Brain magnetic resonance imaging findings in patients with mitochondrial cytopathies.
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.
Barragán-Campos
Héctor Manuel
HM
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>
Vallée
Jean-Noël
JN
Lô
Daouda
D
Barrera-Ramírez
Carlos Felipe
CF
Argote-Greene
Marcelo
M
Sánchez-Guerrero
Jorge
J
Estañol
Bruno
B
Guillevin
Rémy
R
Chiras
Jacques
J
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*