title: Brain magnetic resonance imaging findings in patients with mitochondrial cytopathies.
abstract: BACKGROUND
  Mitochondrial cytopathies (MCs) are a heterogeneous group of clinical entities, some of which have classic phenotypes. Magnetic resonance imaging (MRI) has been reported to be helpful in the diagnosis of MC.
  
  
  OBJECTIVE
  To correlate the most common brain MRI findings reported in patients with MC with the clinical findings in patients in different MC subgroups.
  
  
  METHODS
  Case series.
  
  
  METHODS
  Patients with MCs seen at the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubiran, Mexico City, Mexico.
  
  
  METHODS
  Twenty-one patients with MC with the following phenotypes: chronic progressive external ophthalmoplegia (n = 7), Kearns-Sayre syndrome (n = 7), mitochondrial neurogastrointestinal encephalopathy (n = 6), and myoclonic epilepsy with ragged red fiber myopathy (n = 1).
  
  
  RESULTS
  Brain MRI abnormalities were found in 20 (95%) of 21 patients. The most frequent abnormalities were widespread white matter hyperintensity in 19 patients (90%), supratentorial cortical atrophy in 18 patients (86%), and cerebellar atrophy in 13 patients (62%). Widespread white matter hyperintensity (P<.001) and supratentorial cortical atrophy (P = .001) were each correlated significantly with MC. Subsequent subgroup analyses showed that the absence of basal ganglia hyperintensity was correlated with Kearns-Sayre syndrome (P < .001) and the presence of supratentorial cortical atrophy was correlated with mitochondrial neurogastrointestinal encephalopathy (P = .005).
  
  
  CONCLUSIONS
  The presence of widespread white matter hyperintensity and/or supratentorial cortical atrophy in brain MRI may help to establish the diagnosis of MC. The radiologist has a role to play in the workup of MC by confirming the diagnosis and possibly distinguishing different subgroups of MC.
authors.affiliation: Department of Radiology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico. hector.barragan@psl.ap-hop-paris.fr <hector.barragan@psl.ap-hop-paris.fr>
authors.forename: Héctor Manuel
authors.initials: HM
authors.lastname: Barragán-Campos
authors.forename: Jean-Noël
authors.initials: JN
authors.lastname: Vallée
authors.forename: Daouda
authors.initials: D
authors.lastname: Lô
authors.forename: Carlos Felipe
authors.initials: CF
authors.lastname: Barrera-Ramírez
authors.forename: Marcelo
authors.initials: M
authors.lastname: Argote-Greene
authors.forename: Jorge
authors.initials: J
authors.lastname: Sánchez-Guerrero
authors.forename: Bruno
authors.initials: B
authors.lastname: Estañol
authors.forename: Rémy
authors.initials: R
authors.lastname: Guillevin
authors.forename: Jacques
authors.initials: J
authors.lastname: Chiras
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology*; D001931:Brain Mapping; D005260:Female; D006801:Humans; D007091:Image Processing, Computer-Assisted / Q000379:methods; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D017240:Mitochondrial Myopathies / Q000145:classification / Q000473:pathology*