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A 2-week-old boy had profound generalized weakness, hypotonia, hyporeflexia, macroglossia, and severe lactic acidosis. The infant improved spontaneously: he held his head at 4 1/2 months, rolled over at 7 months, and walked by 16 months. At 33 months of age, he had mild proximal weakness. Macroglossia disappeared by age 4 months. Blood lactic acid declined steadily and was normal by 14 months of age. Histochemical and ultrastructural studies of muscle biopsy specimens obtained at 1 and 7 months of age showed excessive mitochondria, lipid, and glycogen; a third biopsy at age 36 months showed only atrophy of scattered fibers. Cytochrome c oxidase stain was positive in fewer than 5% of fibers in the first biopsy, in approximately 60% of fibers in the second biopsy, and in all fibers in the third biopsy. Biochemical analysis showed an isolated defect of cytochrome c oxidase activity, which was only 8% of the lowest control level in the first biopsy; the activity increased to 47% in the second biopsy and was higher than normal in the third. In contrast to that in the fatal infantile form of cytochrome c oxidase deficiency, the enzyme defect in this condition is reversible. The biochemical basis for this difference remains to be explained.
S DiMauro, and
J F Nicholson, and
A P Hays, and
A B Eastwood, and
A Papadimitriou, and
R Koenigsberger, and
D C DeVivo
September 1996,
No to hattatsu = Brain and development,
S DiMauro, and
J F Nicholson, and
A P Hays, and
A B Eastwood, and
A Papadimitriou, and
R Koenigsberger, and
D C DeVivo
November 1989,
No to hattatsu = Brain and development,
S DiMauro, and
J F Nicholson, and
A P Hays, and
A B Eastwood, and
A Papadimitriou, and
R Koenigsberger, and
D C DeVivo
January 1983,
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S DiMauro, and
J F Nicholson, and
A P Hays, and
A B Eastwood, and
A Papadimitriou, and
R Koenigsberger, and
D C DeVivo
January 1996,
Brain & development,
S DiMauro, and
J F Nicholson, and
A P Hays, and
A B Eastwood, and
A Papadimitriou, and
R Koenigsberger, and
D C DeVivo
August 1992,
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S DiMauro, and
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A Papadimitriou, and
R Koenigsberger, and
D C DeVivo
August 1980,
Neurology,
S DiMauro, and
J F Nicholson, and
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A B Eastwood, and
A Papadimitriou, and
R Koenigsberger, and
D C DeVivo
November 2009,
Brain : a journal of neurology,
S DiMauro, and
J F Nicholson, and
A P Hays, and
A B Eastwood, and
A Papadimitriou, and
R Koenigsberger, and
D C DeVivo
November 1986,
Neuropediatrics,
S DiMauro, and
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A Papadimitriou, and
R Koenigsberger, and
D C DeVivo
November 1986,
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S DiMauro, and
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A Papadimitriou, and
R Koenigsberger, and
D C DeVivo
January 1987,
Neurology,
