This is a straight forward senario, this young lady has Marfan syndrome.
First picture - tall and thin build young lady with disporpotionately long arms and legs
Second picture - high-arched palate
Third picture - left eye showing superotemporal subluxation of the lens.
It is not difficult to get the diagnosis of Marfan syndrome as the features are quite prominent. What the examiner want to see is how you take history and perform physical examination to confirm your diagnosis and look for any possible complications of the disease. Of course, not to forget to answer to patient's concerns.
History:
- Family history
- Symptoms of heart failure
- Eye problem
Physical examination:
- Noted tall patient with arm span exceed the height
- Hands – thumb sign and wrist sign
- Eyes – vertical subluxation, myopia
- Head – long headedness
- Palate – high-arched
- Chest – pectus excavatum, cystic lung disease
- Heart – MVP, AR
- Spine – kyphosis and scoliosis
There are few systems that are involved in Marfan syndrome, therefore you have to be systematic when you perform physical examination. The only way to be smooth and systematic in the exam is by practising a lot. Get a member in your group to be the simulated patient and practice the flow on him/her. This is particular useful in cases with multiple systems involvement and neurology cases.
Investigations
Echocardiography, chest and spine radiography, CT/MRI
Management
- Yearly echo – monitor aortic diameter and mitral valve function
- Ophthalmology and orthopaedics referral
- Genetic counseling
A few useful websites:
1. Diagnostic criteria
http://www.marfan.org/cms/uploaded_files/8XJIUG81F3/89/docs/factsheet_mfsbodysystem.pdf
2. National Marfan Foundation
http://www.marfan.org/marfan/
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