Incidence of Photosensitive Epilepsy and PCOS in a Case of MERRF

Case Presentation

A 19-year-old woman was presented with a generalized tonic clonic seizure followed by severe muscle weakness and muscle ache.

Family History

• The family history was found to be positive for easy fatigability, photosensitivity, hand tremor, myocloni, seizures, ataxia and hypothyroidism.

• The mother experienced an unpleasant feeling in the presence of flickering light and on looking at many stones, leaves or dirty snow on the ground.55
• Both, the mother and the brother of the patient carried the m.8344A > G variant
• The mother had a heteroplasmy rate of 40% and the brother was homoplasmic.