Journal of Postgraduate Medicine
 Open access journal indexed with Index Medicus & ISI's SCI  
Users online: 5965  
Home | Subscribe | Feedback | Login 
About Latest Articles Back-Issues Article Submission Resources Sections Etcetera Contact
 
  NAVIGATE Here 
  Search
 
 :: Next article
 :: Previous article 
 :: Table of Contents
  
 RESOURCE Links
 ::  Similar in PUBMED
 ::  Search Pubmed for
 ::  Search in Google Scholar for
 ::Related articles
 ::  Article in PDF (177 KB)
 ::  Citation Manager
 ::  Access Statistics
 ::  Reader Comments
 ::  Email Alert *
 ::  Add to My List *
* Registration required (free) 

  IN THIS Article
 ::  Abstract
 ::  Case report
 ::  Discussion
 ::  References
 ::  Article Figures

 Article Access Statistics
    Viewed10196    
    Printed245    
    Emailed7    
    PDF Downloaded186    
    Comments [Add]    
    Cited by others 21    

Recommend this journal


 


 
CASE REPORT
Year : 2001  |  Volume : 47  |  Issue : 3  |  Page : 188-90

Morgagni hernia with Down syndrome: a rare association -- case report and review of literature.


Department of Paediatrics, Seth G.S. Medical College & K.E.M. Hospital, Parel, Mumbai - 400 012, Maharashtra, India. , India

Correspondence Address:
R C Parmar
Department of Paediatrics, Seth G.S. Medical College & K.E.M. Hospital, Parel, Mumbai - 400 012, Maharashtra, India.
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


PMID: 11832621

Rights and PermissionsRights and Permissions


 :: Abstract 

Morgagni hernia is a rare diaphragmatic hernia accounting for only 2% of the congenital diaphragmatic defects. A case of Morgagni hernia was diagnosed radiologically in a 12-months-old male with Down syndrome, with recurrent respiratory distress and chest deformity. The 2-dimensional echocardiography was normal. The diagnosis of Morgagni hernia was confirmed by barium studies. The patient underwent a corrective surgery at 18 months of age following which his symptoms subsided. Literature review revealed only 18 cases of Morgagni hernia with Down syndrome reported till date, with age of presentation varying from neonatal age group to 12 years of age. The mode of presentations varied from asymptomatic detection to severe respiratory distress. The possible mechanism of association and its clinical implication has been discussed. The case emphasises a need for diaphragmatic hernia to be looked for as a possible cause of respiratory distress in Down syndrome.


Keywords: Abnormalities, Multiple, diagnosis,Case Report, Down Syndrome, Hernia, Diaphragmatic, complications,congenital,radiography,Human, Infant, Male, Respiratory Insufficiency, etiology,


How to cite this article:
Parmar R C, Tullu M S, Bavdekar S B, Borwankar S S. Morgagni hernia with Down syndrome: a rare association -- case report and review of literature. J Postgrad Med 2001;47:188

How to cite this URL:
Parmar R C, Tullu M S, Bavdekar S B, Borwankar S S. Morgagni hernia with Down syndrome: a rare association -- case report and review of literature. J Postgrad Med [serial online] 2001 [cited 2019 Dec 11];47:188. Available from: http://www.jpgmonline.com/text.asp?2001/47/3/188/197


Retrosternal hernia occurs rarely as compared to the hiatal and posterolateral types of diaphragmatic hernia and it accounts for only 2% of the diaphragmatic defects.[1] Most cases of Morgagni hernia occur as an isolated defect. Morgagni hernia detected during infancy is often associated with congenital anomalies such as congenital heart disease (ventricular septal defects, atrial septal defect, patent ductus arteriosus, tricuspid regurgitation, tetralogy of Fallot, anomalous pulmonary venous return and endocardial cushion defect), Turner syndrome with coarctation, pectus carinatum,  Prader-Willi syndrome More Details, Cantrell’s syndrome, Noonan syndrome, omphalocoele, retroperitoneal teratoma, and genitourinary anomalies.[2],[3],[4],[5],[6],[7],[8],[9] Its association with Down syndrome has been recently postulated,[2] and only 18 such cases have been reported in the literature.[2],[3],[4],[5],[6],[7],[8],[9],[10],[11],[12] We report a case with similar association, not been reported from India.


