Abstract Cases are described with Leber’s optic atrophy and neurological symptoms and/or MRI lesions suggestive of multiple sclerosis. We describe a case of a young woman with Devic’s neuromyelitis optica and 3460 homoplasmic mitochondrial DNA mutation. Key words Leber’s optic atrophy • Devic’s neuromyelitis optica • Multiple sclerosis • Mitochondrial DNA mutation Introduction Devic’s neuromyelitis optica (DNO) is a mono/polyphasic disease characterised by myelitis and optic neuritis in a sin- gle/recurrent attack, with no other concomitant neurological symptom. Criteria for diagnosis have been recently reviewed [1, 2], emphasising the role of brain (normal, at least in the initial stages of the disease) and spinal cord (lesions extend- ing in more than 2 segments) magnetic resonance imaging (MRI). Cerebralspinal fluid (CSF) is a supportive criteria if it shows increased cell number or protein content. DNO is frequently associated to concomitant autoim- mune diseases and is often preceded by infections or vacci- nation [1, 2]. We describe a case with DNO and concomitant mutation of mitochondrial DNA. To our knowledge, this is the first case with this association. Case report A 26-year-old female, with a negative family history and no relevant previous diseases, presented an acute attack of left optic neuritis at 18 years of age. Visual acuity quickly dropped to 1/10 and, in spite of corticosteroid therapy, the impairment remained stable. Brain MRI was normal, and it was confirmed normal one year later. She was tested for mutation of mitochondrial DNA and resulted positive for 3460 mutation. Five years later, at age 25, she developed an acute optic neuritis in the right eye. Visual acuity was 4/10 in the right, 1/10 in the left eye. Brain MRI was again negative. Some months later she developed sensory and motor impairment in the lower limbs and urinary dysfunction. Spinal cord MRI showed two lesions, one at D8–D9 level, another at D11 level, with enhancement after Gadolinium administration. CSF showed a slight increase of cell number (10 WBC/mm 3 ). Symptoms partially regressed but, on last examination (March 2004) mild sensory impairment in the Neurol Sci (2004) 25:S380–S382 DOI 10.1007/s10072-004-0347-8 A. Ghezzi • S. Baldini • M. Zaffaroni • G. Leoni • T. Koudriavtseva • A.R. Casini • M. Zeviani Devic’s neuromyelitis optica and mitochondrial DNA mutation: a case report A. Ghezzi () • S. Baldini • M. Zaffaroni Centro Studi Sclerosi Multipla Ospedale di Gallarate Via Pastori 4, I-21013 Gallarate, Italy e-mail: centro.sm@libero.it G. Leoni U.O. Oculistica, Gallarate, Italy T. Koudriavtseva • A.R. Casini U.O. Neurologia, Ospedale S. Giovanni, Rome, Italy M. Zeviani Istituto Nazionale Neurologico C. Besta, Milan, Italy