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Dural Ectasia in Marfan Syndrome: a Case Control Study

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Dural Ectasia in Marfan Syndrome: a Case Control Study Published May 20, 2009 as 10.3174/ajnr.A1620 Dural Ectasia in Marfan Syndrome: A Case ORIGINAL RESEARCH Control Study R. Lundby BACKGROUND AND PURPOSE: Dural ectasia (DE) is one of the major criteria of Marfan syndrome S. Rand-Hendriksen (MFS). Our aim was to establish the prevalence of DE in an adult population fulfilling the Ghent criteria for MFS and to assess definitions of DE. J.K. Hald F.G. Lilleås MATERIALS AND METHODS: One hundred five adults with suspected MFS were included. MR imaging A.H. Pripp at 1.5T was performed unless contraindicated; then CT was obtained. Lumbosacral anteroposterior vertebral body diameters (VBD) and dural sac diameters (DSD) were measured. Dural sac ratios S. Skaar (DSR ϭ DSD/VBD) at levels L3 through S1 were calculated. Anterior meningoceles, herniations of B. Paus nerve root sleeves, and scalloping were characterized. One hundred one sex- and age-matched O. Geiran patients were included as controls. H.-J. Smith RESULTS: We identified 3 patient groups: 1) fulfilling Ghent criteria independent of DE (n ϭ 73), 2); fulfilling Ghent criteria dependent on DE (n ϭ 14), and 3); and suspected MFS, not fulfilling Ghent criteria (n ϭ 18). DE was found in 86% of group 1. At levels L4-S1, mean DSRs were significantly higher in group 1 than in group 3 and controls (P Ͻ .001). Herniations of the nerve root sleeves were present in 73% in group 1 versus 1% in controls. Anterior meningoceles were found in 37% and 14% in groups 1 and 2, respectively, but not in group 3 or controls. CONCLUSIONS: The diagnosis of DE on MR imaging or CT should be based on the presence of at least 1 of the following criteria: anterior meningoceles or nerve root sleeve herniation, DSD at S1 or below larger than DSD at L4, and DSR at S1 Ͼ0.59. arfan syndrome (MFS) is an autosomal dominant disor- or spinal nerve root sleeves, usually associated with bony ero- Mder of connective tissue. Life expectancy is generally re- sions of the posterior vertebral body.3 duced in these patients, mainly due to progressive dilation and Although a number of articles about MFS have presented dissection of the aorta. Other manifestations include disloca- methods on how to assess DE by using conventional x-ray 4-7 tion of the lens and skeletal deformities. Early diagnosis, fol- films, CT, and MR imaging, no gold standard for the diag- SPINE low-up, and treatment are important to prolong life and re- nosis of DE has emerged. A number of radiologic features of DE duce disability. have been suggested, including anterior meningoceles, hernia- The diagnostic process to identify patients with MFS is tions of the dura along the nerve root sleeves,4 wider dural sac at challenging because it is based on the Ghent criteria,1,2 which S1 compared with L4,4 and elevated dural sac ratios (DSR) (ie, the requires the assessment of a number of clinical, genetic, and ratio between the dural sac diameter [DSD] and the vertebral ORIGINAL RESEARCH radiologic features. In addition to exploration of the dura ma- body diameter [VBD] at the same level).6 ter, the diagnosis is based on findings in the skeletal, ocular, Although some MFS studies have included controls with cardiovascular, and pulmonary systems, the skin and integu- respect to DE, these control groups, with 1 exception, tended ment, a family history, and mutations in the gene encoding for to be small; they have not been sex- and age-matched; and they fibrillin 1 (FBN1). Mutations in the FBN1 gene are also found have included patients with low back symptoms.6-10 The im- in individuals not fulfilling the Ghent criteria; consequently, pact of DE in the diagnostic process of MFS has been discussed the diagnosis is still based on other criteria as well as genetics. in several articles.4,6,8-13 However, in most studies describing Dural ectasia (DE) is one of the major criteria of MFS in the cohorts of patients with MFS, the patients have not been ex- Ghent nosology and has been defined as “enlargement of the amined for DE,14 in spite of the fact that DE is seen in a high neural canal anywhere along the spinal column, but nearly percentage of patients with this syndrome. The incidence of always in the lower lumbar and sacral regions; thinning of the DE in patients fulfilling the Ghent criteria (Ghent-positive pa- cortex of the pedicles and laminae of the vertebrae; widening tients) has been reported to be from 63% to 92%.6-8,11,13 1 of the neural foramina; or an anterior meningocele.” DE is a major diagnostic feature for MFS but has also been A more recent definition of DE is widening of the dural sac reported in patients with scoliosis, neurofibromatosis,15 anky- losing spondylitis,16,17 and Ehlers-Danlos syndrome,7 as well Received January 8, 2009; accepted after revision March 11. as following trauma. Recently, DE has been found in persons From the Department of Radiology (R.L., J.K.H., S.S., H.