Clinical analysis of elven families with mitochondrial encephalomyopathy in children / 中国热带医学

@#Abstract: Objective To investigate the clinical phenotype and genotype characteristics of mitochondrial encephalomyopathy (ME) families in children. Methods　The clinical data and genetic test results of eleven ME families who were admitted to the department of pediatrics of three tertiary hospitals in Hainan Province from January 2007 to December 2021 were retrospectively analyzed. Results　A total of 13 cases were diagnosed in eleven ME families, including 6 males (46.15%) and 7 females (53.85%). The age of onset ranged from 6 months to 12 years, the interval from onset to diagnosis was 9 months to 8 years and Morava score was 6-11. Clinical symptoms mainly included abnormal movement, developmental retardation or regression, seizures, stroke-like episodes; among the 13 children, 11 (84.62%) had elevated blood lactic acid and 4 (30.77%) had elevated blood creatine kinase. Cranial MRI mainly involved temporal parietal occipital lobe, cerebellum, brainstem and basal ganglia, some with brain atrophy. Gene detection showed that 8 families (72.72%) were caused by mtDNA mutation, of which 5 families and 6 patients were caused by MT-TL1, m.3243A>G, and 5 asymptomatic carriers of 4 families (80.00%) were detected; MT-ND5, m.13513 G>A was detected in 2 families and 3 patients, and an asymptomatic mutation carrier was detected in a family (50.00%); MT-ND3, m.10191T>C was detected in one family and one patient, and 2 asymptomatic mutation carriers were detected. Three families were caused by nDNA mutations (27.27%). A compound heterozygous mutation of c.751C>T and c.516-2A >G in SURF1 gene was found in one family and one patient, which followed autosomal recessive inheritance. The pathogenic loci were inherited from mother and father, respectively. Two new spontaneous mutations c.1040C>G and c.2060_2062delTAG in DNM1L gene were respectively detected in two families and two patients. All children were given mitochondrial cocktail therapy and symptomatic treatment after diagnosis by genetic testing. Follow-up to June 2022, two families were lost to follow-up and 9 families were followed up regularly; three of the 11 children were still survived. Conclusions　For children diagnosed with ME, genetic testing of family members can screen out early asymptomatic pathogenic mutation carriers, achieve early diagnosis of ME and guide clinical genetic counseling. Two new pathogenic sites of DNM1L gene were found in this study, which expanded the genotype spectrum.

MELAS syndrome caused by A3252G mutation in MT-TL1 gene: One case report and literature review / 中华内分泌代谢杂志

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes(MELAS) is one of the most common inherited mitochondrial diseases. This paper reports a rare mutation associated with MELAS syndrome, the m. 3252 A>G mutation in the MT-TL1 gene encoding the mitochondrial tRNALeu(UUR). The 6-year-old girl suffered from recurrent convulsion and lactic acidemia. The mtDNA sequencing detected a variant m. 3252A>G(MT-TL1 gene) in the proband and her maternal relatives. The heteroplasmic levels in peripheral blood and urine sediment were 66.53% and 97.42%, respectively, which were obviously higher than those of her maternal relatives. Together with 3 previously reported cases, the variant m. 3252A>G could be classified pathogenic. All the reported pathogenic variants in MT-TL1 gene were reviewed to explore the genotype-phenotype correlations of pathogenic variants in MT-TL1 gene.

The clinical features of mitochondrial encephalomyopathy with lactic academia and stroke 1ike episodes in children / 中国小儿急救医学

