Objective To report new manifestations of cerebral folate deficiency, a rare metabolic autoimmune syndrome, in an adult.
Design Case report.
Setting University teaching hospital.
Patient A 58-year-old woman with progressive memory loss and myoclonus presented for medical attention. Results of cerebral spinal fluid analysis showed low levels of tetrahydrobiopterin and 5-methyltetrahydrofolate. The patient's serum folate level was normal. Serum contained folate receptor 1 blocking and binding antibodies.
Results The patient was treated successfully with folinic acid supplementation, and after 6 months of treatment, clinical symptoms had resolved.
Conclusions To our knowledge, we report the first case of adult-onset cerebral folate deficiency. Furthermore, this condition could represent a treatable form of early-onset dementia.