-J.S.), Section of Biostatistics, with mutations in the genes TGFBR1 and TGFBR2, some of Research Services Department (A.H.P.), and Division for Cardiac and Respiratory Medicine and Surgery (O.G.), Oslo University Hospital, Rikshospitalet, Oslo, Norway; TRS National these individuals fulfilling the Ghent criteria, and some 18-20 Resource Centre for Rare Disorders (S.R.-H.), Sunnaas Rehabilitation Hospital, Nesoddtan- not. Thus, it may be argued that DE is a sign of inherited gen, Norway; Curato A/S (F.G.L.), Oslo, Norway; Department of Medical Genetics (B.P.), connective tissue disorders. In line with this, DE was not iden- Oslo University Hospital, Ullevaal, Oslo, Norway; and Faculty Divison Rikshospitalet (R.L., tified as an incidental finding in a study concerning MR imag- S.R.-H., O.G., H.-J.S.), University of Oslo, Oslo, Norway. ing of the lumbar spine in persons without back pain.21 Please address correspondence to Rigmor Lundby, MD, Department of Radiology, Oslo University Hospital, Rikshospitalet, Sognsvannsveien 20, NO-0027 Oslo, Norway; e-mail: By investigating the morphology of the lumbosacral spine [email protected] of 105 adults with MFS or suspected MFS and 101 sex- and DOI 10.3174/ajnr.A1620 age-matched controls, we aimed, in this case control study, to AJNR Am J Neuroradiol ●:● ͉ ● 2009 ͉ www.ajnr.org 1 Copyright 2009 by American Society of Neuroradiology. establish the prevalence of DE in a cohort of patients fulfilling the Ghent criteria for MFS and to find the best criteria for assessment of DE. Materials and Methods The study was approved by the regional medical ethics committee; and for the purpose of informed consent, only patients older than 18 years of age were included. Study Population The participants in the study were recruited either by an invitation letter sent to the 134 individuals older than 18 years of age registered in a national resource center as having MFS; by advertisement in the Journal of the National Association of Marfan Syndrome and Other Marfanlike Conditions, asking for persons having the diagnosis of MFS; or through invitations distributed in the Department of Tho- racic and Cardiovascular Surgery at our hospital to patients suspected of having MFS. Age was the only exclusion criterion. Fig 1. Sagittal T2-weighted MR image of a patient with MFS showing a huge anterior A total of 109 individuals gave their informed consent for partic- meningocele herniating into the pelvis through a large sacral defect (arrows). The urinary bladder (asterisk) is compressed anteriorly. ipation. One patient died before the study started, 1 was not able to attend while living abroad, and 2 participants withdrew. Conse- ittal and coronal short-inversion-time inversion recovery sequences quently, the study population consisted of 105 persons (67 women; (TR/TI/TE ϭ 4300/150/34 ms). Section thickness and gap were 4 and Ϯ 20–69 years of age; mean, 41.3 12.8 years; and 38 men; 19–62 years 0.5 mm for sagittal images and 7 and 1 mm for coronal images, of age; mean, 36.5 Ϯ 10.8 years). Before inclusion, 90 had been given respectively. a diagnosis of MFS and 15 were suspected of having the diagnosis. All participants were white. Evaluation Everyone in the study group was assessed for all parts of the Ghent The control and study populations were compared in aggregate. Con- criteria1,2 by the same group of physicians. The assessment included sensus readings of all imaging studies of the patients with MFS were sequencing of the entire coding region of the gene FBN1 and a search performed by 1 neuroradiologist (R.L.) unaware of the clinical infor- for large deletions or duplications.22,23 mation and 1 specialist in rehabilitation medicine (S.R.-H.) aware of the clinical information. Consensus interpretations of the controls Control Population were obtained by 2 neuroradiologists (R.L. and J.K.H.). A third radi- The control subjects were chosen from the pool of patients in the ologist (S.S.) assessed all the above studies for interobserver radiologic archive (PACS) of the department of radiology on the basis agreement. of the following criteria: sex- and age-matched asymptomatic persons with respect to the lumbosacral spine and without any known con- Measurements and Definitions nective tissue disease or compression fractures, screened with MR An anterior sacral meningocele was diagnosed when a herniation of imaging for malignancy in the lumbosacral spine, but with no evi- the dural sac through a defect in the anterior surface of the sacrum was dence of malignant disease in this area.
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