Objective:To analyze the clinical manifestations, blood biochemistry indexes, imaging and genetic characteristics of mitochondrial encephalomyopathy with lactic academia and stroke 1ike episodes (MELAS) in children, so as to provide the basis for the diagnosis of MELAS and reduce the misdiagnosis rate.Methods:The clinical data of children with MELAS admitted to the Second Affiliated Hospital of Wenzhou Medical University from January 2000 to December 2020 were retrospectively analyzed, and healthy children undergoing physical examination during the same period were selected as control group.The clinical data were compared between two groups, and the clinical manifestations, blood biochemistry indexes, electrocardiogram, cardiac ultrasound, cranial imaging and genetic testing were analyzed.Results:A total of eight children in MELAS group were collected, including three males and five females.The average age of onset was(9.90±3.89)years.There were eight children in control group, including four boys and four girls, with an average age of(7.92±2.51)years.Among the eight children with MELAS, there were six cases of vomiting, eight cases of epilepsy, five cases of headache, two cases of growth retardation, one case of mental retardation, one case of diabetes, and one case of peripheral neuropathy.The levels of lactate, lactate dehydrogenase, creatine kinase, and pyruvate in MELAS group were higher than those in control group, and the differences were statistically significant( P<0.05). Brain MRI abnormalities were observed in all patients, among which five patients had lesions located in the cerebral cortex, mostly in the parietal occipital temporal lobe, one patient had lesions located in the basal ganglia, and two patients had lesions in both cortex and basal ganglia.MRS of five cases showed inverted lactate peak with bimodal change.The electroencephalogram of eight cases showed slow wave of background activity, and epileptic discharge was observed in two cases.Seven children with MELAS had mtDNA locus mutation M. 3243A>G, and one patient had M. 8344A>G mutation.Eight cases were treated with symptomatic and supportive therapy, and were followed up for 3-5 years, most of them were hospitalized repeatedly because of similar chief complaints.The course of disease was prolonged and repeated, and the symptoms were relieved and discharged after about one week of hospitalization. Conclusion:The clinical manifestations of MELAS in children are diverse, and early diagnosis is difficult.Blood biochemistry, imaging characteristics and genetic testing results are helpful for early diagnosis, early treatment and delaying the progression of the disease.

Neonatal mitochondrial disease / 中国小儿急救医学

Mitochondrial disease refers to an energy metabolic disorder caused by dysfunction of oxidative phosphorylation system or pyruvate dehydrogenase complex as a result of mitochondrial DNA or nuclear DNA mutation.It can occur at any age arranging from newborn to adult, which is often presented as clinical syndromes.Common clinical manifestations in neonatal period include premature delivery, intrauterine growth restriction, hypotonia, dyspnea, convulsions, feeding difficulties, hyperlactic acid, etc, lacking of specificity.Neonatal onset syndromes include Leigh syndrome, mitochondrial encephalomyopathy-lactic acidosis and stroke-like episodes syndrome, Alpers syndrome, myocerebrohepatopathy spectrum disorder, Barth syndrome and Pearson syndrome.The diagnosis depends on the comprehensive analysis of clinical symptoms, biochemical tests, neuroimaging, histological tests and genetic tests.In most cases, there are few effective drugs.Gene therapy and exogenous mitochondrial transplantation are the directions of future exploration.

A case of middle-aged mitochondrial encephalomyopathy with multiple cerebrovascular stenosis / 中国脑血管病杂志

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.

Atypical Radiologic Manifestation of NARP Mimicking MELAS: a Case Report

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).

Clinical features of mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes syndrome in twin brothers / 临床儿科杂志

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.

Clinical features of mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes syndrome (report of 1 case) / 临床神经病学杂志

Objective To explore the classical clinical features of mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes (MELAS) syndrome.Methods The clinical data of 1 MELAS syndrome patient was analyzed retrospectively.Results This patient suffered from the symptoms of stroke such as speech disorder and abnormal behavior at the beginning.She had a medical history of maternal family.There were headache and seizure in the process of the disease.The result after a physical examination showed that the patient had hearing loss, visual field defect and decrease of muscle strength.The CT and MRI scan of head showed that the patient had a stroke like lesion which did not follow the distribution of blood vessels.The blood and cerebrospinal fluid examination has ruled out viral and autoimmune encephalitis.The final diagnosis of MELAS syndrome was confirmed by gene analysis.The gene mutation was the m.3243A>G mutation.The clinical symptoms of the patient were comprehensive and the imaging findings were typical.Conclusions Main clinical manifestations of MELAS syndrome are stroke like seizures, epilepsy, headache, dementia, hearing impairment, peripheral neuropathy, myopathy, lactic acidosis, diabetes and so on.Main imaging features of the disease are stroke like lesions, basal ganglia calcification and brain atrophy.

Clinical analysis of mitochondrial encephalomyopathy with lactic acidosis and stroke -like episodes in children / 中华实用儿科临床杂志

