Neurology

Question 1

What are the key skeletal features of Marfan Syndrome?

Answer 1

• Tall stature with long limbs (arm span > height)
• Arachnodactyly
• Pectus excavatum or carinatum
• Scoliosis or kyphosis
• Joint hypermobility
• High-arched palate
• Flat feet (pes planus)

Question 2

What are the characteristic ocular features seen in Marfan Syndrome?

Answer 2

• Ectopia lentis (superotemporal lens dislocation)
• Myopia
• Increased risk of retinal detachment, early cataracts, and glaucoma

Question 3

What cardiovascular abnormalities are common in Marfan Syndrome?

Answer 3

• Aortic root dilatation → risk of aneurysm/dissection
• Aortic regurgitation
• Mitral valve prolapse ± regurgitation
• Sudden cardiac death in severe cases

Question 4

Name the pulmonary features of Marfan Syndrome.

Answer 4

• Spontaneous pneumothorax
• Apical blebs on imaging
• Restrictive lung disease from skeletal deformities

Question 5

What are the notable skin and other systemic features of Marfan Syndrome?

Answer 5

• Stretch marks (not due to weight change)
• Dural ectasia (ballooning of dural sac on MRI)

Question 6

What are the major complications of Marfan Syndrome?

Answer 6

• Aortic dissection (most life-threatening)
• Heart failure (valvular disease)
• Sudden death (often exertional)
• Pneumothorax
• Vision loss

Question 7

How is Marfan Syndrome managed?

Answer 7

• Regular echocardiography
• Beta-blockers or ARB (losartan) to reduce aortic stress
• Prophylactic surgery for aortic dilation
• Ophthalmologic follow-up
• Avoid strenuous activity/contact sports