Background: Mitochondrial diseases are characterised by dysfunction of the energy production cascade. As any organ system can be affected by mitochondrial disruption there can be a wide range of clinical presentations, including neuropsychiatric symptoms. Existing reports of psychopathology occurring in mitochondrial disorders have mostly involved psychosis, mood symptoms or dementia.
Method: Three cases of Obsessive-Compulsive Spectrum symptoms occurring in patients with MELAS, a syndrome of mitochondrial dysfunction, are presented. The clinical symptomatology, associated physical symptoms, laboratory findings and neuroimaging are discussed.
Results: The response to treatment efforts with traditional OCD strategies and clinical course was poor. The obsessive-compulsive symptomatology resulted in significant distress to patients and care-givers in all cases and contributed to the need for placement in one.
Conclusions: This is the first report of obsessive-compulsive spectrum symptoms occurring in patients with mitochondrial disease. It remains unclear whether these symptoms are coincidental or the direct result of the mitochondrial dysfunction. These symptoms may predate the diagnosis of a mitochondrial disorder, thus psychiatrists should consider this diagnosis in the presence of common physical signs associated with these disorders.