The interesting case report by Zhang et al on a 39 years-old male with Charcot-Marie-Tooth disease type 1X has several limitations.The causal relation between the two episodes of asyndesis,dysphagia,and dyspnea 37 d a...The interesting case report by Zhang et al on a 39 years-old male with Charcot-Marie-Tooth disease type 1X has several limitations.The causal relation between the two episodes of asyndesis,dysphagia,and dyspnea 37 d after the second dose of the inactivated severe acute respiratory syndrome-coronavirus-2(SARS-CoV-2)vaccine(Beijing Institute of Biological Products Co.,Ltd.,Beijing,China)remains unproven.SARS-CoV-2 vaccination cannot trigger a genetic disorder.It also remains unsupported that the patient had a stroke-like episode(SLE).SLEs occur in mitochondrial disorders but not in hereditary neuropathies.Because of the episodic nature of the neurological symptoms,it is critical to rule out seizures.Overall,the causal relation between vaccination and the neurological complications remains unsupported and the interpretation of symmetric diffusionweighted imaging lesions on cerebral magnetic resonance imaging should be carefully revised.展开更多
Objective To study the characteristics of spectra on proton magnetic resonance spectroscopy （^1H-MRS） and its value in patients with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes （ME...Objective To study the characteristics of spectra on proton magnetic resonance spectroscopy （^1H-MRS） and its value in patients with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes （MELAS）. Methods Seven clinically diagnosed patients with MELAS underwent magnetic resonance imaging （MRI） and ^1H-MRS examinations. The ^1H-MRS techniques, characteristics of the spectra, and its correlation with the laboratory tests were analyzed. Reaults Cerebral abnormalities were revealed in all 7 patients on conventional MR images, and most abnormal signals were observed in bilateral occipital, parietal, and temporal lobes. We found 4 cases with basal ganglia involvement, 2 cases with mild frontal lobe lesions, and 1 case with involvement of lateral cerebral peduncles and thalami. Additionally, 1 patient was involved with left insular lobe. Spectra from prominent lesions in brain parenchyma showed lactate doublet peak in 6 patients, 3 of whom were also noted lactate peak in ventricular cerehrospinal fluid （CSF）. Conclusion ^1H-MRS may provide more direct information about the metabolism changes, which aids to affirm the diagnosis, and may replace the conventional invasive method of quantifying lactate in CSF.展开更多
This report presents a case of massive mucosal necrosis of the small intestine in a patient with mitochondrial myopathy,encephalopathy,lactic acidosis,and stroke-like episodes(MELAS),which particularly affects the bra...This report presents a case of massive mucosal necrosis of the small intestine in a patient with mitochondrial myopathy,encephalopathy,lactic acidosis,and stroke-like episodes(MELAS),which particularly affects the brain,nervous system and muscles.A 45-year-old Japanese female,with an established diagnosis of MELAS,presented with vomiting.Computed tomography showed portomesenteric venous gas and pneumatosis intestinalis.She underwent a resection of the small intestine.A microscopic study showed necrosis of the mucosa and vacuolar degeneration of smooth muscle cells in the arterial wall.Immunohistochemistry showed anti-mitochondrial antibody to be highly expressed in the crypts adjacent the necrotic mucosa.The microscopic and immunohistochemical findings suggested the presence of a large number of abnormal mitochondria in MELAS to be closely linked to mucosal necrosis of the small intestine.展开更多
In a recent article Fu et al reported about a 52 years old female with a mitochondrial disorder due to the variant m.10158T>C in the mtDNA located gene MT-ND3.The study has a number of shortcomings.The study would ...In a recent article Fu et al reported about a 52 years old female with a mitochondrial disorder due to the variant m.10158T>C in the mtDNA located gene MT-ND3.The study has a number of shortcomings.The study would particularly profit from providing more data about multisystem disease,from providing the current medication,the cerebro-spinal fluid findings,the detailed phenotypic presentation,and the genotype of first-degree relatives.Since the index patient had experienced recurrent seizures it is crucial to know the current and previous anti-seizure medication as it may strongly determine the outcome.Some of them are mitochondrion-toxic and particularly valproic acid may exhibit fatal side effects.The outcome may also depend on the degree of multisystem involvement why it is crucial to prospectively investigate the patient for subclinical involvement of organs not obviously