MERRF syndrome, which combines myoclonic epilepsy and myopathy with red and shredded muscle fibers, is part of the wide spectrum of mitochondrial diseases. In this syndrome, neuropathies are common but no ganglionopathy has ever been reported.
In an article published in June 2020, a French team including clinicians from the Institute of Myology retrospectively identified 24 patients with MERRF mutations followed by the Reference Center for Neuromuscular Diseases Nord/Est/Ile de France (Pitié-Salpêtrière, Paris, France). Seventeen nerve conduction studies were available. Five patients had MERRF syndrome and ganglionopathy, a purely sensory neuropathy. They all displayed ataxia and mild clinical sensory abnormalities. If ganglionopathies in mitochondrial diseases have already been reported, this is the first time that they are associated with MERRF syndrome.
The authors suggest that patients presenting with ganglionopathy, particularly if associated with myopathy, lipomatosis or epilepsy, should be screened for MERRF mutations.
