Dural ectasia

Most common symptoms include lower back pain,[2] headaches,[2] weakness,[2] numbness (anesthesia) above and below the involved limb,[2] leg pain,[3] and sometimes there can be rectal[2] and genital pain.[2] Bowel and bladder dysfunction, urinary retention or even incontinence may occur. [4]

The symptoms are usually exacerbated by upright posture and often but not always relieved by lying down. However, in many patients it is asymptomatic.

It is common in Marfan syndrome,[3] occurring in 63–92% of people with the syndrome.[5] Dural ectasia may also occur in Ehlers-Danlos Syndrome,[1] neurofibromatosis type I,[1] ankylosing spondylitis,[1] and trauma.

In neurofibromatosis type I it has been theorized that local infiltration of the dura by plexiform neurofibromas leads to a weakening of the dural allowing the outpouching. A retrospective study found that a majority of dural ectasia were associated with nearby plexiform neurofibromas. [6]

Diagnosis is usually conducted by MRI or CT Scan.

Dural ectasia can be asymptomatic, in which case no intervention is necessary. However, it is associated with chronic pain in patients with Marfan syndrome, suggesting it is a structural risk factor [7] There is no medical consensus on how to manage symptomatic (painful) dural ectasia. The majority of patients are treated conservatively with pain control medications, physiotherapy, and other physical modalities, with often incomplete control of patients' pain. [8] [9]

Though various websites on the internet report that acetazolamide can be used to treat dural ectasia in individuals with Marfan Syndrome, the only supporting evidence for this assertion exists from a small study of 14 patients which was not peer-reviewed or submitted for publication.[10][11] Moreover, several published cases of intracranial hypotension related to Marfan syndrome would warrant caution in using acetazolamide in these patients unless there is a clear indication, as it could lower intracranial pressure further. [12]