All patients were underweight with a median of 10.7 kg (range = 3.0–17.6 kg). Five (62.5%) cases had recurrent cough, respiratory distress, and postprandrial vomiting; one patient (12.5%) presented with chronic constipation raising the suspicion of Hirschsprung's disease. Diagnosis was confirmed with plain chest X-ray in six patients; upper gastrointestinal contrast in three cases (37.5%) while the patient with chronic constipation and anterior CDH had barium enema, and two patients had chest ultrasound to confirm diagnosis. One patient underwent laparoscopic repair of an MH, and seven patients had open transabdominal repair of BH. The median age at surgery was 7 months (36 days – 96 months). The diaphragmatic defect dimension ranged from 3 cm to 11 cm. Only one patient had 24 h Intensive Care Unit care postsurgery, and median length of stay was 11.8 days (range = 5–27 days) in the open group and only 4 days in the laparoscopic case.
Conclusions: CDHs were uncommon and presented late in our practice. Modalities of management require meticulous and structured professional care. We recommend that postmortem should be done in stillborn and infants' deaths to determine true incidence of CDH and confirm possible high hidden mortality.

Keywords: Airway, cardiovascular system, chronic fluorosis, endocrine system, skeleton, spinal anaesthesia, teeth

How to cite this article:
Abdur-Rahman LO, Bamigbola KT, Adeoye PO, Akande HJ, Nasir AA, Obasa TO. Late presentation of congenital diaphragmatic hernia in Sub-Saharan Africa: A call for screening and prompt treatment. J Med Trop 2016;18:1-5

How to cite this URL:
Abdur-Rahman LO, Bamigbola KT, Adeoye PO, Akande HJ, Nasir AA, Obasa TO. Late presentation of congenital diaphragmatic hernia in Sub-Saharan Africa: A call for screening and prompt treatment. J Med Trop [serial online] 2016 [cited 2019 Dec 9];18:1-5. Available from:

  Introduction Top

Congenital diaphragmatic hernia (CDH) are rare anomalies, which present with obscure symptoms and signs in the prenatal, early postnatal, and even later in life.[1]

Patients with CDH were known to usually present soon after birth with respiratory distress. Occasionally, presentation is delayed because of indefinite symptoms and signs and lack of ability of the caregiver to detect the pathology. This leads to misdiagnosis, mismanagement, and resultant complications.[2],[3],[4] Many patients have been in and out of hospital being treated for the after effects of CDH which made them have poor growth and incapacitation in various developmental milestone activities.

The management in the neonatal life is often challenging as many of the children would need respiratory support for the hypoplastic lungs which might be complicated with pulmonary hypertension. Acute presentation of delayed cases has been reported although most cases of late presentation had excellent results.[1],[5]

This study reports a prospective review of data of late presentation of CDH patients managed at a tertiary health facility in North Central Nigeria.

  Methodology Top

The incidental diagnosis of a case of CDH in 2008 in an 8-year-old boy “piqued our curiosity” and this spectacular case which had a good outcome led us to draw up protocols and questionnaire for diagnostic criteria, management, and follow-up checklist of the cases. The protocol included high vigilance and detailed investigation (including chest X-ray) of children (neonates inclusive) presenting with recurrent respiratory tract infection, respiratory distress, regurgitation, or vomiting and those who had other indications for insertion of chest tubes. All confirmed cases of CDH were stabilized and had their diaphragmatic hernia repaired. Consent was obtained from the parents. The biodata, clinical features, investigations, and treatment modalities were recorded, and the patients were followed up for a minimum of 18 months. Screening using the parameters above was also done in the Neonatal Intensive Care Unit (NICU) for possible cases. The limitations of this study were inability to measure pulmonary wedge pressure and inability to do postmortem in patients who died from suspected respiratory distress syndrome or respiratory failure for cultural and religious reasons. Five cases of traumatic diaphragmatic hernia managed during this period were excluded.

