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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).

View larger version (91K): [in a new window]   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 a new window]   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 a new window]   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 a new window]   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 a new window]   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.

View larger version (105K): [in a new window]   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.