title: Infantile spasms and Menkes disease.
abstract: Epileptic seizures are a common feature in Menkes disease, an X-linked genetic disorder of copper metabolism. Details of type of seizures are rarely reported. We report the evolution of infantile spasms in two patients with Menkes disease and the relation with subcutaneous administration of copper-histidine.
authors.affiliation: Service de Neurologie Pédiatrique et des Maladies Métaboliques, Hôpital Robert-Debré, 48, boulevard Sérurier, 75019 Paris, France. isfaello@wanadoo.fr
authors.forename: I
authors.initials: I
authors.lastname: Sfaello
authors.forename: P
authors.initials: P
authors.lastname: Castelnau
authors.forename: N
authors.initials: N
authors.lastname: Blanc
authors.forename: H
authors.initials: H
authors.lastname: Ogier
authors.forename: P
authors.initials: P
authors.lastname: Evrard
authors.forename: A
authors.initials: A
authors.lastname: Arzimanoglou
mesh_terms: D001921:Brain / Q000098:blood supply / Q000473:pathology; D002570:Ceruloplasmin / Q000134:cerebrospinal fluid; D003300:Copper / Q000097:blood / Q000134:cerebrospinal fluid; D004569:Electroencephalography; D006639:Histidine / Q000031:analogs & derivatives / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D019344:Lactic Acid / Q000097:blood / Q000134:cerebrospinal fluid; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis* / Q000188:drug therapy; D009942:Organometallic Compounds / Q000627:therapeutic use; D013036:Spasms, Infantile / Q000175:diagnosis*; D018608:Ultrasonography, Doppler
chemical_list: D009942:Organometallic Compounds; D019344:Lactic Acid; D006639:Histidine; D003300:Copper; C098468:copper histidine; D002570:Ceruloplasmin