Objective To investigate the clinical,imaging,pathological and molecular biological features of mitochondrial encephalomyopathy with lactic acidosis and stroke -like episodes(MELAS)in children.Methods The clinical,imaging,pathological and molecular biological features of 1 2 children with MELAS diagnosed through muscle biopsy or gene sequencing in the Fifth Affiliated Hospital of Zhengzhou University from January 201 1 to December 201 5 were retrospectively analyzed.Results (1 )Clinical features:the main manifestations included headache and vomiting in 1 1 cases,epileptic seizures in 9 cases,short stature in 8 cases,hairy in 7 cases,intolerance fatigue in 7 cases,cogni-tive decline in 7 cases,visual disturbance in 6 cases,hearing disturbance in 6 cases,and 5 cases had positive family history.In addition,7 cases had the serum lactic acid level increase in a rest for 1 0 min after exercise.(2)Imaging fea-tures:4 cases showed bilateral basal ganglia calcification symmetry in 8 patients who underwent head CT scan.The most frequently involved parts of the lesion were occipital in 1 0 cases,temporal in 9 cases and parietal lobe in 7 cases in stroke -like episodes.The lesions were lamellar necrosis.The abnormal areas by MRI showed low signal intensity on T1 weighted imaging,high signal intensity on T2 weighted imaging and fluid attenuated inversion recovery,high or equal signal intensity on diffusion weighted imaging,high or low signal intensity on apparent diffusion coefficient;the lactate peak significantly increased on magnetic resonance spectroscopy.The distribution was not in accordance with the control region of the cerebral vessels.Dynamic observation revealed that the lesions were reversible and migratory.(3)Myo-pathological features:muscle biopsy was performed in all children,and ragged -red fibers were found in 1 0 cases by im-proved Gomori staining,strongly succinate dehydrogenase -reactive were found in 9 cases,and the lipid droplets slight-ly increased in 8 cases by oil red O staining.Besides,the crystalline inclusion bodies in mitochondria were arranged in a parking lotpattern in 9 cases by electromicroscope.(4)Molecular biological characteristics:the mitochondrial gene mutations were analyzed in peripheral blood of 9 children and their parents,including 8 cases with A3243G muta-tion and 1 case with G13513A mutation.Five mothers had the same A3243G mutation site in 8 cases.Conclusions Children with MELAS have complex and varied clinical manifestations and certain characteristic of neuroimaging.More-over,muscle pathology and gene sequencing have important diagnostic value.Fully understanding the clinical,muscle pathology,imaging and molecular biological characteristics of children with MELAS can be helpful to the early diagnosis and treatment,also reduce misdiagnosis.

Clinical features of child mitochondrial encephalopathy with lactic acidosis and stroke with status epileptics / 临床儿科杂志

Objective To investigate the clinical features and treatment of a group of patients of mitochondrial encepha-lomyopathy with actic acidosis and stroke (MELAS) with onset of status epileptics. Methods Clinical features, EEGs, image ifndings, and therapeutic data of 4 cases with onset of status epileptics patients ifnally diagnosed as MELAS were retrospectively reviewed. Results Four Patients were onset with status epileptics. The levels of serum lactic acid, ammonia, myocardial enzymes were increased, and the serum sodium level was reduced, and accompanied with metabolic acidosis. EEG found corresponding paroxysmal and interictal activities. Brain images showed basal ganglia calciifcation, brain atrophy, and acute cortex edema. Genetic detection found mtDNA3243 mutation. Conclusions The status epilepticus was commonly present in MELAS. The treatment of epileptic attack in this disease was dififcult, which needs early diagnosis. Appropriate anti-leptic drugs and relevant treatment to symptoms are important to alleviate cerebral injury.

Children with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome：two cases report / 临床儿科杂志

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.

MR Imaging and Proton Spectroscopic Study of Stroke-like Episodes in MELAS / 实用放射学杂志

Objective To study the characteristics of MR imaging and proton MR spectrscopy(~1H MRS)of stroke-like lesions in MELAS.Methods Clinical,MR imaging and proton spectroscopic findings of stroke-like lesions in 7 patients with confirmed MELAS were analyzed retrospectively.Results A total of 12 MR investigations had been performed in 7 patients.Stroke-like lesions showed by MR imaging included superacute in 12,acute in 12,subacute in 10 and chronic stage in 6.Early stroke-like lesions were demonstrated as focal edematous foci mainly involved cortex/subcotical areas of occipital,temporal and parietal lobes.At MR diffusion imaging,stroke-like lesions in the superacute(＜3 days)stage were showed as well-circumscribed lesions with high signal intensities for cytotoxic edema.During the acute(4～7 days),sub-acute(2～4 weeks)and chronic(＞4 weeks)stages,the lesions gradually expanded,and became blur,and presented with vasogenic edema mainly.Proton spectroscopy showed a prominently elevated lactate,varied decrease of NAA concentration and other brain motabolites in the stroke-like lesions early after onset,and depicted gradual decrease of lactate level and partial recovery of NAA concentration subsequently.Conclusion Stroke-like lesions in MELAS mainly involve the cerebral cortex and subcortical areas,in which cytotoxic edema appears early but for a short period.In ~1H MRS,the lesions are characterized by a double lactate peak with decrease of NAA concentration.

