Doctors from Shriners Hospital for Children in Philadelphia, Pennsylvania present the case of an 11 year-old child with Cobb Syndrome. Because this is such a rare condition, the child was diagnosed with a virus, back strain, and Guillain Barré syndrome before the Cobb syndrome was finally recognized.
The child was born with a large birthmark over his left thoracic spine but there were no other symptoms until he was much older. He eventually developed sharp stomach pain that went into his back. He was an active soccer and basketball player, so at first, the diagnosis was muscle strain.
X-rays and CT scans were negative. With loss of strength and sensation in his legs, he was then diagnosed with Guillain Barré syndrome. Guillain Barré is a viral-caused neurologic condition. MRIs of his spine finally showed the arterovenous malformation (AVM) typical of Cobb syndrome.
AVM is a tangle of arteries and veins with abnormal connections. In the case of this child, there was a large leaking aneurysm. An aneurysm is a thin, weak spot along an artery that can leak or burst. In either case, bleeding and even hemorrhaging can occur.
For this child, the loss of blood supply to his spinal cord resulted in paralysis. By the time it was discovered, he had permanent damage to his spinal cord. Even with treatment, he only regained part of his strength and sensation. He still has weakness, loss of pain or pressure, and no bowel or bladder control.
The authors advise physicians to pay attention to large birthmarks on babies. They may be benign and go away in time. But if any back pain or neurologic symptoms occur, an MRI of the spine must be done right away.