{Reference Type}: Case Reports
{Title}: Adult-onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): a diagnostic challenge.
{Author}: Acquaah J;Ferdinand P;Roffe C;
{Journal}: BMJ Case Rep
{Volume}: 17
{Issue}: 2
{Year}: 2024 Feb 26
暂无{DOI}: 10.1136/bcr-2023-256306
{Abstract}: Rare causes of stroke-like presentations can be difficult to diagnose. We report a case of a man in his 40s who first presented with stroke symptoms, but whose clinical course was not typical for a stroke. A detailed investigation of the patient's medical history revealed bilateral sensorineural hearing loss which prompted a wider diagnostic assessment.Furthermore, lack of vascular risk factors and a normal angiogram strengthened our suspicion of an unusual underlying condition. Raised lactic acid levels and genetic analysis confirmed a diagnosis of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome.