[PS20-3D-1] A case of epilepsia partialis continua associated with Alpers-Huttenlocher syndrome affecting multiple body sites
Epilepsia partialis continua (EPC) is a rare epilepsy commonly affecting a fixed body site. EPC affecting multiple body sites is rarely reported previously. Alpers Huttenlocher syndrome (AHS) is caused by mutations in the POLG gene with autosomal recessive inheritance. AHS is characterized by refractory epilepsy, developmental retardation and progressive liver dysfunction, especially liver failure after valproate (VPA) administration. Here, we describe a case of EPC associated with AHS affecting multiple body parts. A 10-month-old girl presented with intermittent convulsion. Video-EEG showed frequent local clonus or myoclonic seizures in multiple body sites. The seizure was not controlled with antiepileptics. After using VPA, the patient presented with jaundice, liver function dysfunction, hyperlactatemia, and aggravated developmental retardation. The patient finally died of circulatory failure 5 months later from the disease onset. Her baby brother had similar symptoms at the age of 11 months. He had heterozygous mutations c.3024_3025insTTG (p.1008_1009insLeu) and c.2588G>T (p.Ser863Ile) in the POLG gene, and each of his parents carried one of the mutations. As her baby brother was early diagnosed AHS, we did not use VPA and prevented VPA-induced liver damage. Here we highlight the clinical clue of EPC indicates AHS and the importance of avoiding VPA selection for better prognosis of AHS patients