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Year : 2023  |  Volume : 3  |  Issue : 1  |  Page : 47-50

Age and weight no bars for congenital diaphragmatic hernia

Department of Pediatrics, Institute of Medical Sciences and Sum Hospital (SOA), Bhubaneswar, Odisha, India

Date of Submission08-Dec-2022
Date of Decision23-Jan-2023
Date of Acceptance27-Jan-2023
Date of Web Publication27-Feb-2023

Correspondence Address:
Dr. Debashree Priyadarshini
Department of Pediatrics, Institute of Medical Sciences and Sum Hospital (SOA), Bhubaneswar - 751 003, Odisha
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ipcares.ipcares_282_22

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Background: Congenital diaphragmatic hernia (CDH) of the left side may clinically manifest as chronic wheezing or gastrointestinal reflux disease in older children. Misdiagnosis of CDH is common in later age groups. Case Description: An 11-year-old boy presented to the outpatient department with a history of intermittent cough for 2 years and acid reflux. He was treated with a case of bronchial asthma and received symptomatic treatment for the same, but he continued to have symptoms without much relief. On examination, he was found obese with no signs of respiratory distress. On auscultation, there were reduced breath sounds in the left inframammary, infra-axillary, and infrascapular region with a normal examination of other systems. Management: The chest X-ray was suggestive of heterogeneous opacities engulfing more than half of the left hemithorax in the middle and lower zone of the left lung area with nonvisualization of the left dome of the diaphragm and the presence of abdominal gas shadows in the opacity. Considering the possibilities of diaphragmatic hernia or eventration, high-resolution computed tomography of the thorax was done, and left-sided Bochdalek hernia was confirmed. The child underwent surgical repair uneventfully and was discharged home with no complications. Conclusion: An adolescent boy has a late diagnosis of left-sided CDH. Considering the wide spectrum of clinical presentation, a high index of suspicion is crucial for the diagnosis of CDH since it might develop into a life-threatening condition. An excellent prognosis can be achieved with early diagnosis and effective therapy.

Keywords: Adolescent, Congenital diaphragmatic hernia, bochdalek

How to cite this article:
Priyadarshini D, Sahoo I, Dash M. Age and weight no bars for congenital diaphragmatic hernia. Indian Pediatr Case Rep 2023;3:47-50

How to cite this URL:
Priyadarshini D, Sahoo I, Dash M. Age and weight no bars for congenital diaphragmatic hernia. Indian Pediatr Case Rep [serial online] 2023 [cited 2023 Mar 22];3:47-50. Available from: http://www.ipcares.org/text.asp?2023/3/1/47/370538

The occurrence of congenital diaphragmatic hernias (CDH) is due to the incomplete closure of the musculature of the diaphragm. The incidence of CDH is about 4.8/10,000 live births.[1] The various types include posterolateral (Bochdalek) hernia (85%), followed by anterior (Morgagni) hernia (2%) and some rare varieties like central CDH and those associated with the pentalogy of Cantrell.[2] Despite the high prevalence of Bochdalek hernia in children, diagnosing this condition is extremely difficult, especially when the symptoms are delayed and/or mild. Respiratory illness is the most frequent clinical presentation in infants, whereas gastrointestinal complaints are more common in adolescents. A CDH can remain asymptomatic in 25% of cases. Right-sided hernias are characterized by respiratory symptoms and left-sided ones by gastrointestinal manifestations. Nonetheless, the pulmonary outcome in children is similar, irrespective of which side is involved. Pulmonary hypoplasia and pulmonary hypertension ensue, which increases the associated morbidity and mortality.

In this article, we report a patient presenting in the second decade with mild respiratory symptoms that was diagnosed with a left-sided Bochdalek type of CDH. It is a rare presentation with only a few cases having been reported from India [Table 1].
Table 1: Previous case reports of congenital diaphragmatic hernia among Indian adolescents

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  Clinical Description Top

An 11-year-old boy presented with a history of episodes of intermittent cough for 2 years. The cough was usually nonproductive in nature, without any diurnal or postural variation, and without any aggravation with exposure to dust or any change in season. It was not associated with fever, noisy or mouth breathing, excessive sneezing, headache, hemoptysis, weight loss, loss of appetite, or breathing difficulty. There was no history suggestive of adenoid hypertrophy, such as snoring or mouth breathing. There were no previous reports suggestive of any detailed evaluation done for the above-mentioned complaints. The child was being treated as a case of bronchial asthma with inhalational budesonide (400 mcg/day) and levosalbutamol (100 mcg as required) for the past 3 months without much relief in his symptoms.

We also elicited a history of episodic complaints suggestive of acid reflux that occurred intermittently throughout the day. The clinical manifestations included heartburn, recurrent belching, regurgitation of food, and discomfort in the upper abdomen and chest, which got aggravated on lying down. The severity of these gastric symptoms was mild to moderate, and the child responded to symptomatic treatment with proton-pump inhibitors and sucralfate. He did not have any history of prior hospitalization or surgery. There was no personal or family history of asthma, allergy, or contact with tuberculosis. The child was immunized as per the National Immunization Schedule.

On examination, the vital parameters were stable, with a pulse rate of 92/min, respiratory rate of 18/min, blood pressure of 102/84 mmHg, and an oxygen saturation of 97% in the room air. He weighed 72 kg (>97th percentile as per the Indian Academy of Pediatrics growth chart), had a height of 150 cm (75th–90th percentile), and had a body mass index of 32 kg/m2 (>27 adult equivalent). There was no pallor, icterus, clubbing, lymphadenopathy, or sinus tenderness. The throat and ear examination was normal. The respiratory evaluation revealed reduced breath sounds in the left inframammary, infra-axillary, and infrascapular areas of the left lung without any adventitious sound. Bronchial breath sounds were heard in the left middle lung zone with no dullness on percussion. Examination of the other systems was normal. Based on the history and clinical examination, possibilities of lung fibrosis, consolidation with pleural effusion secondary to pulmonary tuberculosis, diaphragmatic hernia (late onset), foreign body, and congenital anomalies like lung cyst or sequestration were kept.

Management and outcome

Blood investigations, including complete blood count, C-reactive protein, and erythrocyte sedimentation rate, were normal. Gastric aspirate for acid-fast bacilli and cartridge-based nucleic acid amplification test was negative. The chest X-ray revealed heterogeneous opacity engulfing more than half of the left hemithorax in the middle and lower zone of the left lung area [Figure 1]. The left dome of the diaphragm was not visualized, and there were abdominal gas shadows in the opacity. The radiological phenotype was suggestive of diaphragmatic hernia or eventration. A high-resolution computed tomography (CT) of the thorax was done for confirmation of diagnosis which revealed a left CDH (Bochdalek variety) with herniation of the small intestine, a significant portion of the large intestine with mesentery, and the left kidney, with hypoplasia of the left lung [Figure 2]. A pediatric surgery consultation was taken, and the patient underwent posterolateral right-sided thoracotomy to repair the defect, which was found to be 6 cm × 4 cm in dimension, peroperatively. The hernial sac was separated from the diaphragm which was opened, with the contents being guided into the abdomen. The diaphragm was repaired, and a Prolene mesh was used to protect it. The patient was shifted to the ward after 24 h of intensive care. The postoperative period was uneventful, and the patient was discharged 7 days after admission. The child has been on follow-up for the past 6 months and has remained asymptomatic.
Figure 1: Chest Xray image showing pre and post-op status of CDH in the index case

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Figure 2: Coronal (a), sagittal (b), and axial (c) images of High-resolution computed tomography of the thorax showing left-sided diaphragmatic hernia

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  Discussion Top

The usual manifestation of a CDH is the onset of respiratory distress in the first few hours of birth. With improved antenatal care, diagnosis is increasingly being done by fetal ultrasonography as early as the second trimester (the mean gestational age of 24 weeks), depending on the size of the defect.[2],[6] Late-presenting CDH has been estimated to account for 5%–45.5% of all cases of CDH.[4] The term "late-presenting CDH" refers to CDH that is discovered accidentally during a routine chest X-ray examination in an asymptomatic patient or developed initial symptoms after the neonatal period.[7] The male-to-female ratio reportedly varies from 2:1–6:1.[7],[8] Misdiagnosis or a delay in identification is very common in older age groups as the possibility of CDH is not usually considered a differential.[1],[6]

CDH may present with respiratory or gastrointestinal symptoms in infants and young children with delayed clinical presentation. Children who present with gastrointestinal symptoms are slightly older than those who present with respiratory symptoms.[1] Acute hernial incarceration, nausea, chronic vomiting, diarrhea, obstipation, acute gastric dilatation, subcostal pain, undernutrition, and recurrent chest infections are some manifestations that have been described in older children and teenagers.[1] The incidence of CDH presenting as a recurrent wheezer or gastroesophageal reflux disease is not known. However, it has been seen that a few children start to develop respiratory symptoms at rest by early childhood. Small airway obstructions with reduced blood flow in the lung on the side of the hernia in the ventilation-perfusion scan have been found in older children.[2] A lifelong complaint noted with these patients is diminished exercise tolerance. Children with CDH frequently experience intermittent wheezing that necessitates the use of bronchodilators and are at risk for respiratory decompensation with concurrent illness.[2] Normally, CDH is associated with growth retardation and undernutrition; however, in our case, the child was obese.

The initial imaging technique of choice for studying the diaphragm and lungs is an X-ray chest. Pneumonia or major pleural effusion, empyema, pneumothorax, lung cysts, bullae, and gastric volvulus are the most common diagnostic misinterpretations in such situations.[2],[9] With a sensitivity and specificity of 14%–82% and 87%, respectively, CT can be regarded as the gold-standard technique for diagnosis.[10] It provides the unique opportunity to assess the presence, size, and location of a diaphragmatic defect as well as the contents of different types of diaphragmatic hernias. Gastrointestinal contrast studies and magnetic resonance imaging are other diagnostic modalities. Sometimes, the correct anatomy of the hernia and its contents cannot be assessed by the above methods and can only be delineated intraoperatively [Figure 2]. The left CDH was described in the literature as having herniated large intestine, small intestine, stomach, and spleen successively. The right CDH had herniation of the liver, small bowel, and large bowel in that order.[7] It is important to actively seek the presence of other congenital anomalies in patients with CDH. The most frequently associated birth defects are heart malformations, followed by abnormalities of the spinal cord, urinary tract, Pierre Robin syndrome, esophageal atresia, choledochal cyst, intestinal malrotation, and omphalocele.[7],[11] Our patient did not have any coexisting congenital problem.

