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Case 47: Dural Ectasia Associated with Marfan Syndrome¹

¹ From the Section of Human Genetics and Integrative Medicine, National Institute on Aging, National Institutes of Health, Bethesda, Md. Received May 19, 2000; revision requested June 16; revision received January 22, 2001; accepted February 6. Address correspondence to N.C.H., Section of Human Genetics and Integrative Medicine, Laboratory of Genetics, National Institute on Aging, National Institutes of Health and Johns Hopkins Institutions, Johns Hopkins Bayview Medical Center, 5600 Nathan Shock Dr, Rm 4A-01E, Baltimore, MD 21224-6823 (e-mail: honi@grc.nia.nih.gov).

Index terms: Diagnosis Please • Dura, MR, 36.1214, 36.1711 • Marfan syndrome, 36.1711

	HISTORY

TOP HISTORY IMAGING FINDINGS DISCUSSION REFERENCES

 
A 47-year-old woman presented with a 5-year history of intermittent episodes of excruciating back pain confined to the sacral area. There was no radiation of pain, but the right leg occasionally "gave way." The back pain usually resolved spontaneously with rest. Recently, she complained of urinary incontinence.

Findings at physical examination were as follows: joint laxity, bilateral iridodonesis, and decreased vibration sensation of the toes. During the course of her work-up, magnetic resonance (MR) imaging (Figs 1, 2), echocardiography (Fig 3), and slitlamp examination of the eye (Fig 4) were performed.

View larger version (91K): [in this window] [in a new window] [Download PPT slide]   Figure 1. Sagittal T1-weighted spin-echo MR image (416/8) of the lumbar and sacral spine reveals extensive dural ectasia (short arrow) beginning at the L5-S1 level, with expansion of the dura and thinning of the adjacent sacrum both anteriorly and posteriorly. There was mild lumbar scalloping (LS) (long arrow) of the posterior lumbar vertebral bodies.

View larger version (133K): [in this window] [in a new window] [Download PPT slide]   Figure 2. Transverse T2-weighted fast spin-echo MR image (3,000/96) shows that the dural ectasia (arrows) extended into the soft tissues of the lower back as well as into the presacral space. There was involvement of nearly all middle to upper sacral nerve root sleeves.

View larger version (154K): [in this window] [in a new window] [Download PPT slide]   Figure 3a. (a) Two-dimensional echocardiogram (longitudinal view) demonstrates a dilated aortic root, primarily involving the sinus of Valsalva. (b) M-mode echocardiogram reveals that the diameter of the aortic root at the level of the sinus of Valsalva was 4.2 cm. The aortic valve was normal.

View larger version (151K): [in this window] [in a new window] [Download PPT slide]   Figure 3b. (a) Two-dimensional echocardiogram (longitudinal view) demonstrates a dilated aortic root, primarily involving the sinus of Valsalva. (b) M-mode echocardiogram reveals that the diameter of the aortic root at the level of the sinus of Valsalva was 4.2 cm. The aortic valve was normal.

View larger version (92K): [in this window] [in a new window] [Download PPT slide]   Figure 4. Findings of slitlamp examination of the right eye demonstrated lens dislocation superonasally. Zonules were not visible, having ruptured previously, but a few tags that were attached to the lens at the 9-o’clock position were seen at biomicroscopy.

	IMAGING FINDINGS

TOP HISTORY IMAGING FINDINGS DISCUSSION REFERENCES

M-mode echocardiography revealed that the diameter of the aortic root at the level of the sinus of Valsalva was 4.2 cm (Fig 3b). The aortic valve was normal. Two-dimensional study demonstrated a dilated aortic root, which primarily involved the sinus of Valsalva (Fig 3a). The left ventricular size, wall thickness, contractility, and function were normal. The mitral valve showed mild prolapse of both leaflets at the coaptation point with no leaflet thickening. The left atrium, right ventricle, and pulmonary area were normal.

Ophthalmologic evaluation revealed iridodonesis, transillumination, and lens dislocation superonasally, as seen in the right eye (Fig 4). Zonules were not visible, having ruptured previously, but a few tags that were attached to the lens at the 9-o’clock position were seen at biomicroscopy.

	DISCUSSION

TOP HISTORY IMAGING FINDINGS DISCUSSION REFERENCES

 
The signs and symptoms in this patient, along with the imaging findings, indicated Marfan syndrome. This case illustrates the importance of considering dural ectasia in young and old patients with Marfan syndrome who have low back pain, radicular pain in the buttocks or legs, leg weakness, or urinary incontinence. Dural ectasia may be accompanied by spondylolisthesis, scoliosis, and vertebral erosions and/or fractures. This condition may be associated with an anterior sacral meningocele and may manifest as a pelvic mass. This patient was symptomatic, and neurosurgical repair of the dura was considered.

