Reevaluation of a case of type 1 diabetes mellitus diagnosed before 6 months of age.
BACKGROUND
A 17-year-old female was referred for the reassessment of her type 1 diabetes mellitus, with which she had been diagnosed at the age of 15 weeks owing to symptoms of ketoacidosis. The patient had mild learning difficulties, which resulted in her requiring additional support at school. There was no family history of diabetes.


METHODS
Measurements of plasma C-peptide and glutamate decarboxylase autoantibodies. Molecular genetic testing was performed.


METHODS
Intermediate developmental delay, epilepsy and neonatal diabetes mellitus (DEND) syndrome as a result of a 59V>M Kir6.2 mutation.


RESULTS
Treatment with high-dose oral glibenclamide replaced insulin treatment. Good glycemic control was achieved with levels of HbA(1c) consistently below 6.5% and no hypoglycemia.
Jones
Angus G
AG
Peninsula Medical School, Barrack Road, Exeter EX2 5DW, UK.
Hattersley
Andrew T
AT
D000284:Administration, Oral; D000293:Adolescent; D019943:Amino Acid Substitution; D002658:Developmental Disabilities / Q000209:etiology; D003922:Diabetes Mellitus, Type 1 / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D004305:Dose-Response Relationship, Drug; D004827:Epilepsy / Q000209:etiology; D005260:Female; D005905:Glyburide / Q000008:administration & dosage; D006442:Glycated Hemoglobin / Q000378:metabolism; D006801:Humans; D007004:Hypoglycemic Agents / Q000008:administration & dosage; D007223:Infant; D008715:Methionine; D009154:Mutation; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics; D013577:Syndrome; D014633:Valine; D000099161:Kcnj11 Channel
D005905:Glyburide; D006442:Glycated Hemoglobin; D007004:Hypoglycemic Agents; D008715:Methionine; D024661:Potassium Channels, Inwardly Rectifying; D014633:Valine; D000099161:Kcnj11 Channel