Psychiatric symptoms in a patient with the clinical features of MELAS

This article presents a case study of a 32-year-old Polish male patient clinically diagnosed with the MELAS syndrome, the second such patient reported in this country.

The patient presents with a long history of neurological episodes, consisting of acute neurological deficits suggestive of CVA with no evidence of focal lesion and very rapid remission of symptoms. These episodes began when the patient was 19 years old and have recurred since that time at intervals of 1-5 years. A recent psychiatric episode with unusual visual hallucinations brought the case to the attention of the present authors, who initiated further diagnostic testing. A muscle biopsy revealed ragged red fibers.

The features in this case meet the diagnostic criteria for a clinical diagnosis of MELAS, pending confirmation of a pathogenic mutation.