  ::   Case report Top


A one-year-old male child, a product of a non-consanguineous marriage born of a singleton first pregnancy to a 26-year-old female was seen with recurrent episodes of respiratory distress from birth. Additionally all his milestones were delayed. The patient had required hospitalisation at the age of nine months for lower respiratory tract infection that was treated with parenteral antibiotics. At his second admission, he had right middle zone consolidation, which responded to parenteral antibiotics. Examination of the patient revealed features of Down syndrome (Mongoloid slant, flat facial features, low-set ears, flat occiput, protruded tongue, bilateral simian crease, bilateral clinodactyly, and generalised hypotonia). The electrocardiogram and 2-Dimensional echocardiography were normal. A careful analysis of the chest roentgenograph after resolution of pneumonia revealed a possibility of herniation of the bowel loops into the right hemithorax. A lateral chest roentgenogram showed widened anterior mediastinum with a radiolucent shadow supporting the presence of a retrosternal hernia.

Ultrasonography of the chest did not show presence of any bowel loop in the chest. Barium study revealed a normal barium meal and barium follow through on intial evaluation. Delayed plates revealed herniation of the transverse colon in the right hemithorax through a retrosternal defect confirming the presence of the Morgagni hernia [Figure - 1].

The patient’s karyotype revealed 47 XY+21 complement. The parents were counselled. The patient underwent a corrective surgery at the age of 18 months through transabdominal route. At the surgery, the herniated transverse colon was reduced following which the hernial sac was excised and the defect was closed. There was no associated malrotation of the gut. The patient made an uneventful recovery and his respiratory symptoms subsided following the surgery.


  ::   Discussion Top


Morgagni hernia is the least common of the congenital diaphragmatic defects occurring with a varied frequency of 1 to 5.1% in a large series.[3],[12],[13] The foramen of Morgagni is a retrosternal space resulting from the failure of fusion of the fibrotendinous portion of the pars tendinalis arising from the costochondral arches with the fibrotendinous portion of the pars sternalis. This space is usually filled with fat and covered by pleura superiorly and peritoneum inferiorly. When present it offers a path through which abdominal viscera can herniate into the chest. Foramen of Morgagni hernia occurs at the anteromedial portion of the junction of the thoracic wall and septum transversum. 90% of this occurs on the right side, 8% on the left and remaining are bilateral.[1]

The vast majority of the cases of Morgagni hernia are detected in asymptomatic children and adults.[3] Vague epigastric discomfort may be the only symptom in many cases. Rarely, the hernia presents in neonates & infants, in whom symptoms such as respiratory distress and cyanosis could be present. Like the Bochdalek hernias at a similar age, other manifestations include cough, choking episodes, vomiting following feeds, constipation, diarrhoea, failure to thrive, post-prandial fullness, and respiratory infections.[3],[5] Some cases may be discovered incidentally by visualizing the air-fluid levels or solid masses in the retrosternal region or on the right side of the chest radiograph.[5] Many cases may remain undetected and present only later in life. This may be due to the fact that though the defect is present from birth, presence of a sac resists herniation through the defect. Rupture of the sac by trauma or raised intra-abdominal pressure allows herniation and development of symptoms. Alternatively viscera may be herniated at an early stage, but patient remains asymptomatic till bowel complications occur.[5] The most common contents of the hernial sac are colon, small bowels, liver, omentum, and stomach.

When a child of Down syndrome presents with respiratory distress to the physician, congenital heart disease, lower respiratory tract infection, gastro-oesophageal reflux and lung anomalies are commonly considered depending upon the clinical settings. Unawareness on the part of the treating physician about occurrence of Morgagni hernia in Down syndrome may be responsible for delayed detection as in our case.

A careful literature search revealed only 18 cases of Down syndrome who had associated Morgagni hernia. The age of presentation varied from neonatal age group to 12 years of age.[7],[13] The mode of presentation varied from asymptomatic detection to the presentation with respiratory distress as in our case.[3],[14] Isolated case of retroperitoneal teratoma with Down syndrome and Morgagni hernia has also been described.[8] Interestingly, identical twins of Down syndrome with identical heart disease and Morgagni hernia have been reported.[7]

Although these cases, represent only a small percentage of patients with Morgagni hernia, this suggests that there may be a genetic component to Morgagni hernia too. This significant association between the hernia of Morgagni and trisomy 21 may reflect defective dorsoventral migration of rhabdomyoblasts from the paraxial myotomes, caused by increased cellular adhesiveness in trisomy 21.[2]

This association has clinical implication too. In addition to screening for congenital heart disease, hypothyroidism, refractive errors; screening procedure for Morgagni hernia may also be undertaken especially in the cases of Down syndrome with respiratory manifestations. In cases of Morgagni hernia, one would have to be cautious to detect cases of mosaic Down that may be missed clinically.

