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 ragg ed red fibers in the muscle biopsy and on a combined defect of mitochondrial DNA -encoded respiratory enzymes. Epilepsia partialis continua with stroke-like ep isodes appeared 2 mo before death at the age of 18 and prompted a search for mit ochondrial DNA mutations associated with mitochondrial encephalopathy, lactic ac idosis, and stroke-like episodes. Minisequencing of the patient’s DNA samples revealed a heteroplasmic T3271C mutation with a 78-94%mutation load in her fib roblasts or autopsy-derived tissue samples. This is the ninth reported non-Jap anese patient with T3271C mutation. Our patient shows that despite very high pro portion of mutant mtDNA, the T3271C mutation can give rise to mild symptoms in childhood and to a rapid terminal phase that sim ulates encephalitis.
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