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Héctor Manuel Barragán-Campos, MD, MSc; Jean-Noël Vallée, MD, PhD; Daouda Lô, MD; Carlos Felipe Barrera-Ramírez, MD; Marcelo Argote-Greene, MD; Jorge Sánchez-Guerrero, MD, MPH; Bruno Estañol, MD; Rémy Guillevin, MD; Jacques Chiras, MD

Arch Neurol. 2005;62:737-742.

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.

Design  Case series.

Setting  Patients with MCs seen at the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.

Patients  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.

Author Affiliations: Departments of Radiology (Dr Barragán-Campos), Internal Medicine (Dr Barrera-Ramírez), Surgery (Dr Argote-Greene), Rheumatology-Immunology (Dr Sánchez-Guerrero), and Neurology (Dr Estañol), Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico; and Neuroradiology Service, Groupe Hospitalier Pitié-Salpêtrière, Paris, France (Drs Vallée, Lô, Guillevin, and Chiras). Dr Barragán-Campos is now with the Neuroradiology Service, Groupe Hospitalier Pitié-Salpêtrière, Paris.

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