Clinical History
A 27-year-old female patient with Marfan syndrome presented for a follow-up evaluation of aortic root dilatation.
Imaging Findings
A 27-year-old female patient known to have Marfan syndrome was seen on follow-up by her cardiologist. Her sister was also affected, and her mother was also suspected of having the condition. A
cardiovascular examination was done, which was normal and the ECG which was obtained was also within normal limits. A Doppler echocardiographic examination showed a structurally normal heart. There
was no mitral valve prolapse or regurgitation, and the aortic valve was normal. The aortic root was a little dilated with a measurement of 3.9 cm at the level of the sinus, and 2.7 cm at the hinge
point of the valve. A follow-up MR was performed, and it confirmed the aortic root dilatation with a measurement of 4.2 cm at the level of the sinuses (Fig. 1). Dural ectasia associated with
meningocoele at the level of the sacrum (S1–S4) was an incidental finding (Fig. 2). T1- and T2-weighted sequences were applied in the sagittal and coronal planes to study this abnormality.
Localisation and imaging findings suggested the diagnosis of dural ectasia and an intra-sacral meningocoele associated with Marfan syndrome.
Discussion
Marfan syndrome is an autosomal dominant, familial disorder of the connective tissue that is characterised by a highly variable manifestation of ocular, skeletal, cardiovascular, integumentary,
pulmonary, and neurological features. The specific pathophysiology is unknown. Life expectancy is generally reduced in patients with Marfan syndrome, mainly because of cardiovascular complications
such as dilatation, dissection and rupture of the aorta. The other complications that occur are muscular hypoplasia and hypotonicity, foot and hand abnormalities including arachnodactyly, and
scoliosis or kyphoscoliosis. Dural ectasia is defined as a ballooning of the dural sac which is more common in patients with connective tissue disorders such as Marfan syndrome, and may develop
gradually during childhood, adolescence, or even adulthood. It can be associated with the presence of meningocoeles. An MR examination is of great value in the diagnosis of meningocoeles, by showing
a homogeneous high signal intensity of the cystic contents on T2-weighted images, and the relationship with the bony structures of the spinal canal. Dural ectasia normally does not cause symptoms,
but increased life span as a result of increased survival of patients with aortic complications, may result in an increase in the prevalence of dural sac-related symptoms in these patients. The
clinical manifestations depend on the location and the effect on surrounding organs and nerves, but in this case, there were no related symptoms. In symptomatic patients, surgical intervention can be
necessary.
Differential Diagnosis List
Marfan syndrome with dural ectasia and sacral meningocoele.
Final Diagnosis
Marfan syndrome with dural ectasia and sacral meningocoele.