  Results Top

The eight patients were referred from peripheral hospitals with ages ranging between 15 days and 8 years (median = 5 months). There were five males and three females. Bochdalek hernia (BH) was on the left in six cases and one case was on the right. One case was a right anterior diaphragmatic Morgagni hernia (MH). All patients were underweight with a median of 10.7 kg (range = 3.0–17.6 kg) which was 65.3% of expected for age. Five cases each (62.5%) had recurrent cough, respiratory distress, and postprandial vomiting, and 1 (12.5%) case of chronic constipation was suspected to be due to Hirschsprung's disease. There were audible intestinal sounds in the hemithorax and loss or decrease of respiratory sounds in related regions on auscultation in all the patients.

Plain chest X-ray [Figure 1]a and [Figure 1]b was used for diagnosis in seven patients; upper gastrointestinal (GI) contrast study was used for confirmation in three cases while the patients with chronic constipation and anterior CDH had barium enema examination [Figure 2]a,[Figure 2]b,[Figure 2]c, and two patients had chest ultrasound to confirm diagnosis.
Figure 1: (a) Anteroposterior view of the chest showing gas in the bowel loop within the left hemithorax with a contralateral shift of the mediastinum. (b) Anteroposterior view of the chest showing haustral markings in the right hemithorax suggestive of large intestinal herniation with associated shift of mediastinum to the left

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Figure 2: (a) Barium enema study showing herniation of contrast filled colon in the left hemithorax with associated contralateral mediastinal shift. (b) Lower gastrointestinal contrast study showed a contrast filled bowel loop in the right hemithorax. (c) Lateral view of a contrast study showing contrast filled bowel in the anterior mediastinum (in the case with Morgagni hernia?)

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One patient underwent laparoscopic repair of a MH and seven underwent an open repair of BH. The median age at surgery was 7 months (36 days – 96 months).

Intraoperatively, the diaphragmatic defect size [Figure 3] in maximal dimensions ranged from 3 cm to 11 cm [Table 1]. Transabdominal simple interrupted sutures were used for the repair in all cases without the use of mesh patch [Figure 4]. The common intra-abdominal organs found in the thorax were the stomach and small intestine in five cases, the spleen in four cases, the left kidney in two cases, the left lobe of liver in two cases, right lobe in a case, and the transverse colon in six cases [Table 1]. MH managed with laparoscopy had a loop of transverse colon and small intestine in hernia. All patients had close monitor of vital signs in the ward postoperatively, and only one patient had 24 h ICU care due to significant lung hypoplasia. The median length of stay was 11.8 days (range 5–27 days) in the open group and only 4 days in the laparoscopic case.
Figure 3: Diaphragmatic defect after reduction of the herniated intra-abdominal structures

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Table 1: Summary of clinical characteristics and operative findings of late-presenting congenital diaphragmatic hernias

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Figure 4: Repaired diaphragmatic hernia with interrupted Vicryl® suture

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  Discussion Top

CDH is a serious, life-threatening birth defect resulting from a defect in the formation of the diaphragm in association with bilateral lung hypoplasia which leads to postpartum pulmonary hypertension with severe respiratory problems. The incidence of late presentation CDH is reported to be between 5% and 25%.[6],[7],[8] This means that 1: 4–20 cases of all CDH present late.[3] Harrison et al.[3] observed that CDH occurred at least once in every 5455 live births and the “true” mortality was 66%. They noted that more than half of those infants died before they could be treated and this contributed to a substantial “hidden” mortality.[3]

In this study, we are not able to report any incidence because only one case was diagnosed at 29 days of live during this 5 years period in our hospital. This brought about the questions for adequate screening clinically and radiologically in the antenatal and postnatal periods. Our hospital is a tertiary center which receives referrals from peripheral health centers. Many of the potential cases would have been delivered at primary tier hospitals where the chance of survival from the critical presentation is slim. Unfortunately, serial antenatal ultrasound studies are often not focused on or directed at detecting congenital anomalies in our regions. In this instance, many cases which would have benefitted from appropriate referral to specialist centers where delivery and needed prompt postnatal care can be given would have been missed.[9],[10] The rejection of postmortem because of religious and cultural reasons also prevented accurate determination of the occurrence of CDH in our environment.

