BILATERAL MORGAGNI HERNIA IN A CASE OF WEILL – MARCHESANI SYNDROME- A RARE ASSOCIATION

Abstract

Morgagni hernia constitutes only about 2% of all diaphragmatic hernias and bilateral morgagni hernia is extremely rare. Here we present a 75 year old female patient with morphometric features of Weill-Marchesani syndrome who has bilateral morgagni hernia. This association is reported for the first time in literature.

Introduction

Weill-Marchesani syndrome is due to connective tissue abnormality and is inherited as autosomal dominant or recessive disorder. Clinical features of this syndrome include Short stature, Stiffness of joints of upper limbs, microspherophakia, ectopia lentis, low set flat palate and other bony abnormalities. This is considered as the opposite of Marfan’s syndrome. Since connective tissue is defective in this condition weakness of fibro-muscular structures like diaphragm may be expected. Morgagni hernia occurs through the anteriolateral foramen of diaphragm and is mostly seen on the right side. Bilateral morgagni hernia is extremely rare. It is proposed that weakness of the diaphragmatic muscle fibres may be the cause for this rare presentation in Weill Marchesani syndrome.

Case Report

A 75 year old female patient presented to the Pulmonary Medicine Outpatient department. She was referred by her treating physician as a case of right lower lobe pneumonia. She is a diabetic and hypertensive for the last 8 years and was well controlled on medication. She used to work as a head load worker in a coffee plantation and was leading a retired life at present. She was never a smoker but used to chew tobacco. She had six live births and gives history of  history of four term babies dying in utero. 

On examination she is of short stature and poorly nourished.  There is exaggerated thoracic kyphosis and scoliosis to the leftt. Chest movements are diminished on right lower part with impaired percussion note. Breath sound was diminished on right side and coarse crackles were heard on right lower part.

A presumptive diagnosis of right lower lobe pneumonia with sympneumonic effusion was made. Blood routine and sputum examinations were within normal limits. Her symptoms responded to antibiotic and symptomatic measures. The follow up X-Ray showed a nonhomogenous opacity right lower zone. CT thorax revealed that the shadow is due to herniation of abdominal contents to thorax. It demonstrated bilateral Morgagni hernia. There is omentum and transverse colon herniating through right foramen and omentum herniating through left foramen with a definite cleavage separating the two.

This case is unique in that it demonstrates the association of two rare clinical entities. To our knowledge, this is the first report of a bilateral Morgagni hernia in a patient with Weill Marchisani syndrome.

Discussion

Weill-Marchesani syndrome is a disorder of connective tissue. As connective tissue forms the body's supportive framework, providing structure and strength to the muscles, joints, organs, and skin, this syndrome has unique abnormalities in different organ systems. The major signs and symptoms of Weill-Marchesani syndrome include short stature, eye abnormalities, unusually short fingers and toes (brachydactyly), and joint stiffness especially in upper limbs. The eye abnormalities include small, sphere-shaped lens (microspherophakia) and ectopia lentis. These patients may later develop glaucoma, leading to blindness. Occasionally, heart defects or an abnormal heart rhythm can occur in people with Weill-Marchesani syndrome.

Weill-Marchesani syndrome (WMS) appears to be rare with an estimated prevalence of 1 in 100,000 people. WMS can be inherited as an autosomal recessive or an autosomal dominant pattern. Mutations in the ADAMTS10 and FBN1 genes can cause WMS syndrome. The ADAMTS10 gene provides instructions for making a protein which is important for normal growth before and after birth, and it appears to be involved in the development of the eyes, heart, and skeleton. Mutations in this gene disrupt the normal development of these structures, which leads to the specific features of WMS. The FBN1 gene provides instructions for making a protein called fibrillin-1. This protein is needed to form micro fibrils that provide strength and flexibility to connective tissue. The FBN1 mutation responsible for WMS leads to an unstable version of fibrillin-1. This unstable protein interferes with the normal assembly of micro fibrils, which weakens connective tissue and causes the abnormalities associated with WMS. This can affect all fibromuscular structures including diaphragm.

Congenital Morgagni Hernia (CMH) is a rare constituting roughly 2% of all congenital diaphragmatic hernias (CDH)¹. Herniation abdominal content occurs through anterolateral or triangular parasternal gaps in the diaphragm². This mostly occurs on the right side, though they can rarely occur on the left or bilaterally ³. They are generally asymptomatic and incidentally found during an unrelated diagnostic workup ⁴. Berman et al ⁵ treated only 18 cases of CMH over a period of 40 years and Pokorny et al ⁶ reported only 4 cases of CMH over a period of 25 years. Cigdem et al treated 16 cases of CMH over a period of 23 years ⁷.