affected.Additionally,the outcome of the stroke-like lesions on imaging would be interesting to see.Strokelike lesions may completely disappear or may end up as white matter lesion,laminar cortical necrosis,focal atrophy,cyst,or as the so-called toenail sign.There is also a need of discussing more profoundly the imaging findings and their diagnostic significance and to investigate first degree relatives of the index patient clinically and genetically.Though highly interesting,the presentation of this case of a mitochondrial disorder lacks clinical and genetic data of the patient and his relatives.Outcome parameters,such as severity of disease,degree of progression,drugs,pathogenicity of the mutation,and multisystem involvement require a profound discussion.展开更多
BACKGROUND Severe acute respiratory syndrome coronavirus 2(SARS-CoV-2) vaccinations have been administered worldwide, with occasional reports of associated neurological complications. Specifically, the impact of vacci...BACKGROUND Severe acute respiratory syndrome coronavirus 2(SARS-CoV-2) vaccinations have been administered worldwide, with occasional reports of associated neurological complications. Specifically, the impact of vaccinations on individuals with Xlinked Charcot-Marie-Tooth disease type 1(CMTX1) is unclear. Patients with CMTX1 can have stroke-like episodes with posterior reversible encephalopathy syndrome on magnetic resonance imaging(MRI), although this is rare.CASE SUMMARY A 39-year-old man was admitted with episodic aphasia and dysphagia for 2 d. He received SARS-CoV-2 vaccination 39 d before admission. Physical examination showed pes cavus and reduced tendon reflexes. Brain MRI showed bilateral, symmetrical, restricted diffusion with T2 hyperintensities in the cerebral hemispheres. Nerve conduction studies revealed peripheral nerve damage. He was diagnosed with Charcot-Marie-Tooth disease, and a hemizygous mutation in the GJB1 gene on the X chromosome, known to be pathogenic for CMTX1, was identified. Initially, we suspected transient ischemic attack or demyelinating leukoencephalopathy. We initiated treatment with antithrombotic therapy and immunotherapy. At 1.5 mo after discharge, brain MRI showed complete resolution of lesions, with no recurrence.CONCLUSION SARS-CoV-2 vaccination could be a predisposing factor for CMTX1 and trigger a sudden presentation.展开更多
Objective： Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes （MELAS） is a progressive, multisystem affected mitochondrial disease associated with a number of disease-related defectiv...Objective： Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes （MELAS） is a progressive, multisystem affected mitochondrial disease associated with a number of disease-related defective genes. M ELAS has unpredictable presentations and clinical course, and it can be commonly misdiagnosed as encephalitis, cerebral infarction, or brain neoplasms. This review aimed to update the diagnosis progress in MELAS, which may provide better understanding of the disease nature and help make the right diagnosis as well. Data Sources： The data used in this review came fi-om published peer review articles from October 1984 to October 2014, which were obtained fiom PubMed. The search term is ＂MELAS＂, Study Selection： lnfornmtion selected from those reported studies is mainly based on the progress on clinical tkatures, blood biochemistry, neuroimaging, muscle biopsy, and genetics in diagnosing MELAS. Results： MELAS has a wide heterogeneity in genetics and clinical manifestations. The relationship between mutations and phenotypes remains unclear. Advanced serial functional magnetic resonance imaging （MRI） can provide directional information on this disease. Muscle biopsy has meaningflil value in diagnosing MELAS, which shows the presence of ragged red fibers and mosaic appearance of cytochrome oxidase negative fibers. Genetic studies have reported that approximately 80% of MELAS cases are caused by the lnutation in.3243A〉G of the mitochondrial transfer RNA （Leu （UU R）） gene （MT-TLI）. Conclusions： MELAS involves multiple systems with variable clinical symptoms and recurrent episodes. The prognosis of MELAS patients depends on timely diagnosis. Therefore, overall diagnosis of MELAS should be based on the maternal inheritance family history, clinical manifestation, and findings from serial MR1, muscle biopsy, and genetics.展开更多
