Dural ectasia as presenting symptom of Marfan syndrome.

• Vol 10 • March 2008 194 Marfan syndrome is a genetic, dominant, systemic connective tissue disease with variable clinical features, some of which are life threatening. The prevalence is 1:10,000 live births [1]. The syndrome results from mutations in the FBN1 gene, on chromosome 15, which encodes for the fibrillin 1 protein. Fibrillin is an important compound in the extracellular matrix and the main structural protein in microfibers of elastin [2]. There is a second gene of fibrillin, the FNB2 gene, which is responsible for the congenital contractural arachnodactyly, known as Beals syndrome [3]. In 2005 Loeys and Dietz described an autosomal dominant disease similar to Marfan syndrome (aortic aneurysm, dural ectasia, drum stick fingers), which is the result of mutations in the transforming growth factor-beta receptor (TGFBR)-1 and TGFBR2. However, there are several features specific to this disorder, such as hypertelorism, craniosynostosis, cleft palate, double or huge uvula, and large convoluted arteries [4]. The structural defect in the fibrillin 1 protein is the cause of Marfan syndrome features like the cardiovascular system pathology, and skeletal, ocular and central nervous system manifestations [5]. Since 1996 the diagnosis of Marfan syndrome has been based mainly on symptoms and according to the Ghent nosology [6]. Dural ectasia is considered one of the major criteria in the Dural Ectasia as Presenting Symptom of Marfan Syndrome