Endocrine Abstracts

A 26-year-old woman presented with vomiting and cortical blindness. CT scan of the brain confirmed a right-sided parietal-occipital infarct, She subsequently developed seizures and neurological extension resulting in global dysphasia. Serum and CSF lactate were elevated (4.4 and 4.3 mmol/l respectively, NR<1.8). MELAS syndrome was confirmed by mitochondrial DNA analysis, which revealed an A3243G mutation in muscle and serum (85% muscle, 63% urinary epithelial cells and 33%...