XXXX manifestations in childhood.

@entity1 @entity198 @entity22992 @entity75 @entity16 @entity1092 @entity409 @entity29409 @entity194 @entity302 @entity62 @entity2746 @entity2055 @entity2383
OBJECTIVE: Mitochondrial DNA polymerase y ( @entity22992 ) mutations in @entity1 often manifest as @entity29409 , whereas in adults, a common manifestation is mitochondrial @entity2746 (MIRAS) with severe @entity302 . Because some @entity1 with MIRAS have presented with @entity2055 or @entity302 already in childhood, we searched for @entity22992 mutations in neurologic manifestations in childhood. METHODS: We investigated @entity22992 in 136 @entity1 , all clinically suspected to have @entity2383 , with one or more of the following: @entity2055 , @entity16 , severe @entity302 without @entity302 , @entity302 , encephalohepatopathy, or neuropathologically verified @entity29409 . RESULTS: Seven @entity1 had @entity22992 mutations, and all of them had severe @entity75 with @entity302 . Four @entity1 had died after exposure to @entity1092 . Brain MRI showed parieto-occipital or thalamic hyperintense lesions, @entity62 , and @entity194 . Muscle histology and mitochondrial biochemistry results were normal in all. CONCLUSIONS: @entity22992 analysis should belong to the first-line DNA diagnostic tests for @entity1 with an @entity198 -like presentation evolving into @entity302 with @entity409 ( @entity29409 ), even if brain MRI and morphology, respiratory chain activities, and the amount of mitochondrial DNA in the skeletal muscle are normal. @entity22992 analysis should precede valproate therapy in pediatric @entity1 with a typical phenotype. However, @entity22992 is not a common cause of @entity302 or @entity2055 in childhood.
