title: Non-convulsive status epilepticus of frontal origin in mucopolysaccharidosis type II successfully treated with ethosuximide.
abstract: At 7 years of age, a female with mucopolysaccharidosis type II (MPS II) showed a sudden deterioration in neurological function, a sleep disorder, and progressive behavioural impairment. Electroencephalography was performed 1 year and 8 months after the onset of the neurological regression and revealed continuous ictal activity in the frontal regions. The female was diagnosed as having frontal non-convulsive status epilepticus. After 5 weeks of therapy with ethosuximide, the ictal electroencephalographic activity disappeared. At the same time, her sleep and cognitive and behavioural functions were observed to improve. This is the first case of MPS type II reported in an individual with non-convulsive status epilepticus. Two main forms of MPS II can be recognized: attenuated and severe. Severe MPS II is characterized by neurodegeneration. No study has explored the relationship between epilepsy and neurological deterioration in MPS II. Our observation shows that epilepsy may be a treatable cause of neurological regression in individuals with MPS II.
authors.affiliation: Epilepsy and Clinical Neurophysiology Unit, IRCCS E. Medea, Conegliano (TV), Italy. paolo.bonanni@cn.lnf.it
authors.forename: Paolo
authors.initials: P
authors.lastname: Bonanni
authors.forename: Marco
authors.initials: M
authors.lastname: Gubernale
authors.forename: Federica
authors.initials: F
authors.lastname: Martinez
authors.forename: Giovanna
authors.initials: G
authors.lastname: Randazzo
authors.forename: Luca
authors.initials: L
authors.lastname: Milantoni
authors.forename: Andrea
authors.initials: A
authors.lastname: Martinuzzi
authors.forename: Clementina
authors.initials: C
authors.lastname: Boniver
authors.forename: Marilena
authors.initials: M
authors.lastname: Vecchi
authors.forename: Maurizio
authors.initials: M
authors.lastname: Scarpa
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use*; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D004569:Electroencephalography / Q000187:drug effects; D017034:Epilepsy, Frontal Lobe / Q000175:diagnosis / Q000188:drug therapy*; D005013:Ethosuximide / Q000627:therapeutic use*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007558:Italy; D016532:Mucopolysaccharidosis II / Q000175:diagnosis / Q000188:drug therapy*; D009460:Neurologic Examination; D012815:Signal Processing, Computer-Assisted; D013226:Status Epilepticus / Q000188:drug therapy*
chemical_list: D000927:Anticonvulsants; D005013:Ethosuximide