摘要
目的探讨成人线粒体脑肌病（ME）的临床、MRI及病理学诊断方法。方法回顾性分析5例ME患者的临床表现、影像学和组织病理学特征，5例患者均行MRI检查、脑电图、肌肉活检及病理检查，其中2例行脑活检。结果患者主要临床表现为以抽搐为主要特征的癫痫样发作、运动不耐受及发作性头痛和呕吐、视听障碍等。脑电图为广泛中、重度异常。血乳酸水平升高。肌肉活检可见不整红边纤维。脑活检可见大量神经细胞空泡变性、减少和脱失。MRI检查示广泛的大脑皮层及皮层下长T1、长T2异常信号，呈灶状、囊状改变伴有脑萎缩，或者灰质核团对称性长T1、长T2信号，病变均未见强化。结论根据ME的临床及影像学特点，结合肌肉活检可对该病做出早期诊断。
Objective To investigate the clinical and pathological presentations and MRI manifestations of mitochondrial encephalomyopathy （ME） in adults. Methods The clinical and histopathological characteristics and imaging features of 5 cases with ME were retrospectively analyzed. The 5 cases all underwent examinations with MRI, electroencephalogram （EEG） and pathology, and muscle biopsies, among which 2 underwent brain biopsies. Results Clinical features of the patients mainly included epileptiform seizures characterized by twitching, exercise intolerance, paroxysmal headache and vomiting, and audio-visual obstacles etc. EEG showed abnormalities extensively from medium to severe degrees and increased blood lactic acid levels; muscle biopsies showed ragged-red fiber （RRF）, among which brain biopsies revealed vacuolar degeneration, decrease and loss of an abundance of nerve cells. MRI demonstrated abnormal long T1 and long T2 signals distributing extensively in the cerebral cortical and subcortical regions, with focal or cystic changes accompanied by brain atrophy, or syrmnetrical long T1 and long T2 signals in gray matter nuclei. There was no enhancement in all the cases. Conclusion ME is possibly to be early diagnosed according to the clinical and imaging features, in combination with the muscle biopsy.
出处
《中华神经医学杂志》
CAS
CSCD
2008年第1期85-87,共3页
Chinese Journal of Neuromedicine
关键词
线粒体脑肌病
磁共振成像
病理学
临床
不整红边纤维
Mitochondrial encephalomyopathies
Magnetic resonance imaging
Pathology, clinical
Ragged-red fiber
