title: Clinical and EEG video-polygraphic features of epileptic spasms in a child with dihydropteridine reductase deficiency. Efficiency of hydrocortisone.
abstract: West syndrome is an epileptic encephalopathy which includes psychomotor deterioration. In rare cases, it is due to an inherited, progressive metabolic disease. We report a 2 year-old child with dihydropteridine reductase deficiency who developed hypsarrhythmia and infantile spasms which were documented on video-polygraphic EEG. Despite dietary restriction of phenylalanine, and oral administration of amine precursors, the initial course was unfavorable. A beneficial effect from hydrocortisone was then observed, with control of spasms and improvement of psychomotor delay.
authors.affiliation: Service de neuropédiatrie, Hôpital Saint-Vincent-de-Paul, 82, avenue Denfert-Rochereau, 75014 Paris, France. cca.neuroped@svp.ap-hop-paris.fr
authors.forename: Y
authors.initials: Y
authors.lastname: Mikaeloff
authors.forename: P
authors.initials: P
authors.lastname: Plouin
authors.forename: J L
authors.initials: JL
authors.lastname: Dhondt
authors.forename: G
authors.initials: G
authors.lastname: Ponsot
authors.forename: O
authors.initials: O
authors.lastname: Dulac
mesh_terms: D000893:Anti-Inflammatory Agents / Q000008:administration & dosage / Q000627:therapeutic use*; D000927:Anticonvulsants / Q000008:administration & dosage / Q000627:therapeutic use*; D002648:Child; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology; D006801:Humans; D006854:Hydrocortisone / Q000008:administration & dosage / Q000627:therapeutic use*; D007231:Infant, Newborn; D008297:Male; D010661:Phenylketonurias; D012720:Severity of Illness Index; D013036:Spasms, Infantile / Q000175:diagnosis; D016896:Treatment Outcome; D014741:Video Recording
chemical_list: D000893:Anti-Inflammatory Agents; D000927:Anticonvulsants; D006854:Hydrocortisone