Objective：To summarize the clinical presentation,pathogenesis,neuroimaging,treatment,and outcome of stroke-like migraine attacks after radiation therapy （SMART） syndrome,and to propose diagnostic criteria for this ...Objective：To summarize the clinical presentation,pathogenesis,neuroimaging,treatment,and outcome of stroke-like migraine attacks after radiation therapy （SMART） syndrome,and to propose diagnostic criteria for this disorder.Data Sources：We searched the PubMed database for articles in English published from 1995 to 2015 using the terms of ＂stroke-like AND migraine AND radiation.＂ Reference lists of the identified articles and reviews were used to retrieve additional articles.Study Selection：Data and articles related to late-onset effects of cerebral radiation were selected and reviewed.Results：SMART is a rare condition that involves complex migraines with focal neurologic deficits following cranial irradiation for central nervous system malignancies.The recovery,which ranges from hours to days to weeks,can be partial or complete.We propose the following diagnostic criteria for SMART：（1） Remote history of therapeutic external beam cranial irradiation for malignancy;（2） prolonged,reversible clinical manifestations mostly years after irradiation,which may include migraine,seizures,hemiparesis,hemisensory deficits,visuospatial defect,aphasia,confusion and so on;（3） reversible,transient,unilateral cortical gadolinium enhancement correlative abnormal T2 and fluid-attenuated inversion recovery signal of the affected cerebral region;（4） eventual complete or partial recovery,the length of duration of recovery ranging from hours to days to weeks;（5） no evidence of residual or recurrent tumor;（6） not attributable to another disease.To date,no specific treatment has been identified for this syndrome.Conclusions：SMART is an extremely rare delayed complication of brain irradiation.However,improvements in cancer survival rates have resulted in a rise in its frequency.Hence,awareness and recognition of the syndrome is important to make a rapid diagnosis and avoid aggressive interventions such as brain biopsy and cerebral angiography.展开更多
The first description of a syndrome including stroke-like episodes, lactic acidaemia, and ragged red fibres, was reported by Shapira et al in 1975. 1 Pavlakis et al 2 described further cases, introduced the acr...The first description of a syndrome including stroke-like episodes, lactic acidaemia, and ragged red fibres, was reported by Shapira et al in 1975. 1 Pavlakis et al 2 described further cases, introduced the acronym MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes), and suggested that this represented a distinct mitochondrial disease phenotype. In 1990, Goto et al 3 identified A3243G mutation in the transfer RNA (tRNA) leucine (UUR) gene in some patients with MELAS. Although this mutation has now been established to be the commonest mtDNA defect it is often misdiagnosed. Here we report a kindred of MELAS including a mother and a son. Clinical, pathological and genetic studies are proceeding.展开更多
文摘The interesting case report by Zhang et al on a 39 years-old male with Charcot-Marie-Tooth disease type 1X has several limitations.The causal relation between the two episodes of asyndesis,dysphagia,and dyspnea 37 d after the second dose of the inactivated severe acute respiratory syndrome-coronavirus-2(SARS-CoV-2)vaccine(Beijing Institute of Biological Products Co.,Ltd.,Beijing,China)remains unproven.SARS-CoV-2 vaccination cannot trigger a genetic disorder.It also remains unsupported that the patient had a stroke-like episode(SLE).SLEs occur in mitochondrial disorders but not in hereditary neuropathies.Because of the episodic nature of the neurological symptoms,it is critical to rule out seizures.Overall,the causal relation between vaccination and the neurological complications remains unsupported and the interpretation of symmetric diffusionweighted imaging lesions on cerebral magnetic resonance imaging should be carefully revised.
文摘Objective To study the characteristics of spectra on proton magnetic resonance spectroscopy （^1H-MRS） and its value in patients with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes （MELAS）. Methods Seven clinically diagnosed patients with MELAS underwent magnetic resonance imaging （MRI） and ^1H-MRS examinations. The ^1H-MRS techniques, characteristics of the spectra, and its correlation with the laboratory tests were analyzed. Reaults Cerebral abnormalities were revealed in all 7 patients on conventional MR images, and most abnormal signals were observed in bilateral occipital, parietal, and temporal lobes. We found 4 cases with basal ganglia involvement, 2 cases with mild frontal lobe lesions, and 1 case with involvement of lateral cerebral peduncles and thalami. Additionally, 1 patient was involved with left insular lobe. Spectra from prominent lesions in brain parenchyma showed lactate doublet peak in 6 patients, 3 of whom were also noted lactate peak in ventricular cerehrospinal fluid （CSF）. Conclusion ^1H-MRS may provide more direct information about the metabolism changes, which aids to affirm the diagnosis, and may replace the conventional invasive method of quantifying lactate in CSF.