The etiology of CDH is not known, but there is evidence to suggest roles for genetic and environmental factors. It is also suggested that in late presenting CDH, herniation of the abdominal viscera occurs through a congenital diaphragmatic defect that had been occluded by spleen or liver.[8],[11],[12]

The prevalence has been reported to be equal in both sexes in previous studies; however, our study has shown a 5:3 Male:female ratio. The clinical features in our patients were predominantly respiratory difficulties and failure to thrive due to feed intolerance and recurrent chest infection. The respiratory distress was quite significant in some of the patients that on occasions, they had sternal and costal retractions and sometimes gasp for breath. This is due to the distension of the stomach and other abdominal organs occupying space in the chest cavity, thereby compromising expansion of the already hypoplastic lung [Figure 5]b. Poor diagnostic acumen resulted in delay in providing needed treatment for the patients as exemplified in many of the patients who had several treatments for respiratory tract infections and malaria. The patient admitted in the NICU at 15 days of age was diagnosed to have CDH after 2 weeks of receiving treatment for pneumonia before the surgical team was invited to intervene. A patient also had inappropriate thoracentesis for misdiagnosed pneumothorax. Perhaps, some patients who are empirically treated for pulmonary tuberculosis following failure of resolution of “chronic pneumonia” should be properly and adequately screened for possible presence of a CDH.
Figure 5: (a) Pectus excavatum in a 4 months boy with Bochdalek hernia. (b) Intra-abdominal structures herniating into the chest

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Two patients had pectus excavatum [Figure 5]a while the patient with MH had pectus carinatum. These features can also be used as indicators for exclusion of diaphragmatic defect or background cardiac or respiratory pathology.

In making the diagnosis, plain chest radiograph usually shows the classic radiographic appearance of cyst-like structures (loops of bowel) in a hemithorax with mediastinal shift to the contralateral side [Figure 1]. Abdominal radiograph shows the abdomen relatively devoid of gas. Radiograph taken following the insertion of a nasogastric tube (Ryle's tube) will demonstrate deviation of this tube and location or retention in the chest. Upper and lower GI contrast studies are beneficial in confirming the diagnosis when gastrothorax and colonic herniation are suspected, respectively.

In considering differential diagnosis for diaphragmatic hernia, conditions such as bronchogenic cysts, cystic adenomatoid malformation, loculated pleural effusion, and pneumothorax should be excluded. A computerized tomographic (CT) scan or barium swallow might be helpful in excluding these differentials.

Other useful imaging modalities such as thoracic CT, magnetic resonance imaging, and ultrasonography can also be beneficial. In the prenatal period, diagnosis is better with ultrasonography, which has a high sensitivity in the detection of CDH. Bowel loops may appear to undergo peristalsis in the chest.[13]

We prefer the transabdominal approach for the repair of the BH because it afforded us the opportunity to assess for and correct bowel malrotation, proper placement of herniated solid organs, and release of intra-abdominal adhesion-limiting damage to these structures. It also provided good access to the thoracic cavity. We inserted chest tubes postrepair in two patients who did not have good lung expansion after reduction of thoracic content.

Laparoscopic repair of MHs is becoming more popular and has gained wide acceptance.[14],[15] This type of repair is safe, technically simple, and reliable; and confers all the advantages of minimally invasive surgery including reduced postoperative pain, short recuperation, and reduced severity of wound complications.[14],[15],[16] Our patient had all these benefits, and the confidence of the parents in our service was sustained.

We have successfully managed these late presenting cases of CDH as it is generally obtainable and expected in other parts of the world. The question still remains though as to why we do not have cases presenting in the neonatal period? Are we missing the diagnosis or could many of our stillbirths and perinatal mortality account for some of these cases? Only adequate vigilance, clinical dexterity, and perhaps inquest into unresolved perinatal and neonatal deaths can help us to determine the true incidence of the pathology in our environment. Perhaps, postmortem inquest (hindered by local cultural and religious beliefs) into neonatal death and stillbirths can reveal the true state, then, can we truly adjudge the statement of Ovar Swenson that: “The results of surgical treatment are excellent, and the mortality rate should not be more than 10%.[2] As most of these infants are without associated serious anomalies, the results are gratifying;”[2] otherwise, we can support the claim that there are hidden mortalities due to CDH as proposed by Harrison et al.[3]

