Neuro Disorders: Marfan Syndrome


Marfan Syndrome is a genetic disease and belongs to the category of connective tissue disorders. These diseases may involve the nervous system as well.

Connective tissues like collagen & elastin are very vital structures related with formation of a matrix for the tissues & organs and provide them support & strength. They also help in linking these tissues & organs.

Since these connective tissues are ubiquitous in the body their disorder can present with myriad disease conditions.

What causes Marfan’s?

In the above syndrome it is the collagen type of connective tissue that is affected. This results from an AD (autosomal dominant) type of inheritance. AD means the child may get this disease even if only one of the parents is affected. Also each child has about 50% chance of contracting the disease.

The gene that is abnormal in this case is called as FBN1. This gene codes for the production of a protein called as fibrillin. Since fibrillin is not properly synthesized the collagen fibers are abnormal and this turn causes dysfunction of any tissue or organ in the body that requires collagen.

Clinical Presentation

Both men & women are affected. Children are affected too. A person from any race or ethnicity can get this disease.

Many different organs may be involved and parallel to that variety of clinical conditions and manifestations are seen including;

• very tall stature
• long and slender limbs and fingers
• Eye lens dislocation
• Cataracts
• Skeletal abnormalities (pectus excavatum etc)
• Dilatation of aortic roots
• Mitral valve prolapse
• Pneumothorax etc

The following neurological conditions may be seen;

• Dural ectasia around the spinal cord
• Spine abnormalities like kyphosis, scoliosis
• Sleep disorders like apnea syndrome
• Carotid and/or vertebrobasilar dissection
• FMD (fibromuscular dysplasia) may occur in Marfan’s patients and again present with dissection

• Rare neuropathy (nerve diseases)
• Rare myopathy (muscle diseases) etc


The diagnosis is made mostly based on clinical criteria and certain investigations like Echocardiogram, eye examination etc. Genetic tests are available but not yet fully dependable.

A skin biopsy although may show abnormalities but not reliable as this organ is not always involved. Conjunctival biopsy may be more reliable especially when there is dislocation of the eye lens but still not routinely used.


There is no cure for this disease so treatment is focused on symptomatic and supportive aspects. Cardiac and aortic involvement is the most serious issue & life threatening so a thorough evaluation & management in this regard is of paramount importance.

A neurologist is frequently involved in the care of patients with Marfan Syndrome when there is involvement of the nervous system.

From Marfan Syndrome to Neurology Articles


Share this page:
Enjoy this page? Please carry it forward. Here's how...

Would you prefer to share this page with others by linking to it?

  1. Click on the HTML link code below.
  2. Copy and paste it, adding a note of your own, into your blog, a Web page, forums, a blog comment, your Facebook account, or anywhere that someone would find this page valuable.