by Dr. Chan Lowe » Mon Feb 18, 2008 8:06 pm
Hello Mermaid_g-ma,
Chediak-Higashi syndrome (CHS) is a genetic condition that affects many cells of the body, including the white blood cells. It is quite rare. You are correct that the body is constantly making new WBC's; however, the problem is that the genetic make up of the cells that become new WBC's is abnormal. As a result, all the new cells made are also abnormal.
Unfortunately, these children often will die early due to complications from infection or problems with the WBC's themselves. Those that survive tend to develop neurological problems as they get older.
The treatment of choice is a bone marrow transplant. The bone marrow holds the precursor cells that become WBC's. A bone marrow transplant replaces the genetically abnormal bone marrow cells with new, normal marrow cells that then produce normal white blood cells. Unfortunately, this fixes the immune problem but not the neurological problems, which often can continue to develop. At this point there is not a great treatment for this part.
Your grandson needs to be under the care of a pediatric hematologist that can help be sure that he is getting the correct care for this disorder.
I would also suggest that your son and daughter-in-law consider talking with a geneticist about this condition. It is an autosomal recessive disorder. This means that there is a 25% chance of future children also having this disorder. The geneticist can give them all the latest information and answer any questions about this that they may have.
I hope this helps some. Best wishes.
Advice and opinions given are based on the information provided and must not be used as an official medical recommendation. The limitations of the internet prevent an appropriate evaluation. Always consult your doctor if there is concern.