Differential diagnosis of central nervous system vasculitis and mitochondrial encephalomyopathy / 第二军医大学学报

Objective: To compare the clinical and imaging characteristics between central nervous system vasculitis (CNSV) and mitochondrial encephalomyopathy (ME), so as to analyze the differential diagnosis of the two disorders. Methods: Clinical data on seven patients with CNSV and five with ME were retrospectively analyzed. The clinical manifestations, laboratory parameters, imaging features and histological characteristics were compared to screen for the evidence of their differential diagnosis. Results: The MRI results of both CNSV patients and ME patients (MELAS type) showed a multi-lesion pattern. The symptoms of CNSV patients included headache, limbs weakness, and erythrocyte sedimentation rate (ESR) increase. The symptoms of MELAS patients included epilepsy and increased serum lactic acid. The electroencephalographic manifestations of both diseases were abnormal: CNSV patients mainly had diffused lesions accompanied with limited alterations; ME patients had evidence of epileptic discharge, which was consistent with the clinical symptoms. Conclusion: Clinical manifestations of CNSV and ME patients are more valuable than imaging findings in the diagnosis of the two diseases. CNSV is characterized by vascular disorders and inflammatory reactions; ME is characterized by abnormal energy metabolism and severe damage of gray matter. The final diagnosis should depend on laboratory and histological examinations.

Mitochondrial DNA mutation analysis in patients with mitochondrial encephalomyopathy / 医学研究生学报

Objective:To examine mitochondrial DNA mutations in mitochondrial encephalomyopathy.Methods:Three cases of mitochondrial encephalomyopathy were examined by HE staining,histochemical staining methods and electron microscopy.The mutations in mitochondrial genome were studied by polymerase chain reaction /restriction enzyme digestion. Results: The three cases were diagnosed as mitochondrial encephalomyopathy.The examinations revealed that patient 1 and 2 had a heteroplasmic A3243G mutation in tRNA~(leu) gene,and patient 3 had a heteroplasmic A8344G mutation in tRNA~(lys) gene.Conclusion:tRNA gene mutations of mtDNA might be one of the etiologies of mitochondrial encephalomyopathy.

Mitochondrial Encephalomyopathy in Children:MRI Appearances / 实用放射学杂志

Objective To study MR findings in 20 children aged from 10 months to 14 years with mitochondrial encephalomyopathy.Methods MRI evaluations were done in 20 children with mitochondrial encephalomyopathy proved by muscle biopsy and biochemical laboratory examinations.Results Brain parenchymal lesions in all cases were low signal intensity on T 1-weighted and high signal intensity on T 2-weighted images.Brain atrophy was showed in different degrees in 8 children.18 patients had involvement of gray matter,10 had only the deep gray matter involved and 4 cases had both the deep gray matter and the cerebral cortex involved simultaneously.4 patients showed deep gray matter abnormalities and cerebral infarction with involvement of cortex and subcortical white matter.2 patients had exclusively involvement of white matter,which were nonspecific white matter changes of the trigonal area.Conclusion MRI findings in mitochondrial encephalomyopathy are varied when gray matter especially deep gray matter involved,brain atrophy,untypical infarction and involvement of peripheral white matter are showed on MR,and associated with a variety of neuromuscular symptoms in children mitochondrial encephalomyopathy should be consider.

MRI Manifestations of MELAS Syndrome / 实用放射学杂志

Objective To investigate MR imaging characteristics of MELAS syndrome.Methods The clinical data and MRI features of 13 cases with MELAS syndrome were retrospectively analyzed.Results Multiple hypointense on T1WI and hyperintense on T2WI lesions were showed predominantly in the gray matter of the temporal, parietal and occipital lobes. The lesions crossed vascular boundaries. No stenosis and occlusion of main artery were displayed by MRA.Basal ganglia calcifications and cerebral atrophy with widening of ventricles were also frequent found. Increased ADC value of the leison on DWI and appearance of Lac peak on1H-MRS were useful in diagnosis.Conclusion There are some characteristics of MRI in patients with MELAS syndrome.Combined clinical informations with neuroimaging and muscle biopsy, the diagnosis of MELAS syndrome can be made correctly.

