September 2, 2000
Diagnosis and Symptoms
Question from Hawaii, USA:
My four year old son was diagnosed with CHARGE association, epilepsy and cerebral palsy at age six weeks. He normally drinks a lot of water, which I attributed to his taking Tegretol to control seizures. As a result, he also urinates frequently. He drinks nothing but water, and self-limits his diet (Pop Tarts, oatmeal, pancakes, mashed potatoes, macaroni and cheese, canned pasta, and peanut butter and jelly sandwiches). Every so often, within the last two years, he will wake up one morning not wanting to eat anything all day. However, he continues and sometimes increases the amount of water he drinks. Sometimes he has seizures. Sometimes he vomits (usually nothing but water). Then after vomiting, he will indicate he is hungry. He shows no other signs of being ill and often is fine after vomiting. Today was one of those days where he just woke up with no appetite but would not stop drinking water. The school called to say he was extremely lethargic and wanted to do nothing but lie down, and had no signs of illness. When I went to pick him up, he was trembling and felt a little cold, but refused to eat his snack or drink water. When he came home, he ate lunch as normal and was fine. I should also add that he has been diagnosed with duplication on the right kidney, and aside from the seizures and retardation of growth and development. He really has no other medical problems. My husband’s father has diabetes. Could my son also have diabetes? When these problems occur and I bring it up with my son’s doctors (we are a military family, so we don’t really have a regular doctor, just whoever is available the day we come in), they seem to just attribute it to a virus. Does this sound like something in the diabetes family or just a complication from the conditions he already has?
Answer:
The story does not sound like diabetes mellitus of any kind, nor could I find any reports in the medical literature that linked CHARGE Association genetically to diabetes. It would be very easy though to set your mind at rest by testing for sugar in the urine, something that takes only a few seconds. If his urine is consistantly very dilute though it might also be a good idea to do a fasting blood sugar. Again, a very simple test that could probably be done in any pediatric clinic. The kind of diabetes that your husband’s father has is also very unlikely to be the same as anything that might present in a four year old.
I sensed, but may have got it wrong, that your son needs an undue amount of water to drink. This made me wonder if part of his neurological problem is due to diabetes insipidus, a defect in concentrating urine that may either lie in the brain or the kidney. Again this doesn’t seem to be specifically linked to the main syndrome, but it might be worth asking the doctor about at the next visit because it would be one small component that might be treated.
DOB
