My nephew was just diagnosed with a rare condition called Cobb's syndrome. Can you tell me what this is?
This disorder was first described in 1890. It became more widely known when a physician by the name of Cobb reported it in 1915. As you already know, Cobb syndrome is a rare disorder. It is not genetic or inherited. Males seem to be affected more often than females. There are less than 40 cases reported.
It involves spinal angiomas or arteriovenous malformations (AVMs). Angiomas are benign tumors that are made up of small blood vessels. They are usually seen on the skin and look like port wine stain birthmarks.
AVMs are a tangle of blood vessels made up of arteries and veins. There are abnormal connections instead of the normal tiny capillaries that connect arteries to veins. The AVM is often very fragile and prone to bleeding.
The birthmarks are a red flag that there may be a problem in the spinal cord. Patients with this condition may not have any symptoms. But bleeding from angiomas or AVMs in this area can result in muscle weakness or paralysis.
Early detection and treatment is the key to avoiding serious consequences of this condition. If the abnormal blood vessels are bleeding, the surgeon can stop the bleeding with a procedure called embolization.
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