Funding outcome

Some children are born with problems where they lose salts in their urine that are very important for growing healthy bones. One of these conditions is called X Linked Hypophosphatemia (XLH), caused by a gene problem where people lose phosphate in their urine. Phosphate loss can cause weak bones that bend or break, painful bones, and children's growth can be affected because of soft bones. Weak bones can change how the spine and brain form as they develop within growing bones. If bones do not grow properly, then the brain and spine may not grow properly either. This study is looking at brain and spine problems in children with XLH because some studies have suggested that this may be more common than previously thought. However, these earlier studies were not done with the proper imaging to look at brain and spine problems. The goal of this study is to show that spine and brain abnormalities are common in XLH, using the proper tests. Children and adults with XLH will be invited to have a brain and spine MRI and a brain CT. This study will provide a better understanding of brain and spine complications in people in XLH. This is important because these abnormalities can potentially cause significant complications like too much pressure in the brain. These abnormalities can pinch nerves as they leave the brain and spine, causing numbness, weakness, challenges speaking, and difficulty swallowing. This study aims to understand how often these abnormalities occur so that it can guide doctors to provide the best care for people with XLH and so that these abnormalities are identified before permanent damage is done to the brain and spine.