IMAGING CASE REPORT
Neonatal marfan syndrome with hiatus herniaand intrathoracic stomachTE Herman1, MJ Siegel1, A Mathur2 and A Vachharajani2
Journal of Perinatology (2013) 33, 652–653; doi:10.1038/jp.2013.15
CASEA 3040 gram infant was born at 37 weeks to an 18 year old gravida1, para 0 mother. The pregnancy was complicated by maternalMarfan syndrome and by abnormal maternal fetal sonogram. Themother had characteristic features of Marfan syndrome with amarked scoliosis, typical facial appearance, mitral and tricuspid valveprolapse and a slightly dilated aortic root, tall stature andarachnodactyly. She was being treated for Marfan syndrome anddilated aortic root with atenolol, which was changed to propranololduring the pregnancy. Her father (the patient’s maternal grand-father) also has Marfan syndrome and had an aortic valvereplacement. The maternal grandfather’s sister also had Marfansyndrome and died at age 53 with a ‘heart problem’. Fetal maternalsonograms had suggested the presence of a left congenitaldiaphragmatic hernia. At delivery the child had Apgars of 2, 6 and7 at 1, 5 and 10 min, respectively. The child was mildly dysmorphicwith a long face and a somewhat ‘senile’ appearance, micrognathia,crumpled ears, and arachnodactyly. A cardiac sonogram demon-strated only a patent foramen ovale. He was intubated for 3 dayswith mild respiratory distress. An initial plain radiograph of the chestand abdomen (Figure 1) demonstrated what appeared to be a largehiatus hernia with intrathoracic stomach. After the patient wasextubated, an upper gastrointestinal series (Figure 2) was performeddemonstrating an nonobstructed intrathoracic stomach withorganoaxial volvulus. Subsequently on the 5th day of life the childhad repair of the hiatus hernia with intrathoracic stomach with aNissen fundoplication and gastrostomy.
DENOUEMENT AND DISCUSSIONThe patient has neonatal Marfan syndrome (nMS), presenting withan intrathoracic stomach. Marfan syndrome is an autosomaldominant connective tissue disorder, which rarely presents in theneonatal period.1 It is caused by mutations in the FBN1 genelocated on chromosome 15q21.1, which encodes the gene forfibrillin 1 glycoprotein, which is vital for normal elasticity orconnective tissues and homeostasis of elastic tissues.1,2 Thecriteria to diagnosis nMS are not well delineated, but nMSdescribes any child diagnosed with Marfan syndrome before theage of 1 year. Characteristic features include ‘aged’ facialappearance, micrognathia, pulmonary emphysema, megalo-cornea, crumpled ears and iridodonesis (eye movement causedby lens subluxation).1 Intrathoracic stomach and paraesophagealhernia are uncommon but well-described features of nMS.2–5
In fact, three features correlate with increased mortality innMS—diaphragmatic hernia, valvar insufficiency and mutationsin exon 25-26 of the FBN1 gene.6 nMS with valvar insufficiency has
a mortality of 82% before the age of 1 year.6 Hiatus hernia,paraesophageal hernia and intrathoracic stomach have all beenreported in nMS and are thought to be due to the abnormality ofgastric ligaments and diaphragm due to the fibrillin 1 mutation.2
Hiatus hernia with intrathoracic stomach requires that there mustbe lax gastrohepatic, gastrophrenic, gastrolienal and gastrocolicligaments and a large esophageal hiatus.4 nMS can be confusedwith Beal syndrome or congenital contractural arachnodactyly,which does not have ocular abnormalities and, in which heartdisease is uncommon, seen in only 15% of patients.1 Bealsyndrome is caused by mutations in the fibrillin 2 gene onchromosome 5q23-31. Connective tissues disorder should besuspected in neonatal hiatus hernia and has also been describedin Ehlers Danlos syndrome and cutis laxa.3 However, in this patientthe correct diagnosis was suspected because of the family history.
Expeditious surgical repair of the hiatus hernia and intrathoracicstomach or paraesophageal hernia should be undertaken to
Figure 1. Frontal supine radiograph of chest and abdomen showswith an endotracheal tube, umbilical venous catheter and nasogas-tric tube in place. The nasogastric tube ends in an air-filled viscus(between white arrows) above the diaphragm without obviousstomach in the left upper quadrant.
1Mallinckrodt Institute of Radiology, St Louis Children’s Hospital, 510 South Kingshighway Blvd, St Louis, MO, USA and 2Department of Pediatrics, Division of Neonatology,St. Louis Children’s Hospital, Washington University School of Medicine, St Louis, MO, USA. Correspondence: Dr TE Herman, Mallinckrodt Institute of Radiology, St Louis Children’sHospital Washington University School of Medicine, 510 South Kingshighway Blvd, St. Louis, MO 63110, USA.E-mail: [email protected] 3 January 2013; accepted 7 January 2013
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prevent complex volvulus, obstruction and strangulation.4 Break-down or dehiscence of the repair with recurrent hiatus hernia canoccured,1 as has been described in other surgery in patients withMarfan syndrome.7
Hiatus hernia and intrathoracic stomach have rarely beendescribed in adults with Marfan syndrome, although in these cases,the hernias may well have been present since the neonatal period.8,9
CONFLICT OF INTERESTThe authors declare no conflict of interest.
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Figure 2. Upper gastrointestinal series. (a) frontal radiograph of chest and upper abdomen with contrast in stomach and esophagus showinggastric body (GB) with the thoracic cavity, (b) oblique radiograph of chest and abdomen showing esophagogastric junction (curved arrow)below the GB. There is free flow of contrast from the stomach into the duodenal bulb (B) just below the diaphragm. (c) frontal radiographshowing an air-filled duodenum (D) and contrast in proximal small bowel. Again, note the esophagogastric junction (curved arrow) positionedbelow the GB.
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