[Stroke in a patient with marked thinness, diabetes mellitus and basal ganglia calcifications].

Mitochondrial DNA mutations are uncommon causes of diabetes mellitus in adults and are related to a wide spectrum of diseases. Its association with myopathy, lactic acidosis, and stroke is an even less frequent syndrome. We report the case of a young woman who was diagnosed with mitochondrial disease upon admission for a stroke. This case is that of a 46-year-old patient urgently admitted to the neurology department for speech difficulties during the previous week. Physical examination revealed marked thinness, myopathic facies with palpebral ptosis more marked in the left eye, mild dysarthria, mixed (predominantly motor) aphasia with difficulty in understanding complex commands and unstable gait, and was otherwise unremarkable. Computed tomography (CT) of the head disclosed coarse calcifications in basal nuclei and an extensive left temporal hypodense lesion related to subacute ischemic stroke in the territory of the left middle cerebral artery. The personal history of the patient included constitutional thinness, bilateral sensorineural deafness of unknown cause diagnosed at 20 years of age, secondary amenorrhea starting some 15 years earlier, type 2 diabetes mellitus since 2008, and non-specific ST segment changes with negative T in the inferior lateral aspect followed up by cardiology. As regards family history, a brother also had juvenile onset sensorineural deafness and type 2 diabetes mellitus treated with basal insulin. The patient received no specific treatment because she had discontinued the oral antidiabetic drug prescribed by her physician (metformin 850 mg twice daily) due to poor tolerance (gastrointestinal symptoms, malaise, and characteristic body odor). Laboratory test results included 153 mg/dL of glucose and 499 U/L of lactate dehydrogenase (normal range [NR],