Meanwhile, this study concludes that CDH is uncommon and presented late in our practice with possible high hidden infants mortality from undiagnosed cases. The management requires meticulous and structured professional care excluding its presence early to avoid misdiagnosis, mismanagement, and compromised outcome. An elaborate postmortem study on stillbirths and early neonatal and infant deaths in our region would be needed to determine the true incidence of CDH; this would go a long way in providing awareness to caregivers and prepare them for well-targeted interventions.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Kitano Y, Lally KP, Lally PA; Congenital Diaphragmatic Hernia Study Group. Late-presenting congenital diaphragmatic hernia. J Pediatr Surg 2005;40:1839-43.  Back to cited text no. 1
Swenson O. Chalasia, achalasia, hiatus hernia, and diaphragmatic hernia. In: Swenson O, editor. Pediatr Surg: 2nd ed. New York; Appleton-Century-Crofts Inc, 1962. p. 189-201.  Back to cited text no. 2
Harrison MR, Bjordal RI, Langmark F, Knutrud O. Congenital diaphragmatic hernia: The hidden mortality. J Pediatr Surg 1978;13:227-30.  Back to cited text no. 3
Hamid R, Baba AA, Shera AH, Wani SA, Altaf T, Kant MH. Late-presenting congenital diaphragmatic hernia. Afr J Paediatr Surg 2014;11:119-23.  Back to cited text no. 4
[PUBMED]  Medknow Journal  
Elhalaby EA, Abo Sikeena MH. Delayed presentation of congenital diaphragmatic hernia. Pediatr Surg Int 2002;18:480-5.  Back to cited text no. 5
Berman L, Stringer D, Ein SH, Shandling B. The late-presenting pediatric Bochdalek hernia: A 20-year review. J Pediatr Surg 1988;23:735-9.  Back to cited text no. 6
Osebold WR, Soper RT. Congenital posterolateral diaphragmatic hernia past infancy. Am J Surg 1976;131:748-54.  Back to cited text no. 7
Newman BM, Afshani E, Karp MP, Jewett TC Jr., Cooney DR. Presentation of congenital diaphragmatic hernia past the neonatal period. Arch Surg 1986;121:813-6.  Back to cited text no. 8
Johnson DG, Deaner RM, Koop CE. Diaphragmatic hernia in infancy: Factors affecting the mortality rate. Surgery 1967;62:1082-91.  Back to cited text no. 9
Rozmiarek AJ, Qureshi FG, Cassidy L, Ford HR, Hackam DJ. Factors influencing survival in newborns with congenital diaphragmatic hernia: The relative role of timing of surgery. J Pediatr Surg 2004;39:821-4.  Back to cited text no. 10
Baglaj M. Late-presenting congenital diaphragmatic hernia in children: A clinical spectrum. Pediatr Surg Int 2004;20:658-69.  Back to cited text no. 11
Klaassens M, de Klein A, Tibboel D. The etiology of congenital diaphragmatic hernia: Still largely unknown? Eur J Med Genet 2009;52:281-6.  Back to cited text no. 12
Wilcox DT, Irish MS, Holm BA, Glick PL. Prenatal diagnosis of congenital diaphragmatic hernia with predictors of mortality. Clin Perinatol 1996;23:701-9.  Back to cited text no. 13
Kuster GG, Kline LE, Garzo G. Diaphragmatic hernia through the foramen of Morgagni: Laparoscopic repair case report. J Laparoendosc Surg 1992;2:93-100.  Back to cited text no. 14
Yavuz N, Yigitbasi R, Sunamak O, As A, Oral C, Erguney S. Laparoscopic repair of Morgagni hernia. Surg Laparosc Endosc Percutan Tech 2006;16:173-6.  Back to cited text no. 15
Durak E, Gur S, Cokmez A, Atahan K, Zahtz E, Tarcan E. Laparoscopic repair of Morgagni hernia. Hernia 2007;11:265-70.  Back to cited text no. 16


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]

  [Table 1]


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