[A case of epilepsy, movement disorders associated with a mutation in the PDHA1 gene in a preschool child]. / Klinicheskii sluchai epilepsii, dvigatel'nykh narushenii, assotsiirovannykh s mutatsiei v gene PDHA1, u rebenka doshkol'nogo vozrasta.

Deficiency of the pyruvate dehydrogenase complex E1-alpha subunit is a rare genetic disease with X-linked dominant inheritance. The clinical spectrum of the disease is extremely wide: from lethal forms in children of the first year of life with lactic acidosis to chronic neurological manifestations with structural changes in the central nervous system without increasing the level of lactate in the blood. The authors report a case of this disease in a preschool child and present the results of laboratory and instrumental studies. The importance of early diagnosis of the disease is emphasized.