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April 26, 2001

Diagnosis and Symptoms

Question from Mililani, Hawaii, USA:

My four year old son has CHARGE association (bilateral coloboma, duplication of right kidney, mental/growth/developmental retardation), epilepsy, and cerebral palsy (PVL). He also exhibits autistic-like tendencies (hand flapping, strict routine, over-sensitivity to textures/sounds/smells). He self-limits his diet to water, macaroni and cheese, mashed potatoes, oatmeal, pop-tarts and pudding. Every night he eats two puddings before bedtime. Occasionally, when he doesn't eat before bed, he will wake up the next morning lethargic (kind of just lying around), be very thirsty (he normally drinks lots of water, which I have attributed to his taking Tegretol), have a slight temperature and will throw up. After he throws up, he seems to be normal, and will often say "eat" after vomiting. After throwing up, then eating something, he is back to normal. I have mentioned this to his doctor, who was not really concerned about it. My husband's father has diabetes (I'm not sure what type, but he doesn't take insulin). The doctor seems to attribute this vomiting behavior to his other medical problems, but I think his has more to do with the fact that he is not eating as he usually does before bed. I read a few posts where you discussed the "dawn phenomenon". Do you think I am right in asking his doctor to reconsider his assessment?

Answer:

I think that your son’s doctor is probably right and that the occasional vomiting episodes are in some way part of the complex and poorly understood CHARGE association syndrome. The story doesn’t resemble the dawn phenomenon which is really one of overnight hypoglycemia caused by too much insulin with a resulting counterregulatory correction giving rise to high morning blood sugars. Its importance is that the high blood sugars may be interpreted as insufficient insulin with the result that the dose is increased when the opposite should occur.

In addition, I could find no report of an association between CHARGE and any form of childhood diabetes. At all events, I don’t think that your son has diabetes. I sense that these episodes are not a major problem and that it probably wouldn’t be justified to pursue it further in an NIH supported Clinical research Center. However, but to set your mind at rest, you might ask your son’s doctor for a few test strips to look for sugar in the urine.

DOB