Background: Marfan syndrome is an autosomal dominant genetic disorder with skeletal, cardiac, and ocular involvement. Mutations in the fibrillin-1 gene on chromosome 15 are responsible for the development of the syndrome.
Objective: To present one case of neonatal Marfan syndrome.
Case: The patient was a 1-day-old female neonate who was born at 36 weeks gestation via normal delivery. Her body weight was 2900 g and height 48 cm. Ultrasonographic examinations reported megacisterna magna. Several bizarre appearances of the neonate were noted: dolicocephaly, arachnodactyly, pigeon chest, rigidity, and contracture of bilateral elbows and knees. Large ear lobes, enophtalmos, micrognathia, and high palate were evident. Forehead skin was redundant. The abdomen was soft. Her cariotype was normal 46,XY. Also, grade II/VI systolic murmur over left lower sterna border was found. Chest X-ray showed cardiomegaly. Echocardiography revealed interauricular communication Ostium Secundum and dysplasic mitral valve with mild mitral and aortic regurgitation. Brain sonographic examination confirms megacisterna magna. She needs continuous enteral nutrition from 10 months of age. We treated the patient with diuretics and ACE inhibitor due to the detection of congestive heart failure. Digoxin was prescribed to prevent the state becoming worse. However dilatation of aorta, mitral regurgitation, tricuspid regurgitation, aortic regurgitation, and congestive heart failure got worse progressively. In two different occasions she needs hospital admission for respiratory infections. Unfortunately the patient expired due to severe congestive heart failure at 14 months of age due to a rotaviruses gastroenteritis.
Results: After consulting geneticist, neonatal Marfan syndrome was impressed, molecular studies detected the presence of the heterozygote mutation c.3203G (p.Cys 1068Tyr) in the 25 exons, that confirmed the diagnosis. Familiar molecular study confirmed de novo mutation.
Conclusions: Marfan syndrome is rarely presented in the neonatal period, is the worst phenotype of this disease and has a poor prognosis. The estimated life expectancy is about 12 months.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology