hrp0086p2-p296 | Diabetes P2 | ESPE2016

Diabetes – a Rare Complication of Ataxic Telangiectasia Presenting in Childhood

Veleshala Sereesha , Bain Murray , Saha Sharvanu , Wei Christina

Case: A South Indian boy diagnosed with ataxic telangectaisa(AT) since aged 5 years (homozygous mutations for ATM gene at C1966A>C and 1968-X.delI), presented with type 2 diabetes (T2DM) aged 15.9 years. There was a 4-week history of polyuria and polydipsia without weight loss. Investigations showed fasting glucose 11.5 mmol/l, insulin 209 pmol/l, HbA1c 103 mmol/mol, negative glutamic acid decarboxylase and islet cell antibodies, and urinary C-peptide 2.84 nmol/mo...