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Complex I respiratory defect in LHON plus dystonia with no mitochondrial DNA mutation
  1. K K Abu-Amero1,
  2. T M Bosley2,
  3. S Bohlega2,
  4. D McLean2
  1. 1Genetics Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
  2. 2Neuroscience Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
  1. Correspondence to: Dr Khaled K Abu-Amero Department of Genetics, King Faisal Specialist Hospital and Research Center (MBC No 03), PO Box 3354, Riyadh 11211, Saudi Arabia; kamerokfshrc.edu.sa

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Leber hereditary optic neuropathy (LHON) sometimes occurs with dystonia1 in association with mitochondrial DNA (mtDNA) mutations in complex I.2 We describe a patient with LHON plus dystonia who had a severe complex I respiratory defect with no pathological mtDNA mutation, implying a mitochondrial abnormality of nuclear origin.

Case report

The proband was healthy until age 17 years when she developed progressive right sided weakness followed 5 years later by a left hemiparesis with involuntary posturing of the left arm and leg. Intelligence was average, and she finished grade 6 at school. Her parents were unrelated, and she had five healthy siblings.

Neuro-ophthalmological examination at age 23 documented excellent afferent and efferent visual functioning with no Kaiser-Fleischer ring. Optic discs were hyperaemic and slightly elevated with peripapillary telangiectasias in both eyes (fig 1A and B). She had modest right sided weakness, diffuse hyper-reflexia greater on the right, bilateral Babinski signs, and dystonic posturing on the right while walking.

Figure 1

 (A) Fundus photograph of left optic disc showing hyperaemia and peripapillary telangiectasias. The right disc had a similar appearance. …

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