文摘This report presents a case of massive mucosal necrosis of the small intestine in a patient with mitochondrial myopathy,encephalopathy,lactic acidosis,and stroke-like episodes(MELAS),which particularly affects the brain,nervous system and muscles.A 45-year-old Japanese female,with an established diagnosis of MELAS,presented with vomiting.Computed tomography showed portomesenteric venous gas and pneumatosis intestinalis.She underwent a resection of the small intestine.A microscopic study showed necrosis of the mucosa and vacuolar degeneration of smooth muscle cells in the arterial wall.Immunohistochemistry showed anti-mitochondrial antibody to be highly expressed in the crypts adjacent the necrotic mucosa.The microscopic and immunohistochemical findings suggested the presence of a large number of abnormal mitochondria in MELAS to be closely linked to mucosal necrosis of the small intestine.
文摘In a recent article Fu et al reported about a 52 years old female with a mitochondrial disorder due to the variant m.10158T>C in the mtDNA located gene MT-ND3.The study has a number of shortcomings.The study would particularly profit from providing more data about multisystem disease,from providing the current medication,the cerebro-spinal fluid findings,the detailed phenotypic presentation,and the genotype of first-degree relatives.Since the index patient had experienced recurrent seizures it is crucial to know the current and previous anti-seizure medication as it may strongly determine the outcome.Some of them are mitochondrion-toxic and particularly valproic acid may exhibit fatal side effects.The outcome may also depend on the degree of multisystem involvement why it is crucial to prospectively investigate the patient for subclinical involvement of organs not obviously affected.Additionally,the outcome of the stroke-like lesions on imaging would be interesting to see.Strokelike lesions may completely disappear or may end up as white matter lesion,laminar cortical necrosis,focal atrophy,cyst,or as the so-called toenail sign.There is also a need of discussing more profoundly the imaging findings and their diagnostic significance and to investigate first degree relatives of the index patient clinically and genetically.Though highly interesting,the presentation of this case of a mitochondrial disorder lacks clinical and genetic data of the patient and his relatives.Outcome parameters,such as severity of disease,degree of progression,drugs,pathogenicity of the mutation,and multisystem involvement require a profound discussion.
基金Supported by Shenzhen Science and Technology Project,No. SGLH20180628161804465The Clinical Research Project of The First Affiliated Hospital of Shenzhen University,No. 20203357035 and No. 20223357021。
文摘BACKGROUND Severe acute respiratory syndrome coronavirus 2(SARS-CoV-2) vaccinations have been administered worldwide, with occasional reports of associated neurological complications. Specifically, the impact of vaccinations on individuals with Xlinked Charcot-Marie-Tooth disease type 1(CMTX1) is unclear. Patients with CMTX1 can have stroke-like episodes with posterior reversible encephalopathy syndrome on magnetic resonance imaging(MRI), although this is rare.CASE SUMMARY A 39-year-old man was admitted with episodic aphasia and dysphagia for 2 d. He received SARS-CoV-2 vaccination 39 d before admission. Physical examination showed pes cavus and reduced tendon reflexes. Brain MRI showed bilateral, symmetrical, restricted diffusion with T2 hyperintensities in the cerebral hemispheres. Nerve conduction studies revealed peripheral nerve damage. He was diagnosed with Charcot-Marie-Tooth disease, and a hemizygous mutation in the GJB1 gene on the X chromosome, known to be pathogenic for CMTX1, was identified. Initially, we suspected transient ischemic attack or demyelinating leukoencephalopathy. We initiated treatment with antithrombotic therapy and immunotherapy. At 1.5 mo after discharge, brain MRI showed complete resolution of lesions, with no recurrence.CONCLUSION SARS-CoV-2 vaccination could be a predisposing factor for CMTX1 and trigger a sudden presentation.
