Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency.
The authors report two twin sisters, age 15 years, with recessive GTP cyclohydrolase deficiency, who presented with neonatal onset of rigidity, tremor, and dystonia but with no other symptoms suggestive of a diffuse CNS involvement. The plasma phenylalanine levels were normal. Treatment with L-dopa/carbidopa, started at age 1 year, was associated with sustained recovery from all neurologic signs. The patients were homozygous for a new recessive mutation in the GHI gene.
Nardocci
N
N
Department of Child Neurology, Istituto Nazionale Neurologico "Carlo Besta," Milan, Italy. nnardocci@istituto-besta.it
Zorzi
G
G
Blau
N
N
Fernandez Alvarez
E
E
Sesta
M
M
Angelini
L
L
Pannacci
M
M
Invernizzi
F
F
Garavaglia
B
B
D000293:Adolescent; D000978:Antiparkinson Agents / Q000627:therapeutic use*; D001480:Basal Ganglia Diseases / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy* / Q000201:enzymology; D002230:Carbidopa / Q000627:therapeutic use; D015259:Dopamine Agents / Q000627:therapeutic use; D004421:Dystonia / Q000209:etiology; D005260:Female; D005500:Follow-Up Studies; D006136:GTP Cyclohydrolase / Q000172:deficiency* / Q000235:genetics*; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D007980:Levodopa / Q000627:therapeutic use; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000188:drug therapy*; D009127:Muscle Rigidity / Q000209:etiology; D009154:Mutation; D012021:Reflex, Abnormal / Q000235:genetics; D012074:Remission Induction; D016896:Treatment Outcome; D014202:Tremor / Q000209:etiology
D000978:Antiparkinson Agents; D015259:Dopamine Agents; D007980:Levodopa; D006136:GTP Cyclohydrolase; D002230:Carbidopa