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Introduction: The mutation at m. 3243 adenine to guanine (A>G) in mitochondrial encoded transfer-RNA Leucine 1 (MTTL1) gene is the single most prevalent disease-causing mitochondrial DNA (MtDNA) mutation, with carrier status of 1:400 in our general population. The distinct disease phenotype is dependent on the level of heteroplasmy of wild-type vs mutation-type mtDNA in the specific target tissues, ranging from Maternally inherited diabetes and Deafness (MIDD) to mitochondrial encephalopathy lactic acidosis and stroke like episodes (MELAS). However, current studies have shown MELAS/MIDD overlap to be present (in up to 6% of the cases) but not without posing diagnostic dilemmas as current clinical criteria are based on classical features of one or the other with the likelihood of missing conditions with overlapping features. The authors describe a similar case of overlap where MIDD was overlooked due to the pre-existing diagnosis of MELAS. Case History: A 33-year-old female with a background of MELAS and type 1 diabetes mellitus, admitted because of symptomatic uncontrolled capillary blood glucose levels. She had four admissions in the last three months related to hyperglycaemia and presence of ketones. Despite optimization of her basal bolus insulin regime, it was felt that she was unable to follow advice on self management with probable issues with compliance. She was frequently found to be not listening to staff instructions as an inpatient and kept on repeating the same question regarding when she could go home. Her examination was unremarkable with no evidence of diabetic retinopathy, nephropathy or neuropathy. Her recent investigation were normal other than HbA1c of 86 mmol/mol and high capillary blood glucose readings.

endocrine abstracts

Birds of a feather flock together: Maternally inherited diabetes and Deafness AND Mitochondrial encephalopathy lactic acidosis and stroke like episodes