A case report: New-onset refractory status epilepticus in a patient with FASTKD2-related mitochondrial disease.

ABSTRACT:

Objectives

New-onset refractory status epilepticus (NORSE) is associated with high morbidity and mortality. Despite extensive work-up, the underlying etiology remains unknown in 50% of affected individuals. Mitochondrial disorders represent rare causes of NORSE. Biallelic variants in FASTKD2 were reported as a cause of infantile encephalomyopathy with refractory epilepsy.

Case description

In the study, we report a previously healthy 14-year-old with a new, homozygous FASTKD2 variant presenting with NORSE. Following a seizure-free period of 7 years, he experienced another super-refractory SE and subsequently developed drug-resistant focal epilepsy, mild myopathy, optic atrophy, and discrete psychomotor slowing. Structural MRI at the time of NORSE showed right te

SUBMITTER: Astner-Rohracher A 

PROVIDER: S-EPMC9875587 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature