Abstract
We present here a patient with muscle fatigue and poor growth since the age of 6 y. The diagnosis of a mitochondrial disease was based on the presence of ragged red fibers in the muscle biopsy and on a combined defect of mitochondrial DNA–encoded respiratory enzymes. Epilepsia partialis continua with stroke-like episodes appeared 2 mo before death at the age of 18 and prompted a search for mitochondrial DNA mutations associated with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes. Minisequencing of the patient's DNA samples revealed a heteroplasmic T3271C mutation with a 78–94% mutation load in her fibroblasts or autopsy-derived tissue samples. This is the ninth reported non-Japanese patient with T3271C mutation. Our patient shows that despite very high proportion of mutant mtDNA, the T3271C mutation can give rise to mild symptoms in childhood and to a rapid terminal phase that simulates encephalitis.
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Abbreviations
- MELAS:
-
mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
- MERRF:
-
myoclonic epilepsy with ragged red fibers
- MtDNA:
-
mitochondrial DNA
- RRF:
-
ragged red fiber
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This study was supported by grants from the Alli Paasikivi Foundation and National Graduate School of Clinical Investigation (to L.S.) and the Academy of Finland and Sigrid Juselius Foundation (to A.S.).
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Stenqvist, L., Paetau, A., Valanne, L. et al. A Juvenile Case of MELAS with T3271C Mitochondrial DNA Mutation. Pediatr Res 58, 258–262 (2005). https://doi.org/10.1203/01.PDR.0000169966.82325.1A
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DOI: https://doi.org/10.1203/01.PDR.0000169966.82325.1A
