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Mitochondrial DNA Depletion in Children

Department of Pediatrics and Neurology, ctsao{at}chi.osu.edu

Jerry R. Mendell, MD

Department of Neurology

Mark Luquette, MD

Department of Pathology

Brad Dixon, DO

Department of Pediatrics College of Medicine and Public Health The Ohio State University Columbus, Ohio

Grant Morrow, MD

Department of Pediatrics College of Medicine and Public Health The Ohio State University Columbus, Ohio

The first girl of an unrelated couple was noted to have failure to thrive since age 3 months, generalized hypotonia and weakness, hepatomegaly, hypoglycemia, and lactic acidosis at 4 months. She was found to have severe mitochondrial DNA (mtDNA) depletion and respiratory chain complex IV deficiency in both skeletal muscle and liver but without other common mtDNA mutations. Her younger brother developed vomiting at age 3 weeks and was diagnosed as having pyloric stenosis. His skeletal muscle and liver also showed severe mtDNA depletion. He developed generalized weakness and hypotonia, hepatomegaly, and lactic acidosis at age 3 months. Both siblings died of hepatic failure and hemorrhagic complication before 6 months of age. The brother also had chemical pancreatitis, which had not been reported before in mtDNA depletion in children. Severe mtDNA depletion may present with nonspecific symptoms such as vomiting, failure to thrive, and developmental delay; multiorgan involvement such as hepatomegaly, pancreatitis, and myopathy occurs later. Mitochondrial DNA depletion should be considered in the differential diagnosis in children with developmental delay or failure to thrive of unknown etiology. (J Child NeuroL 2000;15:822-824).

Journal of Child Neurology, Vol. 15, No. 12, 822-824 (2000)
DOI: 10.1177/088307380001501213


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