ABSTRACT 374

Abstract

Background and aims: Febrile Infection-Related Epilepsy Syndrome (FIRES), is a rare condition in which previously healthy children develop refractory status epilepticus after a febrile illness, leading to refractory epilepsy and severe neuropsychological impairment. Overlapping signs and symptoms with other causes of encephalopathy and seizures make diagnosis and treatment challenging. Aims: We present a case of a 6 year old boy with a typical disease course and review current pathophysiologic research and treatment options. Methods: After a febrile illness, the boy was found comatose with a tongue bite. He was intubated and ventilated, and started on anticonvulsives, antibiotics and antiviral medication. He initially improved and was extubated, but developed more generalised tonic clonic seizures, encephalopathy and in the course of a few days a convulsive state. Seizures were reduced temporarily but never completely inhibited, also not by barbiturate coma nor by a ketogenic diet. Dysregulation of the autonomic nerve system including temperature and blood pressure instability were noted. Results: A full infectious, metabolic (including muscle biopsy) and immunological work up, did not reveal any etiology. EEGs, a PET-CT and serial MRI investigations were performed, compatible with a diagnosis of FIRES. Eventuelly, the boy went home subcomatose with a tracheostoma and ventilated, in the care of his parents and nursing service. Conclusions: This case illustrates the diagnostic and therapeutic difficulties in Febrile Infection-Related Epilepsy Syndrome. Current research shows some insight in the pathophysiology and preferable treatment, although outcome remains limited in many cases.