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Mitochondrial DNA Deletion in a Child Mitochondrial DNA Deletion in a Child With Megaloblastic Anemia and Recurrent Encephalopathy

Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY

Carolyn M. Sue, MD, PhD

Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY

Sara Shanske, PhD

Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY

Kurenai Tanji, MD

Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY

Eduardo Bonilla, MD

Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY

Joceline Ojaimi, PhD

Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY

Sindu Krishna, PhD

Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY

Romaine Schubert, MD

Department of Neurology, Division of Pediatric Neurology, State University of New York Health Science Center, Brooklyn, NY

Salvatore DiMauro, MD

Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY

A 3-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. (J Child Neurol 2004;19:258-261).

Journal of Child Neurology, Vol. 19, No. 4, 258-261 (2004)
DOI: 10.1177/088307380401900403


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