线粒体细胞病患者的脑部MRI表现  

Brain magnetic resonance imaging findings inpatients with mitochondrial cytopathies

作　　者：Barragn-Campos H.M. Vallée J.-N. L.D. 高中宝 

机构地区：[1]Service de Neuroradiologie du Professeur Jacques Chiras, Groupe Hospitalier Pi tié-Salpêtrière, 47-83 Boulevard de l'hpital, 75651 Paris, Cedex 13, France,Dr.

出　　处：《世界核心医学期刊文摘（神经病学分册）》2005年第9期17-18,共2页Digest of the World Core Medical Journals:Clinical Neurology

摘　　要：Background: Mitochondrial cytopathies (MCs) are a heterogeneous group of clini cal entities, some of which have classic phenotypes. Magnetic resonance imaging (MRI) has been reported to be helpful in the diagnosis of MC. Objective: To corr elate the most common brain MRI findings reported in patients with MC with the c linical findings in patients in different MC subgroups. Design: Case series. Set ting: Patients with MCs seen at the Instituto National de Ciencias Médicas y Nu tritin Salvador Zubirn, Mexico City, Mexico. Patients: Twenty-one patients with MC with the following phenotypes: chronic progressive external ophthalmople gia (n=7), Kearns-Sayre syndrome (n=7), mitochondrial neurogastrointestinal enc ephalopathy (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 mos t frequent abnormalities were widespread white matter hyperintensity in 19 patie nts (90%), supratentorial cortical atrophy in 18 patients (86%), and cerebella r atrophy in 13 patients (62%). Widespread white matter hyperin tensity (P < .001) and supratentorial cortical atrophy (P=.001) were each corr elated significantly with MC. Subsequent subgroup analyses showed that the absen ce 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 p resence 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.Background: Mitochondrial cytopathies (MCs) are a heterogeneous group of clini cal entities, some of which have classic phenotypes. Magnetic resonance imaging (MRI) has been reported to be helpful in the diagnosis of MC. Objective: To corr elate the most common brain MRI findings reported in patients with MC with the c linical findings in patients in different MC subgroups. Design: Case series. Set ting: Patients with MCs seen at the Instituto National de Ciencias Médicas y Nu tritin Salvador Zubirn, Mexico City, Mexico. Patients: Twenty-one patients with MC with the following phenotypes: chronic progressive external ophthalmople gia (n=7), Kearns-Sayre syndrome (n=7), mitochondrial neurogastrointestinal enc ephalopathy (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 mos t frequent abnormalities were widespread white matter hyperintensity in 19 patie nts (90%), supratentorial cortical atrophy in 18 patients (86%), and cerebella r atrophy in 13 patients (62%). Widespread white matter hyperin tensity (P < .001) and supratentorial cortical atrophy (P=.001) were each corr elated significantly with MC. Subsequent subgroup analyses showed that the absen ce 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 p resence 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.

关 键 词：细胞病 MRI 肌阵挛型癫痫 皮质萎缩 脑白质 放射科医师 小脑萎缩 鉴别诊断 纤维肌 脑病 

分 类 号：R445.2[医药卫生—影像医学与核医学]