Mitochondrial DNA deletion in a child with megaloblastic anemia and recurrent encephalopathy

Cigdem I Akman, Carolyn M Sue, Sara Shanske, Kurenai Tanji, Eduardo Bonilla, Joseline Ojaimi, Sindu Krishna, Romaine Schubert, Salvatore DiMauro

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A 3 1/2-year-old boy presented with megaloblastic anemia and recurrent episodes of severe lactic acidosis and coma. At age 4 years, he developed sepsis and died; postmortem examination failed to show any gross abnormality in any tissue. Biochemical analysis of muscle showed decreased activities for all respiratory chain enzymes except complex II. Muscle histochemistry revealed diffuse cytochrome c oxidase deficiency. Southern blot analysis of mitochondrial DNA from muscle, liver, and blood showed a heteroplasmic single mitochindrial DNA deletion of 2.4 kb, which removed the genes for cytochrome c oxidase I and II and the transfer ribonucleic acid genes for serine and aspartic acid. Single large-scale deletions in mitochondrial DNA have been associated with Pearson s syndrome, Kearns-Sayre syndrome, and progressive external ophthalmoplegia. This patient s presentation is unusual and suggests an overlap between Pearson s syndrome and Kearns-Sayre syndrome.
Original languageEnglish
Pages (from-to)258 - 261
Number of pages4
JournalJournal of Child Neurology
Issue number4
Publication statusPublished - 2004

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