There is no consensus regarding the absolute indications and timing of corrective surgery. Although late-presenting CDH is thought to be a benign disorder, it can quickly develop into a life-threatening condition due to gastric volvulus or diaphragm rupture, necessitating emergency surgical intervention.[7],[10],[12] Choosing the correct treatment option for CDH repair has proven to be challenging for surgeons. The most common surgical treatment involves principal or patch closure of the diaphragm using an open abdominal approach. When there are concerns about visceral-chest adhesions and the diagnosis is delayed, a thoracotomy or a thoracic and abdominal technique combination may be considered.[10] Although the thoracoscopic approach is successful, it carries a significant risk of recurrence. The development of hemodynamic instability and an increase in pulmonary pressure during the thoracoscopy technique are additional risks. Placing a patch by thoracoscopy may further lengthen the duration of the treatment.[13] In light of all these arguments, thoracoscopic correction of CDH may be advised only in cases of moderate CDH and/or mild pulmonary hypertension. Recently, the laparoscopic approach has been reported to be more efficient and safer and may become a preferred option.[13] In our patient, thoracotomy was preferred due to the delayed clinical manifestation, the risk of adhesion to the chest, and diaphragm rotation on the right side to minimize the side effects. Our patient had a good outcome, the favorable factors being isolated CDH, moderate size of the diaphragmatic defect (4 cm × 6 cm), left-sided hernia, presence of liver in the abdomen, and absence of growth retardation and undernutrition.

The current case adds to the growing body of evidence that CDH can present with a few and mild symptoms, and thus, go unnoticed until adolescence. Therefore, if a child presents with unusual respiratory or gastrointestinal signs in the presence of a suggestive chest X-ray, CDH should be kept in the differential diagnosis. When a diagnosis of CDH is made, even if asymptomatic, it must be treated surgically as soon as possible to avoid complications and potentially fatal outcomes.

Declaration of patient consent

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


We acknowledge the patient's family and the department of pediatrics, IMS, and SUM Hospital for their valuable support and contribution to the study.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Banac S, Ahel V, Rozmanić V, et al. Congenital diaphragmatic hernia in older children. Acta Med Croatica 2004;58:225-8.  Back to cited text no. 1
Longoni M, Pober BR, High FA. Congenital Diaphragmatic Hernia Overview. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1359/. [Last accessed on 2022 Sep 15].  Back to cited text no. 2
Sharma P, Rehsi SS, Das A, et al. A case report on late-onset congenital diaphragmatic hernia in adolescence. Int J Abdom Wall Hernia Surg 2022;5:86.  Back to cited text no. 3
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Kadian YS, Rattan KN, Verma M, et al. Congenital diaphragmatic hernia: Misdiagnosis in adolescence. J Indian Assoc Pediatr Surg 2009;14:31-3.  Back to cited text no. 4
[PUBMED]  [Full text]  
Kadian YS, Kumar C, Kajal P, et al. Late presentation of congenital diaphragmatic hernia in children: A single-institution experience. Arch Intern Surg 2019;9:34.  Back to cited text no. 5
Shah D, Vaghela PK, Patel S, et al. Antenatal diagnosis of congenital diaphragmatic hernia and successful outcome after postnatal surgery. J Fetal Med 2017;4:153-5.  Back to cited text no. 6
Kim DJ, Chung JH. Late-presenting congenital diaphragmatic hernia in children: The experience of single institution in Korea. Yonsei Med J 2013;54:1143-8.  Back to cited text no. 7
Bagłaj M, Dorobisz U. Late-presenting congenital diaphragmatic hernia in children: A literature review. Pediatr Radiol 2005;35:478-88.  Back to cited text no. 8
Elhalaby EA, Abo Sikeena MH. Delayed presentation of congenital diaphragmatic hernia. Pediatr Surg Int 2002;18:480-5.  Back to cited text no. 9
Testini M, Girardi A, Isernia RM, et al. Correction to: Emergency surgery due to diaphragmatic hernia: Case series and review. World J Emerg Surg 2019;14:48.  Back to cited text no. 10
Ghabisha S, Ahmed F, Al-Wageeh S, et al. Delayed presentation of congenital diaphragmatic hernia: A case report. Pan Afr Med J 2021;40:242.  Back to cited text no. 11
Baerg J, Kanthimathinathan V, Gollin G. Late-presenting congenital diaphragmatic hernia: Diagnostic pitfalls and outcome. Hernia 2012;16:461-6.  Back to cited text no. 12
Badillo A, Gingalewski C. Congenital diaphragmatic hernia: Treatment and outcomes. Semin Perinatol 2014;38:92-6.  Back to cited text no. 13


  [Figure 1], [Figure 2]

  [Table 1]


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