![]() The patient had difficulty standing on one leg, and his tandem gait was impaired. The mother presented with easy fatigability and exercise intolerance at age 30, myocloni from age 52, photosensitivity (i.e., uncomfortable feeling with flickering light and when looking at numerous stones, leaves, or dirty snow on the ground), hypothyroidism, arterial hypertension, and ischemic heart disease.Ī clinical neurological exam at age 27 showed an impaired convergence response, permanent left eyeball abduction, positional tremor of both hands (more pronounced in the morning than in the evening), occasional myocloni, and static-locomotor and dynamic ataxia. The family history was positive for MERRF-plus syndrome in the sister. Long periods of working at the computer or reading a book led to fatigue and discomfort, and the patient had to close his eyes. At age 27, difficulty concentrating on computer tasks developed. The patient needed up to two weeks to recover from such episodes, which subsided spontaneously after one month. If such states persisted for a long time, falls occurred, with a loss of consciousness that lasted for a few seconds. After such an episode, he would occasionally experience discomfort in his head or eyes, or when walking on stones. Since that episode, he experienced these blackouts 2-3 times a day. At age 27, the patient experienced a first “cerebral blackout” with unconsciousness for a few seconds and stumbling after walking 10 km. From age 26, impaired coordination was found. From age 21, the patient suffered recurrent myocloni of the limbs or shoulders. Imaging of the brain did not reveal any meaningful findings. After that, he was able to cycle and swim again, but his fatigability persisted. The patient recovered after resting for a week and eating well. A year later, after a long walk without eating, the patient’s legs buckled and he fell to his knees without losing consciousness. Work-up for tremor by electroencephalography (EEG) showed epileptiform discharges in the form of spike-wave activity in both occipital projections with a tendency to generalize in the form of bilateral synchronous discharges. Surprisingly, no treatment with anti-seizure drugs (ASDs) was started at that time. When the patient spoke for a long time, his speech would slow down, and he would stutter. The patient is a 27-year-old Caucasian male with uncomplicated early development, who only became conspicuous at age 19 due to fatigue and slight persistent tremor of both hands. ![]() Further, the homoplasmy of the m.8344A>G variant appears to be more beneficial than harmful. ![]() In conclusion, the m.8344A>G variant may manifest milder and with a later onset in the homoplasmic as compared to the heteroplasmic form. Clonazepam was recommended but declined by the patient. EEG showed low-amplitude spikes, slow-spike waves at the posterior vertex, and generalized slow-spike waves. At age 27, the patient experienced a first “syncope” after a long walk, which subsequently recurred up to 2-3 times per day. Because the sister had been diagnosed with MERRF-plus syndrome, the patient underwent genetic testing, which revealed the m.8344A>G variant in homoplasmy. From age 21, generalized myocloni occurred. ![]() At age 20, the patient suffered a fall due to muscle weakness. Although electroencephalography showed spike-wave complexes in both occipital projections with generalization, no anti-seizure drugs were given. When he talked for a long time, his speech would slow down, and he would stutter. The 27-year-old male, with an uneventful history, presented at age 19 with fatigue and persistent tremor in both hands. A myoclonic epilepsy with ragged-red fibers (MERRF) patient who carried the m.8344A>G variant in the homoplasmic form manifested a milder phenotype than his sister who carried the same variant in the heteroplasmic form, which has not yet been reported.
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