Subclinical Leber's hereditary optic neuropathy with pediatric acute spinal cord onset: more than meets the eye.
Eleonora MauriRobertino DilenaAntonio BoccazziDario RonchiDaniela PigaFabio TriulziDelia GagliardiRoberta BrusaIrene FaravelliNereo BresolinFrancesca MagriStefania CortiGiacomo Pietro ComiPublished in: BMC neurology (2018)
Our case reports a novel pediatric clinical manifestation associated with the m.3460G > A mtDNA mutation, broadening the clinical spectrum of this disease. Early identification of new cases and monitoring of carriers beginning in childhood is important to prevent neurological deterioration and preserve long-term function.