Abstracts

Rationale: Continuous spike-waves during slow sleep (CSWS) is a childhood epileptic encephalopathy characterized by the presence of status epilepticus during sleep (ESES) in the EEG, refractory seizures and neurocognitive regression. Recently reports have shown rare cases of this condition in adults. Cerebral folate deficiency (CFD) can be defined as any neurological syndrome associated with low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5MTHF), in the presence of normal folate metabolism outside the nervous system. The aim of this research is to describe a case of adult onset CSWS in a patient with autoimmune CFD and review the literature to summarize the clinical presentation of both entities in adults.Methods: Case presentation: We report a 27 year-old woman with history of childhood onset epilepsy who developed cognitive decline and worsening of seizures at age 22 years. Seizures increased to weekly then daily, despite of increased dose and number of AEDs. In the last 2 years, she had neurological regression in language, motor skills and cognition and excessive daytime sleepiness. VEEG showed ESES pattern in more than 85% of slow waves sleep. EEG and seizures improved after treatment with high dose of oral diazepam - 20mg at night. She became more alert and her speech improved. Four months later, her seizures increased again. Extensive genetic and metabolic work up showed low levels of 5MTHF in the CSF and the presence of anti-folate receptor antibodies. Treatment with Folinic acid was initiated. Follow up revealed a significant reduction in the seizure intensity as well as seizure frequency associate with neurological function improvement.Results: The association between ESES and CFD has been previouly reported only in an adolescent. Our case indicates that ESES also can be a cause of neurocognitive, behavioral and motor regression in adults. As documented in our case, specific treatment of ESES with benzodiazepines, temporarily improved the seizures and EEG findings but no singificnat clinical improvement was obtained until the addition of folinic acid to the treatment.Conclusions: It is possible that ESES could represent a more severe form of untreated CFD because regression without ESES has been reported in patients with CFD. CDF should be considered in the differential diagnosis of adult onset ESES because CFD requires treatment with folinic acid. Identification of etiology is important as etiology focused treatment may lead to the improvement of the seizures and neurological function.