Postnatally besides respiratory distress, clinical examination is usually unrewarding in Morgagni’s hernia. Although chest radiograph may raise suspicions about the presence of Morgagni hernia, the diagnosis should be confirmed by barium studies, ultrasonography, radionucleide scan or computerised tomographic scan.[3],[5] Incarceration and strangulation are the complications of an unoperated hernia. Respiratory compromise due to compressed pulmonary parenchyma may necessitate an early surgery.[7] Surgical repair is usually undertaken through a transabdominal route but transthoracic approach is advocated, if the hernial sac has solid contents. Newer approaches like video-assisted thoracic surgery and laparoscopic repair hold promising future. The latter offers an additional diagnostic advantage as well as the potential for reducing morbidity when compared to laparotomy.[14]

 
 :: References Top

1. Stolar CJH, Dillon PW. Congenital diaphragmatic hernia and eventration. In O’Neill JA, Rowe MI, Grosfeld JL, Fonkalsrud EW, Coran AG, eds. Paediatric Surgery. 5th edn. St. Louis; C. V. Mosby: 1998; pp819-337.  Back to cited text no. 1    
2.Honore LH, Torfs CP, Curry CJ. Possible association between the hernia of Morgagni and trisomy 21. Am J Med Genet 1993; 47: 255-256.  Back to cited text no. 2    
3.Pokorny WJ, McGill CW, Harberg FJ. Morgagni hernias during infancy: Presentation and associated anomalies. J Pediatr Surg 1984; 19: 394-397.  Back to cited text no. 3    
4.Elawad ME. Diaphragmatic hernia in Down syndrome. Ann Trop Paediatr 1989; 9: 43-44.  Back to cited text no. 4    
5.Berman L, Stringer D, Ein SH, Shandling B. The late presenting Paediatric Morgagni hernia: A benign condition. J Pediatr Surg 1989; 24: 970-972.  Back to cited text no. 5    
6.Groff DB. Diagnosis of a Morgagni hernia complicated by a previous normal chest X-ray. J Paediatr Surg 1990; 25: 556-557.  Back to cited text no. 6    
7.Harris GJ, Soper RT, Kimura KK. Foramen of Morgagni hernia in identical twins: Is this an inheritable defect? J Pediatr Surg 1993; 28: 177-178.  Back to cited text no. 7    
8.Quah BS, Menon BS. Down Syndrome associated with retroperitoneal teratoma and Morgagni hernia. Clin Genet 1996; 50: 232-234.  Back to cited text no. 8    
9.Latif Al-Arfaj A. Morgagni hernia in infants and children. Eur J Surg 1998; 164: 275-279.  Back to cited text no. 9    
10.Kubiak R, Platen C, Schmid E, Gruber R, Ludwig K, Rauh W. Delayed appearance of bilateral Morgagni hernia in a child with Down Syndrome. Paediatr Surg Int 1998; 13: 600-601.  Back to cited text no. 10    
11.Becmeur F, Chevalier - Kauffmann I, Frey G, Sauvage P. Laparoscopic treatment of a diaphragmatic hernia through the foramen of Morgagni in children. A case report and review of eleven cases reported in the adult literature. Ann Chir 1998; 52:1060-1063.  Back to cited text no. 11    
12.Comer TP, Clagett OT. Surgical treatment of hernia of the foramen of Morgagni. J Thorac Cardiovascu Surg 1966; 52; 461-468.  Back to cited text no. 12    
13.Synder WH, Greaney EM. Congenital diaphragmatic hernias; 77 consecutive cases. Ped Surg 1965; 57: 567-588.  Back to cited text no. 13    
14.Nguyen T, Eubanks PJ, Nguyen D, Klein SR. The laparoscopic approach for repair of Morgagni hernias. JSLS 1998; 2: 85-88.   Back to cited text no. 14    


    Figures

[Figure - 1]

