Abstracts

Rationale: CSWS belongs to epileptic encephalopathies responsible for a progressive and severe decrease in cognitive function and marked behavioural problems. Most of time cause remains unknown and this syndrome is resistant to antiepileptics. We describe the case of a girl with progressive behavioural problems, seizures and CSWS.Methods: S., a girl born in 1996 has no abnormal family story and no specific problems until September 2003. Then, she developed learning difficulties and behaviour disturbances. Later, she was regularly described as “absent” and developed aggressivity, impulsivity, echolalia, stereotyped language. First EEG, recorded in July 2004, showed spike-and-wave (SW) discharges during wakefulness and CSWS. Broad spectrum antiepileptic drugs, corticosteroids had no impact on clinical outcome. After a detailed presurgical evaluation (no metabolic or degenerative diseases, normal MRI, PETscan with bitemporal hypermetabolism and bifrontal hypometabolism), multiple subpial transections were done on left temporo-parietal areas considered as the driver hemisphere in this diffuse encaphalopathy. Electrocorticography showed continuous slow high amplitude SW on retrorolandic area and only few spikes on prerolandic area (figure 1). Biopsies were taken from temporal and parietal lobes. Surgery had no impact on no impact on electrocorticography and evolution. After biopsy results, she received galantamine. In May 2007, language is reduced to a few words, she has severe apraxias, unable to dress or to eat alone. She is still able to walk, but witout specific aim. Galantamine (12mg a day) seems to reduce the speed of deterioration but focal seizures persisted and MRI shows a progressive and diffuse brain atrophy. EEG shows diffuse SW more numerous and visible on unoperated hemisphere and delta background rhythm. Results: Brain biopsy showed massive destruction of neurons (figure 2) and Collins body inclusions. The diagnosis of neuroserpin disease was made. Usually, neuroserpin inclusions are known to produce a dementia familial encephalopathy. Genetic analysis shows sporadic punctual mutation on locus 3q26. This case is the youngest known case of neuroserpinopathy and the only proven sporadic case described.Conclusions: Neuroserpin disease should be evoked in front of progressive mental and behavioural deterioration with seizures or CSWS, even in children without familial history of dementia.