title: High-frequency rhythmic cortical myoclonus in a long-surviving patient with nonketotic hypergylcemia.
abstract: An 11-year-old girl with nonketotic hyperglycinemia who typically presented with a picture of early myoclonic encephalopathy in the neonatal period is presented in this article. Treated early with sodium benzoate and dextromethorphan, she became seizure-free, while myoclonus persisted. During examination, multifocal rhythmic myoclonic jerks in gamma frequency enhanced by motor activity were noted. Coherence analysis of the electroencephalography-electromyography relationship indicated a cortical origin of the myoclonic jerks. Observation of this case suggests that rhythmic cortical myoclonus may represent a late evolution of this rare disorder.
authors.affiliation: Pediatric Neurology Unit, V. Buzzi Hospital, A.O. ICP, Milan, Italy.
authors.forename: Massimo
authors.initials: M
authors.lastname: Mastrangelo
authors.forename: Laura
authors.initials: L
authors.lastname: Canafoglia
authors.forename: Silvana
authors.initials: S
authors.lastname: Franceschetti
authors.forename: Chiara
authors.initials: C
authors.lastname: Oppezzo
authors.forename: Fabio
authors.initials: F
authors.lastname: Mosca
authors.forename: Francesca
authors.initials: F
authors.lastname: Menni
authors.forename: Rossella
authors.initials: R
authors.lastname: Parini
authors.forename: Claudia
authors.initials: C
authors.lastname: Ciano
authors.forename: Vidmer
authors.initials: V
authors.lastname: Scaioli
authors.forename: Ferruccio
authors.initials: F
authors.lastname: Panzica
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D002540:Cerebral Cortex / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D003915:Dextromethorphan / Q000627:therapeutic use; D018450:Disease Progression; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000150:complications* / Q000188:drug therapy; D005260:Female; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000150:complications* / Q000188:drug therapy; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D009069:Movement Disorders / Q000150:complications* / Q000188:drug therapy; D009207:Myoclonus / Q000150:complications* / Q000188:drug therapy; D020160:Sodium Benzoate / Q000627:therapeutic use; D017741:Survivors
chemical_list: D000927:Anticonvulsants; D003915:Dextromethorphan; D020160:Sodium Benzoate