Myoclonic epilepsy with red ragged fibers (MERRF)
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Myoclonic epilepsy with red ragged fibers (MERRF) is a rare multisystem mitochondrial disorder.
Patients usually present in late adolescence or early adulthood with 1-3
vision and/or hearing loss
The diagnosis of MERRF is based on clinical symptoms (myoclonus, epilepsy, ataxia) and ragged-red fibers on muscle biopsy 3.
The mitochondrial gene MT-TK, which encodes tRNALys, is the most commonly affected with an A-to-G transition at nucleotide 8344 (80%) 3.
serum and CSF lactic acidosis
high CSF protein
Neuroradiological features of MERRF can be seen on CT and/or MRI 1,2:
globus pallidus atrophy +/- calcification
dentate nucleus calcification
On imaging consider:
MELAS: differentiated by the presence of strokes in MELAS