This article has been cited by
1 Foramen of Morgagni Hernia: Presentation and Treatment
Nasr, A., Fecteau, A.
Thoracic Surgery Clinics. 2009; 19(4): 463-468
[Pubmed]
2 Morgagni hernia with pectum carinatum in a male cadaver
Sabanciogullar, V., Kopar, M.Ż., Erdil, F.H., Cimen, M.
Pakistan Journal of Medical Sciences. 2009; 25(5): 865-868
[Pubmed]
3 Genetic aspects of human congenital diaphragmatic hernia
Pober BR
CLINICAL GENETICS. 2008; 74(1): 1-15
[Pubmed]
4 Morgagnięs hernia: Believing is seeing
McBride, C.A., Beasley, S.W.
ANZ Journal of Surgery. 2008; 78(9): 739-744
[Pubmed]
5 A rare case of congenital anterior diaphragmatic hernia
Ranjini Srinivasagam, V.M., Al Kazemi, N., Al Harbi, M.
Kuwait Medical Journal. 2008; 40(2): 150-152
[Pubmed]
6 A bilateral congenital hernia diaphragmatica of Morgagni | [Toevallige bevinding van congenitale hernia diaphragmatica (CHD) bij een patiëntje met bronchiolitis]
Van Moerkercke, W., Verniest, R., Hellinckx, J.
Tijdschrift voor Geneeskunde. 2007; 63(17): 804-808
[Pubmed]
7 Morgagni hernia mimicking pneumonia in Down syndrome
Picard E, Ben Nun A, Fisher D, et al.
JOURNAL OF PEDIATRIC SURGERY. 2007; 42 (9): 1608-1611
[Pubmed]
8 Associated malformations in Morgagni hernia
Cigdem MK, Onen A, Okur H, et al.
PEDIATRIC SURGERY INTERNATIONAL. 2007; 23 (11): 1101-1103
[Pubmed]
9 Laparoscopic repair of Morgagni hernia and cholecystectomy in a 40-year-old male with Downęs syndrome report of a case
De Paolis, P., Mazza, L., Maglione, V., Fronda, G.R.
Minerva Chirurgica. 2007; 62(3): 197-200
[Pubmed]
10 Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH
Pober BR
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS. 2007; 145C (2): 158-171
[Pubmed]
11 Colonic necrosis because of strangulated recurrent Morgagnis hernia in a child with Down syndrome
Vaos G, Skondras C
JOURNAL OF PEDIATRIC SURGERY. 2006; 41 (3): 589-591
[Pubmed]
12 Congenital diaphragmatic hernia: Not only a neonatal disease | [Ernia diaframmatica congenita: Un problema non solo neonatale]
Don, M., Sacher, B.
Medico e Bambino. 2006; 25(10): 631-641
[Pubmed]
13 An infant with trisomy 21 and tachypnea
Marin J, Lopoo J
PEDIATRIC EMERGENCY CARE. 2006; 22 (3): 170-172
[Pubmed]
14 Treatment of Morgagni hernias by transabdominal approach
Sonmez K, Karabulut R, Turkyilmaz Z, et al.
WEST INDIAN MEDICAL JOURNAL. 2006; 55 (5): 319-322
[Pubmed]
15 Respiratory failure, vomiting and diarrhoea in a patient with Down syndrome
Gonzalez CB, Salazar LF, Jimenez BV, et al.
REVISTA CLINICA ESPANOLA. 2006; 206 (10): 519-520
[Pubmed]
16 Transsternal repair of Morgagni hernia in a patient with coexistent ventricular septal defect and Down syndrome
Mert M, Gunay I
ACTA CHIRURGICA BELGICA. 2006; 106 (6): 739-740
[Pubmed]
17 Clinical presentation and operative repair of hernia of Morgagni
Loong TPF, Kocher HM
POSTGRADUATE MEDICAL JOURNAL. 2005; 81 (951): 41-44
[Pubmed]
18 Fraternal twins with Morgagni hernias
Lau, S.T., Kim, S.S., Ledbetter, D.J., Healey, P.J.
Journal of Pediatric Surgery. 2005; 40(4): 725-727
[Pubmed]
19 Down syndrome: Clinical profile from India
Kava MP, Tullu MS, Muranjan MN, et al.
ARCHIVES OF MEDICAL RESEARCH. 2004; 35 (1): 31-35
[Pubmed]
20 Down syndrome with Morgagni hernia and hypothyroidism
Naveed-ur-Rehman, A., Ahmad, Z., Anwar-ul-Haq, A., Abbas, K.A.
Journal of the College of Physicians and Surgeons Pakistan. 2004; 14(11): 689-690
[Pubmed]
21 Morgagni hernia - A rare form of congenital diaphragmatic hernia
Robnett-Filly B, Goldstein RB, Sampior D, et al.
JOURNAL OF ULTRASOUND IN MEDICINE. 2003; 22 (5): 537-539
[Pubmed]



 

Top
Print this article  Email this article
Previous article Next article
Online since 12th February '04
© 2004 - Journal of Postgraduate Medicine
Official Publication of the Staff Society of the Seth GS Medical College and KEM Hospital, Mumbai, India
Published by Wolters Kluwer - Medknow