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November 15, 2001

Diagnosis and Symptoms

Question from Erie, Pennsylvania, USA:

Our six year old adopted son who was initially diagnosed with transient neonatal diabetes, was put on insulin at six weeks of age which was discontinued when he was 16 months old, and he was discharged from the diabetes clinic. During the four years he was in foster care, his blood sugars were not monitored, but when he was placed with us at age five, our nurse discovered glucose in his urine and high blood sugar levels. He has been on Amaryl [glimepiride] for a year and doing well. He also has other health problems, including high cholesterol, sensory neural hearing loss (both ears), and sensory integration deficit. Could these all be part of a broader syndrome?


Transient Neonatal Diabetes is a very rare disorder which is why there have been few attempts to define subtypes. The condition however is often associated with abnormalities of the long arm of chromosome 6, the most common of which is paternal disomy in which both halves of the chromosome come from the father. Many of these children are ‘small for dates’ at birth and a variety of associated abnormalities are described such as cerebellar dysfunction and an abnormal facial appearance. Hyperlipidemia does occur as well which may well be associated with hypercholesterolemia. This in turn could be a function of the type of diabetes they have, which is of the insulin resistant variety rather than the more common autoimmune type. I could find no report of an association with deafness though this might be a reflection of intrauterine malnutrition.