Clinical Case Of Rare Mitochondrial Disease In A Child

Abstract

We describe a clinical case of Alpers-Huttenlocher syndrome in a child with polyneuropathy, myopathy and epileptic seizures, the development of toxic hepatitis with a fatal outcome after the use of valproic acid as an antiepileptic drug. The need for early differential diagnosis of Alpers syndrome and molecular genetic testing in cases of damage to the nervous system with various symptoms in order to select optimal therapy is shown.