Monday, December 30, 2013

Paganini and Rachmaninoff

Panel A is normal; panel B represents the patient; panel C is a variant.

These are images from a tall young adult with scoliosis and history of pneumothorax.

Challenge: What an awesome collection of pictures demonstrating this autosomal dominant disease - what is it?

Images shown under Fair Use.


fiendbyname said...

Looks like Marfan's to me.

Craig Chen said...

nice job with identifying the images!
Paganini and Rachmaninoff

This is Marfan syndrome (the musicians for which this case is titled were thought to have it). Aortic root disease leading to aneurysmal dilatation, aortic regurgitation, and dissection is the primary cause of morbidity and mortality. The chest X-ray shows hyperinflation, bullous changes, a dilated tortuous aorta, and “tall” lungs. The CT shows aortic root dilation at the sinuses of Valsalva; examples are also seen in the echocardiograms. The slit lamp photomicrography shows ectopia lentis with microspherophakia; the lens is luxated into the anterior chamber.

Source: UpToDate.