title: Congenital mitochondrial cytopathy and chronic progressive external ophthalmoplegia.
abstract: BACKGROUND
  Chronic Progressive External Ophthalmoplegia (CPEO) encompasses different conditions having in common a slowly progressive external and general ophthalmoplegia. The discovery of CPEO is suggestive of mitochondrial cytopathy, but this is not necessarily so.
  
  
  METHODS
  We report here a case, presenting at age 9 months, characterized by bilateral blepharoptosis and partial third nerve oculomotor deficiency, with no nystagmus. Mitochondrial cytopathy was suspected on cranial MRI and confirmed by muscle biopsy. Enzyme studies revealed a defect on the complex I respiratory chain. This case is unique in that the symptoms completely resolved under a Ketogen diet.
authors.affiliation: Clinique Ophtalmologique, Universitaires de Strasbourg, Strasbourg, France. claude-speeg@chru-strasbourg.fr
authors.forename: C
authors.initials: C
authors.lastname: Speeg-Schatz
authors.forename: A
authors.initials: A
authors.lastname: de Saint-Martin
authors.forename: D
authors.initials: D
authors.lastname: Christmann
mesh_terms: D001763:Blepharoptosis / Q000175:diagnosis; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D017240:Mitochondrial Myopathies / Q000151:congenital* / Q000175:diagnosis / Q000628:therapy; D009759:Nystagmus, Pathologic / Q000175:diagnosis / Q000628:therapy; D015840:Oculomotor Nerve Diseases / Q000175:diagnosis / Q000628:therapy; D017246:Ophthalmoplegia, Chronic Progressive External / Q000151:congenital* / Q000175:diagnosis / Q000628:therapy