Juvenile Paget disease

Juvenile Paget disease is a disorder that affects bone growth. This disease causes bones to be abnormally large, misshapen, and easily broken (fractured). The specific signs and symptoms and the severity of the condition can vary among affected individuals.

The features of juvenile Paget disease appear in infancy or childhood. As bones grow, they become weaker and misshapen. These abnormalities usually become more severe during the adolescent growth spurt, when bones grow very quickly.

Juvenile Paget disease affects the entire skeleton, resulting in widespread bone and joint pain. The bones of the skull tend to grow unusually large and thick, which can increase the size of the head (circumference). The abnormal growth of the skull bones can damage the bones in the ear, leading to hearing loss. The disease can also cause an abnormal curvature of the spine (kyphosis). Additionally, the weight-bearing long bones in the legs tend to bow and fracture easily, which can interfere with the ability to stand and walk.

Other features of juvenile Paget disease can include short stature; developmental delays; dental problems, such as the delayed appearance (eruption) of teeth or the early (premature) loss of teeth; and vision problems, which can include abnormalities of the light-sensing tissue at the back of the eye (retina). Affected individuals may also have an abnormal accumulation of calcium (calcification) in the walls of blood vessels. Rarely, people with juvenile Paget disease have a bulge (aneurysm) in the wall of the vessel that carries blood to the brain, face, and neck (internal carotid artery). If an aneurysm grows large, it can burst and cause dangerous bleeding.