ABSTRACT
A case of middle-age-onset mitochondrial encephalomyopathy,lactic acidosis and stroke-like episodes (MELAS) type mitochondrial myopathy was retrospectively analyzed, and clinical features and diagnostic criteria of MELAS with multiple cerebrovascular stenosis in the middle-aged were summarized. The patient was a middle-aged woman who suffered from repeated headaches and limb convulsions and admitted by Xuanwu Hospital Capital Medical University. She had various risk factors of atherosclerosis. Related examination revealed multiple intracranial vascular stenosis. The lesions could be caused by the stenotic vessels. Therefore, the first diagnosis was ' acute cerebral infarction' after admission. But the clinical symptoms were characterized by ' relapse-remission'. The patient also suffered from headaches, seizures, and cognitive decline. There was past history of ' neurological deafness' and hearing loss in both ears. Magnetic resonance imaging (MRI) showed that ischemic lesions were distributed in the cortex. So further examinations were conducted. She was diagnosed as MELAS-type mitochondrial myopathy by head MR, magnetic resonance spectroscopy (MRS) and genetic examination. Neurotrophic factors, mitochondria-protection,anti-epilepsy,and relief therapy were given. The genetics and clinical manifestations of MELAS-type of mitochondrial myopathy are broadly heterogeneous. For middle-age-onset patients who have various atherosclerotic risk factors and stroke-like symptoms, doctors should be cautious about the mitochondrial disease by dynamically observing patient's clinical symptoms and head MRI, and perform pathology and gene mutation examination for comprehensive analysis. Only in this way,can we timely consider the possibility of mitochondrial encephalomyopathy and correctly make diagnosis as early as possible.
ABSTRACT
Neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome is a rare maternally inherited mitochondrial disorder. Radiologic findings in NARP syndrome are varied; they include cerebral and cerebellar atrophy, basal ganglia abnormalities, and on rare occasions, leukoencephalopathy. This article describes an extremely rare case of NARP syndrome mimicking mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).
Subject(s)
Ataxia , Atrophy , Basal Ganglia , Leukoencephalopathies , Magnetic Resonance Imaging , MELAS Syndrome , Mitochondrial Diseases , Retinitis PigmentosaABSTRACT
Objective To explore the clinical features of mitochondrial encephalomyopathy lactic acidosis and strokelike episodes (MELAS) syndrome in fratemal twins brothers.Methods The clinical data,the results of laboratory examinations,electroencephalogram (EEG),imaging,and gene detection,and the process of diagnosis and treatment were retrospectively analyzed the fraternal twin brothers with MELAS syndrome.Results The proband,a 7-year-old male,had intermittent headaches,vomit and twitching at onset.He suffered from exercise intolerance,fatigue,accompanied by short stature and hairy.The fasting blood lactic acid level was increased.Multiple video EEG showed the slowdown of background activity.Head MRI showed recurrent lesions with the characteristics of migration and variation.The point mutation rate of mtDNA A3243G was 34.7％.The diagnosis of MELAS was confirmed.At the same time,his fraternal twin brother was screened and found that his point mutation rate of A3243G was 30.0％.Although there was no clinical symptom at that time,he was onset with convulsion after 3 years.Conclusions Gene detection and family screening are helpful for the early diagnosis of MELAS.The mutation rate of A3243G is very high,which can cause an early onset and serious clinical symptoms.
ABSTRACT
ObjectiveTo discuss the clinical features, diagnosis and treatment of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome in children.Methods The clinical features and treatment process of two children with MELAS were retrospectively analyzed.ResultsThe main clinical features of MELAS were stroke-like epi-sodes, seizure, visual anomaly and lactic acidosis. Cephalic MRI ifndings performed during episode periods were in accord with the typical radiographic features of MELAS. Gene testing on the two children and their mothers showed the point mutation of A3243G in mitochondrial genome. The symptoms were improved signiifcantly after energy supply and corticosteroid treatment. Conclusions MELAS syndrome is easy to be misdiagnosed due to the varied clinical features. The diagnosis depends on the musclebiopsy and gene testing. Corticosteroid therapy is effective for MELAS syndrome.