Abstract
We describe a 4-month-old male patient with severe developmental delay and elevated lactate in blood and CSF. The MR images showed abnormalities differing from the typical pattern found in association with Leigh's disease. The examination of fibroblast cultures showed diminished activity of mitochondrial complexes I and III. The patient died at the age of 9 months.
MeSH terms
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Developmental Disabilities / complications
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Electron Transport Complex II
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Fatal Outcome
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Fibroblasts / enzymology
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Humans
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Infant
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Lactic Acid / blood
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Lactic Acid / cerebrospinal fluid
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Leigh Disease / complications
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Leigh Disease / diagnosis*
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Leigh Disease / metabolism
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Magnetic Resonance Imaging
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Male
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Mitochondria / enzymology
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Multienzyme Complexes / metabolism
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NAD(P)H Dehydrogenase (Quinone) / metabolism
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Oxidoreductases / metabolism
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Psychomotor Disorders / complications
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Succinate Dehydrogenase / metabolism
Substances
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Multienzyme Complexes
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Lactic Acid
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Oxidoreductases
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Electron Transport Complex II
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Succinate Dehydrogenase
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NAD(P)H Dehydrogenase (Quinone)