基金a grant from the key project of the National Science Foundation of China
文摘Objective： Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes （MELAS） is a progressive, multisystem affected mitochondrial disease associated with a number of disease-related defective genes. M ELAS has unpredictable presentations and clinical course, and it can be commonly misdiagnosed as encephalitis, cerebral infarction, or brain neoplasms. This review aimed to update the diagnosis progress in MELAS, which may provide better understanding of the disease nature and help make the right diagnosis as well. Data Sources： The data used in this review came fi-om published peer review articles from October 1984 to October 2014, which were obtained fiom PubMed. The search term is ＂MELAS＂, Study Selection： lnfornmtion selected from those reported studies is mainly based on the progress on clinical tkatures, blood biochemistry, neuroimaging, muscle biopsy, and genetics in diagnosing MELAS. Results： MELAS has a wide heterogeneity in genetics and clinical manifestations. The relationship between mutations and phenotypes remains unclear. Advanced serial functional magnetic resonance imaging （MRI） can provide directional information on this disease. Muscle biopsy has meaningflil value in diagnosing MELAS, which shows the presence of ragged red fibers and mosaic appearance of cytochrome oxidase negative fibers. Genetic studies have reported that approximately 80% of MELAS cases are caused by the lnutation in.3243A〉G of the mitochondrial transfer RNA （Leu （UU R）） gene （MT-TLI）. Conclusions： MELAS involves multiple systems with variable clinical symptoms and recurrent episodes. The prognosis of MELAS patients depends on timely diagnosis. Therefore, overall diagnosis of MELAS should be based on the maternal inheritance family history, clinical manifestation, and findings from serial MR1, muscle biopsy, and genetics.
文摘Objective：To summarize the clinical presentation,pathogenesis,neuroimaging,treatment,and outcome of stroke-like migraine attacks after radiation therapy （SMART） syndrome,and to propose diagnostic criteria for this disorder.Data Sources：We searched the PubMed database for articles in English published from 1995 to 2015 using the terms of ＂stroke-like AND migraine AND radiation.＂ Reference lists of the identified articles and reviews were used to retrieve additional articles.Study Selection：Data and articles related to late-onset effects of cerebral radiation were selected and reviewed.Results：SMART is a rare condition that involves complex migraines with focal neurologic deficits following cranial irradiation for central nervous system malignancies.The recovery,which ranges from hours to days to weeks,can be partial or complete.We propose the following diagnostic criteria for SMART：（1） Remote history of therapeutic external beam cranial irradiation for malignancy;（2） prolonged,reversible clinical manifestations mostly years after irradiation,which may include migraine,seizures,hemiparesis,hemisensory deficits,visuospatial defect,aphasia,confusion and so on;（3） reversible,transient,unilateral cortical gadolinium enhancement correlative abnormal T2 and fluid-attenuated inversion recovery signal of the affected cerebral region;（4） eventual complete or partial recovery,the length of duration of recovery ranging from hours to days to weeks;（5） no evidence of residual or recurrent tumor;（6） not attributable to another disease.To date,no specific treatment has been identified for this syndrome.Conclusions：SMART is an extremely rare delayed complication of brain irradiation.However,improvements in cancer survival rates have resulted in a rise in its frequency.Hence,awareness and recognition of the syndrome is important to make a rapid diagnosis and avoid aggressive interventions such as brain biopsy and cerebral angiography.
基金ThisworkwassupportedbythegrantsfromtheGuangdongNaturalScienceFoundationProgram (No 31694 )andtheGuangdongNaturalScienceFoundationKeyProgram (No21894)
文摘The first description of a syndrome including stroke-like episodes, lactic acidaemia, and ragged red fibres, was reported by Shapira et al in 1975. 1 Pavlakis et al 2 described further cases, introduced the acronym MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes), and suggested that this represented a distinct mitochondrial disease phenotype. In 1990, Goto et al 3 identified A3243G mutation in the transfer RNA (tRNA) leucine (UUR) gene in some patients with MELAS. Although this mutation has now been established to be the commonest mtDNA defect it is often misdiagnosed. Here we report a kindred of MELAS including a mother and a son. Clinical, pathological and genetic studies are proceeding.
