FOLINIC ACID-RESPONSIVE ENCEPHALOPATHY: RATIONALE OF THERAPEUTIC TRIAL WITH FOLINIC ACID

Objectives: Folinic acid-responsive encephalopathy or cerebral folate deficiency, though relatively rare, is a treatable disease. The goal is to identify the possible candidate for therapeutic trial with folinic acid without going through the time-consuming process of detailed metabolic tests.

Methods: Eight children, age ranges 1–9 years, 6 female and 2 male, all have severe static encephalopathy (profound developmental delay, profound mental retardation or cerebral palsy or both), and six of them have epilepsy which is refractory to AEDs. The pregnancy and delivery of the mothers were uneventful. The cause of the static encephalopathy could not be identified in all of the children except one whose brain MRI revealed multifocal leukoencephalopathy. Folinic acid 15mg once daily were given to each of them to see their response.

Results: Five children, including two without refractory seizure, responded to folinic acid by having better motor performance, better social interaction, and better seizure control. The improvement on the children could be recognized by the caregiver as quickly as having taken folinic acid for only a week.

Conclusion: For those children who have profound developmental delay, profound mental retardation or cerebral palsy, no matter they have refractory seizure or not, folinic acid is worth of trying when no definitive cause could be demonstrated from the history and the detailed clinical studies.