Clinical and EEG video-polygraphic features of epileptic spasms in a child with dihydropteridine reductase deficiency. Efficiency of hydrocortisone.
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.
Mikaeloff
Y
Y
Service de neuropédiatrie, Hôpital Saint-Vincent-de-Paul, 82, avenue Denfert-Rochereau, 75014 Paris, France. cca.neuroped@svp.ap-hop-paris.fr
Plouin
P
P
Dhondt
J L
JL
Ponsot
G
G
Dulac
O
O
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
D000893:Anti-Inflammatory Agents; D000927:Anticonvulsants; D006854:Hydrocortisone