My son of 3 1/2 years old has been discovered to be diabetic (insulin-dependent) at the age of 2 1/2. Things are getting quite well; everybody has progressively learned to live with it.
We noticed on the other hand that he's making very slow progress in using his legs (running, getting up and down the stairs, etc.). Comparing to other kids of his age he's relatively far behind, and not very active. On the other hand, he's very good when it comes up to use the upper part of his body (using his arms, hands and fingers). It is true that he already took his time to simply get up and walk (only about 22 months), and at that time the doctor told us not to worry, that he was just needing more time than someone else, nothing to worry about.
But now that we are having the diabetic problem, worries are showing up again. And of course every new problem of the kid is now instinctively related to his diabetics, not only by us but also by the medical team. Anyway, the endocrinologist has send us to a pediatric neurologist, which started with complete blood analysis and an electromyography. EMG was OK. The only particular thing they have found in the blood is an abnormal high level of lactic acid.
Important is that the child is not suffering from that, he feels good most of the time, he has not got any special ketone problems (only by very small periods when he stayed to high for a few days). None of the periodic blood and other tests (every 2 months) have delivered till know an indication about his normal body functions getting into trouble.
Since the medical team has no explanation for this abnormal level of lactic acid (they can not even say if their is a relationship with his diabetics) they want to go further in the investigation, by doing a puncture of the spinal marrow. As this is a very painful intervention and the kid already has his regular doses of medical suffering, we told the team that we were taking a break before going any further. We have to be sure that it can be somewhat useful, otherwise this has no sense.
To put my question in short: is their a link between a too high level of lactic acid, a hypotonic child and his diabetics? Which are the possible directions for further investigation?
Kind regards and thanks for your magnificent initiative.
The story sounds like an example of a rare form of diabetes, mitochondrial diabetes, specifically one called A3243G MELAS Mitochondrial DNA mutation in which there is insulin sensitive diabetes, hypotonia and lactic acidemia. Insulin works fine for the diabetes; but treatment has been disappointing for the other symptoms although there have been some hints that creatine may help. A precise diagnosis requires rather special laboratory experience. If you can digest some rather heavy biochemistry, the subject is reviewed in the lead article of the February, 1996 issue of Diabetes.
Original posting 16 Aug 96
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