Cerebral folate deficiency (CFD) is traditionally thought of as a childhood-onset condition, yet emerging evidence highlights that it can present later in life and may be overlooked in adults with worsening seizures. A case presented at the American Epilepsy Society describes a 27-year-old woman with a history of epilepsy who experienced a significant escalation in seizure frequency and cognitive decline in early adulthood. Despite multiple anti-epileptic medications, her seizures progressed to daily events, accompanied by language, motor, and cognitive regression. Advanced evaluation ultimately revealed low cerebrospinal fluid folate levels and the presence of folate receptor autoantibodies, confirming CFD.
This case underscores an important clinical message: CFD can emerge or be recognized later than expected, particularly in individuals with refractory seizures or unexplained neurological decline. Because standard blood folate levels may appear normal, diagnosis often requires specialized testing, including cerebrospinal fluid 5-MTHF levels or folate receptor antibody assays.
For patients and families navigating difficult-to-control seizures, this represents a potentially treatable pathway. Thoughtful discussion with a neurology team about appropriate testing—and, in select cases, a monitored trial of folinic acid—may be warranted. Early recognition can meaningfully impact outcomes, even when symptoms appear later than typically described.
Bringing much light,
Lynn