The imaging diagnostic value of mitochondrial encephalomyopathy / 中华放射学杂志

Objective To evaluate the role of several imaging technology in the diagnosis of patients with mitochondrial encephalomyopathy.Methods Clinical and image findings of 11 cases of mitochondrial encephalomyopathy were retrospectively analyzed.9 patients were studied with MR,2 patients with MRA and DSA,3 patients with CT plain scan,and 1 patient with positron emission tomography (PET).Results CT and MR imaging showed multiple or migrating infarct-like lesions in 9 cases,mainly involving the posterior temporal and occipital regions which crossed vascular boundaries.Lesions were distributed in the temporo- occipital and parietal lobes in 7 cases,bilateral thalamus in 1 case,the brainstem,cerebellum,and the deep cerebral white matter in 1 case.Other lesions demonstrated as cerebellum atrophy in 1 case,syringomyelia in thoracic spinal cord in 1 case.PET showed the metabolic rate of glucose was elevated early in the acute phase and reduced in the recovery phase.Conclusion The examination combined with several imaging methods will help to improve the imaging diagnosis.

Tc-99m ECD Brain SPECT in MELAS Syndrome and Mitochondrial Myopathy: Comparison with MR findings / 대한핵의학회잡지

PURPOSE: We evaluated brain perfusion SPECT findings of MELAS syndrome and mitochondrial myopathy in correlation with MR imaging in search of specific imaging features. MATERIALS AND METHODS: Subjects were five patients (four females and one male; age range, 1 to 25 year) who presented with repeated stroke-like episodes, seizures or developmental delay or asymptomatic but had elevated lactic acid in CSF and serum. Conventional non-contrast MR imaging and Tc-99m-ethyl cysteinate dimer (ECD) brain perfusion SPECT were performed and imaging features were analyzed. RESULTS: MRI demonstrated increased T2 signal intensities in the affected areas of gray and white matters mainly in the parietal (4/5) and occipital lobes (4/5) and in the basal ganglia (1/5), which were not restricted to a specific vascular territory. SPECT demonstrated decreased perfusion in the corresponding regions of MRI lesions. In addition, there were perfusion defects in parietal (1 patient), temporal (2), and frontal (1) lobes and basal ganglia (1) and thalami (2). In a patient with mitochondrial myopathy who had normal MRI, decreased perfusion was noted in left parietal area and bilateral thalami. CONCLUSION: Tc-99m ECD SPECT imaging in patients with MELAS syndrome and mitochondrial myopathy showed hypoperfusion of parieto-occipital cortex, basal ganglia, thalamus and temporal cortex, which were not restricted to a specific vascular territory. There were no specific imaging features on SPECT. The significance of abnormal perfusion on SPECT without corresponding MR abnormalities needs to be evaluated further in larger number of patients.

Diagnostic Value of MRI in the Mitochondrial Encephalomyopathy in Children / 实用放射学杂志

Objective To study diagnostic value of MRI in the mitochondrial encephalomyopathy about children.Methods 16 patients of mitochondrial encephalomyopathy in children had been examinatd with MR,proved by patholigy and biochemical laboratory examinations from 1996 to 2000.All of informations were retrospectively analysed.Results Brain parenchymal lesions in all cases were low signal intensity on T 1-weighted and high signal imtensity on T 2-weighted images.16 patients with mitochondrial encephalomyopathe of children,9 patients of them had only the deep gray matter involved,4 patients had both the deep gray matter and the cerebral cortex involved simultsneously,2 patients had with involvement of cortex and subcortical white matter,1 patient had exclusitvely involvement of white matter.Conclusion The varied clinical and MRI findings are the characteristic of mitochondrial encephalomyopathy,MRI has better helping to the diagnosis of mitochondrial encephalomyopathy in children.

Differential diagnosis of central nervous system vasculitis and mitochondrial encephalomyopathy / 第二军医大学学报

Objective:To compare the clinical and imaging characteristics between central nervous system vasculitis(CNSV)and mitochondrial encephalomyopathy(ME),so as to analyze the differential diagnosis of the two disorders.Methods:Clinical data on seven patients with CNSV and five with ME were retrospectively analyzed.The clinical manifestations,laboratory parameters,imaging features and histological characteristics were compared to screen for the evidence of their differential diagnosis.Results:The MRI results of both CNSV patients and ME patients(MELAS type)showed a multi-lesion pattern.The symptoms of CNSV patients included headache,limbs weakness,and erythrocyte sedimentation rate(ESR)increase.The symptoms of MELAS patients included epilepsy and increased serum lactic acid.The electroencephalographic manifestations of both diseases were abnormal:CNSV patients mainly had diffused lesions accompanied with limited alterations;ME patients had evidence of epileptic discharge,which was consistent with the clinical symptoms.Conclusion:Clinical manifestations of CNSV and ME patients are more valuable than imaging findings in the diagnosis of the two diseases.CNSV is characterized by vascular disorders and inflammatory reactions;ME is characterized by abnormal energy metabolism and severe damage of gray matter.The final diagnosis should depend on laboratory and histological examinations.