AOCCN2017

Presentation information

Poster Presentation

[P1-1~141] Poster Presentation 1

Thu. May 11, 2017 9:30 AM - 4:00 PM Poster Room A (1F Navis A.B.C)

[P1-101] POLG related Catastrophic Convulsion: Case Report of a 4-year old Girl who presented with Super Refractory Status Epilepticus

Kam Tim LIU (Department of Paediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong)

Clinical pictures of POLG related disorders are diverse and subtle presentations are often under recognized. We describe the clinical course of a 4-year old girl, who was admitted with a complaint of feeling extreme tiredness during an episode of febrile illness. She later developed multiple and frequent short convulsions requiring treatment in intensive care unit. Review of her past medical history showed that she had fair school performance but otherwise normal developmental milestones and had no personal history of seizures. Combination of clinical features including super refractory nature of convulsions, episodic elevation of liver enzymes, posterior dominance of electrographic changes prompted us to test for mitochondrial and POLG mutations and patient was positive for heterozygous mutations of POLG gene. Her clinical course and some management issues are highlighted and discussed.