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August 4, 2000

Diagnosis and Symptoms

Question from Bartlesville, Oklahoma, USA:

My youngest son, who will be 3 years old in a few months, is suspected of having type one diabetes. He is multi-handicapped with multi-system involvement causing chronic illness. Three weeks ago, he began exhibiting signs of sudden onset diabetes with polyuria, polydipsia, irritability, tachycardia and high blood sugars. When I took him to the pediatrician, he ordered a serum acetone test (it was negative) and a hemoglobin A1c to determine if he does, in fact, have diabetes. The hemoglobin A1c came back within normal limits (5.4 percent), but he is still exhibiting signs of diabetes. He has a series of lab tests done every week and his potassium, sodium, and bicarbonate are low when the blood sugar is above 200 mg/dl (11.1 mmol/L). His urinalysis shows a pH value of 8.5, specific gravity is 1.000, there is almost always glucose in the urine, and occasionally ketones. Is the hemoglobin A1c a definitive diagnostic test? Should we request a consult with a pediatric endocrinologist or accept the hemoglobin A1c results to mean he does not have diabetes? His blood sugars, for the most part, range from 120 to 380 mg/dl (6.7 to 21.1 mmol/L). taken at variable times. He is feed every three hours via gastrostomy button a very specialized elemental formula that cannot be changed at this time due to a rare gut disease.


With random blood sugars that are usually above 200mg/dl (11.1mmol) and from time to time above 300mg/dl (16.7mmol), I think that your son has diabetes. In an otherwise healthy Caucasian 3 year old the most likely diagnosis would be Type�1A (autoimmune) diabetes which could be confirmed by an antibody test: call 1-800-425-8361 for more details.

The normal A1c test could be explained by the fact that the overt glucose intolerance has been fairly recent. However the minimal evidence of ketones and some of the other findings such as the low specific gravity in the urine suggest that he might have a very rare form of diabetes (1:750,000) called Wolfram’s Syndrome or DIDMOAD. This is represented by a combination of Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness. The components can be very variable in the rate at which they develop and forms of kidney involvement are reported together with a variety of neurodegenerative conditions. This is a condition which can be an autosomal recessive that involves a variety of chromosomal abnormalities, but especially the short arm of chromosome 4 or it may be an abnormality in mitochondrial DNA. I think you should talk all this over with your son’s pediatrician to decide whether to pursue this rare possibility or to just try to treat the high blood sugars with small doses of a drug like Glucophage [metformin, a pill for Type 2 diabetes].


[Editor’s comment: Caring for small children with multiple problems, apparently including diabetes in this case, should ideally be in collaboration between your pediatrician and specialists. I’d suggest you discuss with your pediatrician the advisability of consulting with a pediatric endocrinologist.