Abstract
We report an 8-year-old patient with clinical features suggesting Leigh's syndrome and with a decreased activity of the E1 component of the pyruvate dehydrogenase complex in cultured skin fibroblasts. A nerve biopsy showed the presence of severe peripheral neuropathy, rarely described in the literature. The partial correction of lactic acidosis with oral sodium bicarbonate chronic therapy may result in a slow evolution of the clinical symptoms.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Acidosis, Lactic / congenital*
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Acidosis, Lactic / drug therapy
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Acidosis, Lactic / enzymology
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Bicarbonates / therapeutic use
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Biopsy
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Brain Diseases, Metabolic / etiology*
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Child
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Fibroblasts / cytology
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Fibroblasts / enzymology*
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Humans
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Leigh Disease / enzymology
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Leigh Disease / etiology*
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Male
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Peripheral Nervous System Diseases / etiology*
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Peripheral Nervous System Diseases / pathology
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Pyruvate Dehydrogenase Complex Deficiency Disease*
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Skin / cytology
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Sodium / therapeutic use
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Sodium Bicarbonate
Substances
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Bicarbonates
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Sodium Bicarbonate
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Sodium