We define dural ectasia as dilatation of the dural sac, with the anteroposterior diameter of the thecal sac at the S1 level greater than that of the thecal sac at the L4 level. It is considered one of the major diagnostic criteria of Marfan syndrome because it is rare in the general population, and so far, it is found in a few specific disorders, that is, Marfan syndrome, Ehlers-Danlos syndrome, neurofibromatosis, ankylosing spondylitis, and osteogenesis imperfecta tarda (1–5). It may occur as a very unusual complication of spinal surgery or trauma.

On the basis of findings in three large studies (1,6,7), dural ectasia has been observed in 63%, 70%, and 92% of patients with Marfan syndrome. In these patients, the dilatation of the dural sac is almost always at the level of the lumbar region. Posterior scalloping of the vertebral bodies may or may not be associated with dural ectasia. Mild posterior scalloping of the lumbar spine can be demonstrated in about half of healthy adults (physiologic scalloping). Posterior scalloping can occur with intraspinal cysts or tumors and can also be found in conditions such as achondroplasia, mucopolysaccharidoses, acromegaly, neurofibromatosis, and hereditary connective tissue disorders (5).

Marfan syndrome is a multisystemic connective tissue disorder of autosomal dominant inheritance. The incidence is estimated to be 1 in 5,000 individuals with no predilection for any particular ethnic group or geographic background (8). The disorder shows complete penetrance but variable expression. The clinical diagnosis of Marfan syndrome depends on a combination of major and minor signs defined in the revised 1996 Ghent nosology (9), with the hallmark features noted in the following systems: (a) cardiovascular, including dilatation of the aortic root at the sinus of Valsalva and subsequent dissection of the ascending aorta; (b) ocular, with lens dislocation and myopia; and (c) skeletal, with patients manifesting tall stature, span greater than height, pectus carinatum or pectus excavatum, long slender limbs with arachnodactyly, and wrist and thumb signs (Fig 5) positive for the disease.

View larger version (105K): [in this window] [in a new window] [Download PPT slide]   Figure 5. Thumb and wrist sign frequently observed in patients with Marfan syndrome. The thumb sign is considered positive for Marfan syndrome if the hand is clenched and the thumb enclasped within is maximally opposed and protrudes beyond the ulnar border. The wrist sign is considered positive for the syndrome if there is overlapping of the distal phalanges of the first and fifth digits of one hand as they encircle the opposite wrist. These are subjective maneuvers that are helpful in determining the diagnosis. Arachnodactyly is a frequent feature of Marfan syndrome but may also be associated with other connective tissue disorders.

The diagnosis of Marfan syndrome can be difficult because of the wide variability of clinical signs, even within affected members of the same family, and the low specificity of many of the clinical signs (7). Although the gene for Marfan syndrome, FBN1, which encodes the microfibrillar protein fibrillin-1, was cloned in 1991 (12), mutational analysis is difficult and impractical at times. This difficulty in analysis is caused, in part, by the size of FBN1 (it is a huge gene comprising 65 exons), by the heterogeneity of mutations discovered thus far, and by the lack of specific mutational hot spots. Moreover, there are no molecular techniques that offer a highly sensitive mutation detection rate of FBN1.

MR imaging, with its noninvasive nature and technical superiority, proved to be the modality of choice for assessment of dural ectasia. It offers a contrast material–enhanced multiplanar view of the neural canal and clearly depicts the spinal anatomy. It facilitates the development of a grading system for assessment of severity of dilatation of the dural sac. In 1999, Fattori et al (7) categorized the degree of severity as follows: grade 0, normal; grade 1, mild dural ectasia with concomitant findings of small radicular cysts and/or lack of epidural fat at the posterior aspect of one vertebral body; grade 2, bulging of the dural sac with presence of large radicular cysts and lack of epidural fat at the posterior wall of two or more vertebral bodies; and grade 3, severe dilatation of the dural sac with an anterior sacral meningocele.

What is the natural history of dural ectasia? In one study (7), findings suggest that the severity is age related, which lends credence to the speculation that this abnormality arises as a consequence of an ongoing, pulsatile pressure of cerebrospinal fluid, which is highest in the lower lumbar and sacral neural canal with the patient in upright posture, on the progressively weakened, congenitally defective, dural wall (1,7,13).

Differential diagnoses of dural ectasia include congenital arachnoid cysts and growths of neurologic origins. When dural ectasia extends into the pelvis as an anterior sacral meningocele, it can mimic a pelvic mass of gastrointestinal, gynecologic, or genitourinary origin, which suggests a neoplasm. There have been several reports (14,15) of dural ectasia manifesting as an adnexal mass. The demonstration of an enlarged neural canal along the spinal column, especially in the lower lumbar and sacral regions, should alert clinicians to a diagnosis of dural ectasia and to be cognizant of the few specific disorders associated with this clinical finding. Dural ectasia is a sensitive and specific marker that can assist in confirmation of a diagnosis of Marfan syndrome in young patients (7) and in those with mild manifestations of this connective tissue disorder.

	FOOTNOTES

 
Part 1 of this case appeared 4 months previously and may contain larger images.

	REFERENCES

TOP HISTORY IMAGING FINDINGS DISCUSSION REFERENCES

 

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