Mitochondrial Encephalomyopathies: CT and MRI Findings and Correlations with Clinical Features

Huang, Chin‐Chang; Wai, Yau‐Yau; Chu, Nai‐Shin; Liou, Chia‐Wei; Pang, Cheng‐Yoong; Shih, Kwang-Dar; Wei, Yau‐Huei

doi:10.1159/000117128

Cited by 34 publications

(25 citation statements)

References 16 publications

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“…Although stroke may be considered a symptom of MELAS syndrome, the lesion in our subject was located in basal ganglia, which are not usually affected in MELAS patients. 26,27) Because the observed interatrial communications are typical pathologies in young adults with stroke of cardioembolic origin, we assume the stroke was not a manifestation of MELAS syndrome.…”

Section: Discussionmentioning

confidence: 99%

Hypertrophic Cardiomyopathy Due to the Mitochondrial DNA Mutation m.3303C>T Diagnosed in an Adult Male

et al. 2012

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SummaryMitochondrial disorders comprise a heterogeneous group of diseases with multisystem involvement including myocardium. Most cases of mitochondrial cardiomyopathy are associated with myopathy and encephalopathy and are generally present in infancy or childhood. The disease often exhibits a rapid downward course with death frequently occuring within the first year of life. We describe a unique case of hypertrophic cardiomyopathy due to mitochondrial DNA mutation m.3303C >T in the MT-TL1 gene, diagnosed accidentally in a 35-year-old male. The patient initially presented with stroke of assumed cardioembolic origin due to the presence of two interatrial communications associated with mobile aneurysm of the interatrial septum. No other extracardiac manifestations of mitochondrial disorder were observed. (Int Heart J 2012; 53: 383-387) Key words: Mitochondrial disease, Short PR interval M itochondrial diseases are a heterogeneous group of disorders that result from the structural, biochemical, or genetic derangement of mitochondria. 1)These syndromes are multisystemic and virtually every organ system can be affected. Cardiac involvement is frequently observed as an initial symptom of mitochondrial diseases, 2,3) however in the majority of cases it is combined with impairment of other organs. On the other hand, cardiac involvement rarely causes presenting symptoms in adulthood. 4) We describe a unique case of hypertrophic cardiomyopathy due to mitochondrial DNA mutation m.3303C>T in the MT-TL1 gene, diagnosed accidentally in an adult male. The patient initially presented with stroke of assumed cardioembolic origin due to the presence of patent foramen ovale and an atrial septal defect associated with mobile aneurysm of the interatrial septum. No other extracardiac manifestations of mitochondrial disorder were present. Case ReportA 35-year-old man with no medical history was initially referred to the neurological department with sudden onset of mixed aphasia, right-sided hemiparesis, and central paresis of the facial nerve lasting for 4 hours. On admission, physical examination revealed no other abnormalities, blood pressure was 110/70 mmHg and pulse rate 100/minute. The ECG showed sinus rhythm with no apparent abnormalities as interpreted by the attending neurologist. A CT scan demonstrated left-sided basal ganglia hemorrhage combined with trace subarachnoidal hemorrhage in the left sylvian region. Subsequent CT examination performed during the first week of hospitalization confirmed the presence of an atypical putaminal hemorrhage that was interpreted as a hemorrhagical transformation of the original ischemic lesion in the territory of the left middle cerebral artery. Duplex ultrasound imaging did not reveal any atherosclerotic plaques or congenital pathology of carotid arteries. After 3 weeks of intensive rehabilitation, when complete recovery of the neurological status was achieved, the patient was referred to the cardiology department for further evaluation regarding a possible cardioembolic origin of the ...

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Section: Discussionmentioning

confidence: 99%

Hypertrophic Cardiomyopathy Due to the Mitochondrial DNA Mutation m.3303C>T Diagnosed in an Adult Male

et al. 2012

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“…NARP). Mais recentemente, têm sido relatados casos que não se enquadram em uma síndrome e sim em uma superposição destas síndromes 3,4 .…”

Section: Fig 1 Rm De Crânio Corte Axial T 1 (A) E Flair (B) Revelanunclassified

“…O estudo radiológico pode revelar atrofia cerebral, cerebelar e de tronco cerebral, calcificações, hidrocefalia ex-vácuo, alterações de sinal na substância branca principalmente periventricular 4,7,8 . No presente caso foram observadas essas alterações.…”

Section: Fig 1 Rm De Crânio Corte Axial T 1 (A) E Flair (B) Revelanunclassified

“…As lesões encefálicas devidas aos episódios "strokelike" podem regredir completamente, sugerindo assim uma fisiopatologia diferente do AVC 4 . Seu mecanismo está relacionado à isquemia celular devida à alteração mitocondrial e estreitamento do lúmem capilar, secundário ao edema celular endotelial 9 .…”

Section: Fig 1 Rm De Crânio Corte Axial T 1 (A) E Flair (B) Revelanunclassified

“…O estudo histopatológico muscular destes pacientes, em geral, demonstra fibras vermelhas rotas rajadas (RRF), porém a sua ausência não invalida o diagnóstico 3,4,8 . Há ainda possibilidade de não haver RRF inicialmente e em outro momento estarem presentes de acordo com a progressão da doença.…”

Section: Fig 1 Rm De Crânio Corte Axial T 1 (A) E Flair (B) Revelanunclassified

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Síndrome psicótica evoluindo com demência como manifestação clinica de deleção do DNA mitocondrial

Vasconcellos

Leite

Cavalcanti

et al. 2007

Arq. Neuro-Psiquiatr.

