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粒線體疾病 (Disease (共同臨床特徵 (多器官影響(眼睛、腦、心、腎等), Short stature, Neuro-sensory…
粒線體疾病
Disease
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Leigh syndrome
症狀表現
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Classic presentation
- central hypotonia
- developmental regression or arrest
- signs of brainstem or basal ganglia involvement
Possible outlook
developmental delay, seizures, altered consciousness, failure to thrive, pericardial effusion, and dilated cardiomyopathy
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共同臨床特徵
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Blood, CSF中容易產生lactic acidosis
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- CNS:agenesis of corpus callosum等
- eye
- ENT
- skeletal problem
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MELAS
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drial encephalopathy, lactic acidosis, and stroke-like episodes
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