An 8-year old boy with continuous spikes and waves during slow sleep presenting with positive onconeuronal antibodies

Abstract

Objective: To determine the etiology of epilepsy with continuous spikes and waves during slow sleep (CSWS)/electrical status epilepticus during sleep (ESES) in an 8-year old boy with a history of neuroblastoma and opsoclonus-myoclonus.

Material & methods: A combination of clinical characterization and follow-up, video EEG and laboratory investigations.

Results: We report the case of an 8-year old boy with a history of neuroblastoma and opsoclonus-myoclonus, who presented with intellectual disability, pharmacotherapy-resistant epilepsy and CSWS/ESES. Although the patient's neuroblastoma had been successfully treated 8 years prior to presentation and an extensive workup did not show a tumor reoccurrence, testing for onconeuronal antibodies was positive for anti-Ma2 and anti-CV2/CRMP5 antibodies. High-dose intravenous methylprednisolone and a taper of oral methylprednisolone were given, leading to a significant clinical improvement. During the taper the patient's condition and EEG manifestations deteriorated again necessitating another cycle of steroid therapy, which lead to a stable improvement. During a 6-month follow-up no CSWS/ESES was seen on EEG and anti-Ma2 and anti-CV2/CRMP5 antibodies remained undetectable.

Conclusion: This case suggests that onconeuronal antibodies may be involved in the pathogenesis of CSWS/ESES.

Keywords: Anti-CV2/CRMP5; Anti-Ma2; CSWS; ESES; Neuroblastoma; Onconeuronal antibody; Steroid therapy.