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RESUMO -As manifestações das doenças mitocondriais são variadas, acometendo, mais freqüentemente, órgãos com alto metabolismo aeróbico em que são mais abundantes, como, por exemplo, o sistema nervoso. O início dos sintomas em geral é observado na infância havendo relatos de início na idade adulta. Apresentamos caso atípico de doença mitocondrial associada à deleção do DNA mitocondrial em um homem de 39 anos com sintomas psiquiátricos configuraram quadro clínico inicial e somente 12 anos após o início dos sintomas surgiram alterações neurológicas. O diagnóstico da doença mitocondrial foi confirmado por biópsia de músculo sendo documentada deleção do DNA mitocondrial. PALAVRAS-CHAVE: demência, síndrome psicótica, mitocondriopatia, genética.Psycothic syndrome developing into dementia as a clinical manifestation of mitochondrial DNA deletion ABSTRACT -The manifestations of mitochondrial disease are variable, affecting more frequently the organs with high aerobic metabolism in which they are more abundant, for example the nervous system. The beginning of symptoms in general is observed at chilhood, but some patients presented on adult age. We present an atypical case associated with mitochondrial DNA deletion. A 39-years-old man with psychiatric symptoms that configured initial clinical picture and only after 12 years of the beginning of symptoms neurological alterations became noticeable. The diagnosis of mitochondrial illness was confirmed by muscle biopsy being documented mitochondrial DNA deletion.KEY WORDS: dementia, psychotic syndrome, mitochondriopathy, genetic.As mitocôndrias são estruturas citoplasmáticas que desempenham funções vitais na produção aeró-bica de energia, sendo a única organela das células eucarióticas a possuir DNA próprio, designado DNA mitocondrial (mtDNA). As mitocondriopatias são doenças que ao nível celular se caracterizam por disfunção na produção de energia em forma de adenosina trifosfato (ATP), resultado final da fosforilação oxidativa de glicose, ácidos graxos e aminoácidos pela mitocôndria 1 . A grande variabilidade na expressão clínica desse grupo de doenças se deve não só às importantes funções metabólicas que a mitocôndria desempenha na vida celular, mas também ao número variável de mitocôndrias nos diferentes tecidos e à sua característica particular de conter seu próprio DNA. Os órgãos preferencialmente acometidos nas doenças mitocondriais são aqueles que dependem de metabolismo aeróbico intenso, ou seja, sistema nervoso central e periférico, muscular, ocular, cardía-co, hepático, renal, endócrino, hematopoiético e gastrointestinal 1 . Costuma-se dividir as desordens mitocondriais de acordo com as alterações do DNA em três categorias: deleção única, deleção múltipla, duplicação e mutação de ponto 2 . O diagnóstico das doenças mitocondriais implica uma investigação multidisciplinar que envolve, além da análise molecular, avaliação clínica, o estudo morfológico e o estudo bioquí-mico (estudo das enzimas da cadeia respiratória mitocondrial), preferencialmente realizado em material...

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A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS‐like alternating hemiplegia

Zhang

Qiu

et al. 2023

Molec Gen & Gen Med

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Background Pathogenic variants of ATP1A2 (OMIM ID: 182340) are usually associated with familial hemiplegic migraine type 2 (FHM‐2), alternating hemiplegia of childhood (AHC), early infantile epileptic encephalopathy (EIEE), transient cytotoxic edema, and so on. Here, we present a novel heterozygous ATP1A2 variant in a girl with alternating hemiplegia, febrile seizures, developmental delay (which subsequently subsided), and MELAS‐like syndrome (as indicated by brain MRI). The patient did not experience migraine with aura. Methods The patient was an 8‐year‐old girl with normal growth and development. Beginning from the age of 3 years and 8 months, the patient experienced several episodes of alternating limb paralysis. The episodes were accompanied by the appearance of MELAS‐like findings on brain MRI, which corresponded to the hemiplegia. There were abnormal linear signals in the cerebral cortex on the opposite side of the hemiplegic limb. Each time the patient recovered from hemiplegia, and each time MRI showed no lesions remained after recovery. No obvious abnormality was found in other examinations. Finally, the patient underwent whole‐exome sequencing (WES). Results WES revealed a novel and de novo heterozygous variant in the ATP1A2 (NM_000702.3) c.335C>A:p.Ala112Asp (not previously reported). We examined the variant position in the 3D protein structure and found that a missense mutation at this site is a nonconservative substitution. The variation is nonpolymorphic. It occurs at a very low frequency in the population, and its ACMG classification is likely pathogenic. Conclusion At present, there are limited reports of mutations in the ATP1A2 gene causing AHC. This is the first case of brain MRI showing MELAS‐like imaging in an AHC patient, and more cases are needed for verification. Early genetic testing and family screening can aid in the diagnosis and treatment of genetic diseases. The relationship between ATP1A2 gene mutation genotype and clinical phenotype needs to be further studied.

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Mitochondrial Encephalomyopathies: CT and MRI Findings and Correlations with Clinical Features

Cited by 34 publications

References 16 publications

Hypertrophic Cardiomyopathy Due to the Mitochondrial DNA Mutation m.3303C>T Diagnosed in an Adult Male

Hypertrophic Cardiomyopathy Due to the Mitochondrial DNA Mutation m.3303C>T Diagnosed in an Adult Male

Síndrome psicótica evoluindo com demência como manifestação clinica de deleção do DNA mitocondrial

A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS‐like alternating hemiplegia

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