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

• Published in: European journal of paediatric neurology Vol. 19; no. 2; pp. 257 - 261
• Main Authors: Hu, Lin-Yan, Shi, Xiu-Yu, Feng, Chen, Wang, Jian-Wen, Yang, Guan, Lammers, Stephen H.T, Yang, Xiao Fan, Ebrahimi-Fakhari, Darius, Zou, Li-Ping
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.03.2015
• Subjects: Anti-CV2/CRMP5; Anti-Inflammatory Agents - therapeutic use; Anti-Ma2; Antibodies, Neoplasm - analysis; Antigens, Neoplasm - genetics; Brain Neoplasms - complications; Child; CSWS; Drug Resistant Epilepsy - complications; Electroencephalography; Epilepsy - etiology; ESES; Humans; Intellectual Disability - complications; Intellectual Disability - psychology; Male; Methylprednisolone - therapeutic use; Nerve Tissue Proteins - genetics; Neuroblastoma; Neuroblastoma - complications; Neurology; Onconeuronal antibody; Opsoclonus-Myoclonus Syndrome - complications; Opsoclonus-Myoclonus Syndrome - physiopathology; Pediatrics; Sleep - physiology; Status Epilepticus - etiology; Status Epilepticus - physiopathology; Steroid therapy; Strabismus - complications; CSWS; Anti-Ma2; Anti-CV2/CRMP5; Neuroblastoma; ESES; Steroid therapy; Onconeuronal antibody
• ISSN: 1090-3798; 1532-2130
• DOI: 10.1016/j.ejpn.2014.12.012

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.