Photosensitive Epilepsy and Polycystic Ovary Syndrome as Manifestations of MERRF

Area of Science:

• Mitochondrial Medicine
• Neurology
• Endocrinology

Background:

• Myoclonic epilepsy with ragged-red fibers (MERRF) is a mitochondrial disorder typically characterized by specific neurological and muscular symptoms.
• Endocrinologic dysfunction and epilepsy are common in MERRF, but polycystic ovary syndrome (PCOS) and photosensitive epilepsy have not been previously reported.

Observation:

• A 32-year-old female with MERRF, confirmed by the m.8344A>G mutation in MT-TK, presented with photosensitive focal and generalized seizures since age 19.
• She also experienced secondary amenorrhea and was diagnosed with PCOS, treated with hormone replacement therapy.
• Despite treatment, her MERRF symptoms, including ataxia, myoclonus, and myopathy, showed progressive worsening.

Findings:

• This case report highlights the potential for MERRF to manifest with a broader phenotypic spectrum, including PCOS and photosensitive epilepsy.
• Photosensitive epilepsy in this patient was effectively managed with levetiracetam, clonazepam, and topiramate.
• Polycystic ovary syndrome in the context of MERRF appeared to respond to hormone substitution therapy.

Implications:

• The findings suggest that clinicians should consider PCOS and photosensitive epilepsy in the differential diagnosis of MERRF patients with relevant symptoms.
• This broadens the understanding of MERRF's clinical variability and emphasizes the importance of comprehensive patient evaluation.
• Effective management strategies for these additional MERRF manifestations may involve established treatments for PCOS and epilepsy.