Sporadic Leigh syndrome (Q89275): Difference between revisions
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A síndrome de Leigh é uma doença neurológica progressiva definida por características neuropatológicas específicas que associam lesões no tronco encefálico e nos núcleos da base. Perda de marcos motores, hipotonia com mau controle da cabeça, vômitos recorrentes e distúrbio de movimento são sintomas iniciais comuns. Sinais piramidais e extrapiramidais, nistagmo, distúrbios respiratórios, oftalmoplegia e neuropatia periférica são frequentemente observados posteriormente. A epilepsia é relativamente incomum. A síndrome de Leigh tem múltiplas causas, todas as quais implicam em um defeito na produção de energia aeróbia, variando desde o complexo da piruvato desidrogenase até a via de fosforilação oxidativa. A síndrome de Leigh esporádica ocorre em casos isolados e esparsos, sem história familiar aparente. | |||||||||||||||
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Leigh syndrome is a progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions. Loss of motor milestones, hypotonia with poor head control, recurrent vomiting, and a movement disorder are common initial symptoms. Pyramidal and extrapyramidal signs, nystagmus, breathing disorders, ophthalmoplegia and peripheral neuropathy are often noted later. Epilepsy is relatively uncommon. Leigh syndrome has multiple causes, all of which imply a defect in aerobic energy production, ranging from the pyruvate dehydrogenase complex to the oxidative phosphorylation pathway. The sporadic Leigh syndrome occurs in single and scattered cases, without apparent family history. | |||||||||||||||
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CID11:ID_706425213 | |||||||||||||||
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dki-india-ID_706425213 | |||||||||||||||
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13 August 2026
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Latest revision as of 15:53, 15 August 2026
Leigh syndrome is a progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions. Loss of motor milestones, hypotonia with poor head control, recurrent vomiting, and a movement disorder are common initial symptoms. Pyramidal and extrapyramidal signs, nystagmus, breathing disorders, ophthalmoplegia and peripheral neuropathy are often noted later. Epilepsy is relatively uncommon. Leigh syndrome has multiple causes, all of which imply a defect in aerobic energy production, ranging from the pyruvate dehydrogenase complex to the oxidative phosphorylation pathway. The sporadic Leigh syndrome occurs in single and scattered cases, without apparent family history.
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| default for all languages | ID_706425213 |
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| English | Sporadic Leigh syndrome |
Leigh syndrome is a progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions. Loss of motor milestones, hypotonia with poor head control, recurrent vomiting, and a movement disorder are common initial symptoms. Pyramidal and extrapyramidal signs, nystagmus, breathing disorders, ophthalmoplegia and peripheral neuropathy are often noted later. Epilepsy is relatively uncommon. Leigh syndrome has multiple causes, all of which imply a defect in aerobic energy production, ranging from the pyruvate dehydrogenase complex to the oxidative phosphorylation pathway. The sporadic Leigh syndrome occurs in single and scattered cases, without apparent family history. |
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CID11:ID_706425213
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dki-india-ID_706425213
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Concluído
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13 August 2026
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