Giovanni Battista Morgagni, an Italian anatomist, first described the herniation of abdominal contents through the sternochondral triangles in 1769 based on cadaver observation ⁸. Later, in 1828, Larrey described a surgical approach to the pericardial sac through these same triangles. The costochondral triangles have been referred to as the foramen of Morgagni on the right and the space of Larrey on the left. They form when the pars sternalis and a costochondral arch fuse and close around the internal thoracic artery as it becomes the superior epigastric artery. Occasionally these spaces do not fully close and allow for the herniation of abdominal contents into the thorax^{2, 9}.

Morgagni hernias can be diagnosed during any period of life including prenatal period ¹⁰.The majority of these hernias, 90%, occur on the right side of the sternum while the remaining 8% are present on the left ¹¹. Bilateral Morgagni hernia only makes up 2% of all Morgagni hernias. The hernias most frequently contain omental fat and transverse colon. They rarely contain liver or stomach ¹². Sometimes herniation occurs into the pericardial cavity. When this occurs, serious cardiorespiratory compromise may result^{13, 14}. In adults Morgagni hernia is also associated with obesity, trauma, weight lifting, or other causes of increased intra-abdominal pressure. Our patient was a head load worker and this can be a predisposing factor. In the pediatric age group, the presentation of CMH is variable and non-specific. Usually the presentation is that of recurrent chest infection and rarely may present with gastrointestinal symptoms. Our patient also reported with respiratory symptoms rather than gastrointestinal symptoms. Majority of patients suffered repeated attacks of chest infections received several courses of antibiotics and some of them were hospitalized several times.

There is an increased risk of associated anomalies with CMH, with a variable incidence ranging from 34% to 50% ³. One study reported as high as 78.3% associated anomalies in CMH⁴. This study also reported 34.8 % congenital heart disease with an overall 45.5 % of heart defects. ASD and VSD were the commonest associated heart defects. This however did not influence the final outcome and had no effect on the overall morbidity. An interesting association was that of CMH and Down’s syndrome. In a collective series of 46 children with Morgagni’s hernia, 16 (34.8%) of them had Down’s syndrome¹⁵. Cigden et al in a series of 16 patients with CMH seen over a period of 23 years reported a 31.25% incidence of Down’s syndrome ⁷. Other rare clinical associations of morgagni hernia are pulmonary hypoplasia, gastric volvulus, rotational abnormalities and midgut volvulus, hypoplasia of the left ventricle with a left-sided hernia or pleural effusions caused by right-sided involvement and bilateral renal hypertrophy.

Radiographic diagnosis of diaphragmatic hernias is typically made with chest radiographs, ultrasound (US), or computed tomography (CT). Chest radiography often requires anterior-posterior images to evaluate hernia severity and lateral images to evaluate hernia location. Images can vary depending on the contents of the hernia. Solid viscera protruding through the hernia may show an opaque hemithorax with or without mediastinal shift. Hollow viscera are often present as loops of bowel within the thorax. An anterior medial mass on chest radiography can be suggestive of a Morgagni hernia. Radiological differential diagnoses include pneumonia, atelectasis, diaphragmatic eventration, mediastinal lipoma, liposarcoma, abscess, and pleuropericardial cyst ¹⁶.

Computed tomography or ultrasound can be used to confirm a suspected diaphragmatic hernia. Multiphase CT can demonstrate the diaphragm and the organs that herniate through it. Omental vessels can be visualized in some diaphragmatic hernias and can help differentiate it from lipomas or liposarcomas. Intravenous contrast can help enhance these vessels and confirm a diagnosis ¹².

Ultrasound is helpful in assessing diaphragmatic hernias that contain solid viscera. Hepatic echo-texture and color Doppler sonogram can confirm liver in thorax ¹⁷. Hernias that contain hollow viscera can be more difficult to evaluate with US. Air in the bowels and lungs, as well as rib shadowing, can often distort the images and make them difficult to interpret ¹².

The association of Weill Marchesani syndrome and bilateral morgagni hernia is not previously reported in literature. Defective collagen in Weill Marchesani syndrome may be the cause for persistence of defect in the diaphragm leading to herniation. Thus causative relationship between the two clinical entities can be postulated. We propose that this is an extended syndrome of Weill Marchesani syndrome and would like to name it as Weill- Marchesani- Wayanad syndrome giving due credit to the place where it is first reported.

Conclusion

Weill- Marchesani syndrome is an inherited disorder in which there is defect in the collagen tissue. This can present with different manifestations in the body. Here we present a case of Weill- Marchesani syndrome with blateral Morgagni hernia and postulate that defective collagen may be the pathogenetic mechanism for persistence of foramen of Morgagni leading to herniation later. This association is being reported for the first time in literature.

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