Morgagni hernia with Down syndrome: a rare association -- case report and review of literature.RC Parmar, MS Tullu, SB Bavdekar, SS Borwankar
Department of Paediatrics, Seth G.S. Medical College & K.E.M. Hospital, Parel, Mumbai - 400 012, Maharashtra, India. , India
Correspondence Address: Source of Support: None, Conflict of Interest: None PMID: 11832621
Source of Support: None, Conflict of Interest: None
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,
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. 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, Cantrells syndrome, Noonan syndrome, omphalocoele, retroperitoneal teratoma, and genitourinary anomalies.,,,,,,, Its association with Down syndrome has been recently postulated, and only 18 such cases have been reported in the literature.,,,,,,,,,, We report a case with similar association, not been reported from India.
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 patients 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.
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.,, 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.
The vast majority of the cases of Morgagni hernia are detected in asymptomatic children and adults. 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., 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. 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. 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., The mode of presentation varied from asymptomatic detection to the presentation with respiratory distress as in our case., Isolated case of retroperitoneal teratoma with Down syndrome and Morgagni hernia has also been described. Interestingly, identical twins of Down syndrome with identical heart disease and Morgagni hernia have been reported.
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.
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 Morgagnis 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., Incarceration and strangulation are the complications of an unoperated hernia. Respiratory compromise due to compressed pulmonary parenchyma may necessitate an early surgery. 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.
[Figure - 1]